id category name Orphanet:166024 biolink:Disease Multiple epiphyseal dysplasia, Al-Gazali type UniProtKB:Q2M1P5 biolink:Protein Orphanet:93 biolink:Disease Aspartylglucosaminuria UniProtKB:P20933 biolink:Protein Orphanet:166035 biolink:Disease Brachydactyly-short stature-retinitis pigmentosa syndrome UniProtKB:Q6UX04 biolink:Protein Orphanet:585 biolink:Disease Multiple sulfatase deficiency UniProtKB:Q8NBK3 biolink:Protein Orphanet:118 biolink:Disease Beta-mannosidosis UniProtKB:O00462 biolink:Protein Orphanet:166063 biolink:Disease Pontocerebellar hypoplasia type 4 UniProtKB:Q7Z6J9 biolink:Protein Orphanet:166078 biolink:Disease Von Willebrand disease type 1 UniProtKB:P04275 biolink:Protein Orphanet:206 biolink:Disease NON RARE IN EUROPE: Crohn disease UniProtKB:P05231 biolink:Protein UniProtKB:Q5VWK5 biolink:Protein UniProtKB:Q9HC29 biolink:Protein UniProtKB:Q15080 biolink:Protein UniProtKB:Q676U5 biolink:Protein UniProtKB:Q13568 biolink:Protein UniProtKB:A1A4Y4 biolink:Protein UniProtKB:P17706 biolink:Protein Orphanet:166073 biolink:Disease Pontocerebellar hypoplasia type 6 UniProtKB:Q5T160 biolink:Protein Orphanet:166084 biolink:Disease Von Willebrand disease type 2A UniProtKB:P04275 biolink:Protein Orphanet:333 biolink:Disease Farber disease UniProtKB:Q13510 biolink:Protein Orphanet:349 biolink:Disease Fucosidosis UniProtKB:P04066 biolink:Protein Orphanet:166090 biolink:Disease Von Willebrand disease type 2M UniProtKB:P04275 biolink:Protein Orphanet:166087 biolink:Disease Von Willebrand disease type 2B UniProtKB:P04275 biolink:Protein Orphanet:366 biolink:Disease Glycogen storage disease due to glycogen debranching enzyme deficiency UniProtKB:P35573 biolink:Protein Orphanet:166093 biolink:Disease Von Willebrand disease type 2N UniProtKB:P04275 biolink:Protein Orphanet:368 biolink:Disease Glycogen storage disease due to muscle glycogen phosphorylase deficiency UniProtKB:P11217 biolink:Protein Orphanet:166096 biolink:Disease Von Willebrand disease type 3 UniProtKB:P04275 biolink:Protein Orphanet:166100 biolink:Disease Autosomal dominant otospondylomegaepiphyseal dysplasia UniProtKB:P02458 biolink:Protein UniProtKB:P13942 biolink:Protein Orphanet:371 biolink:Disease Glycogen storage disease due to muscle phosphofructokinase deficiency UniProtKB:P08237 biolink:Protein Orphanet:166105 biolink:Disease FASTKD2-related infantile mitochondrial encephalomyopathy UniProtKB:Q9NYY8 biolink:Protein Orphanet:369 biolink:Disease Glycogen storage disease due to liver glycogen phosphorylase deficiency UniProtKB:P06737 biolink:Protein Orphanet:447 biolink:Disease Paroxysmal nocturnal hemoglobinuria UniProtKB:P37287 biolink:Protein Orphanet:166108 biolink:Disease Intellectual disability, Birk-Barel type UniProtKB:Q9NPC2 biolink:Protein Orphanet:166119 biolink:Disease Isolated osteopoikilosis UniProtKB:Q9Y2U8 biolink:Protein Orphanet:166260 biolink:Disease Dentinogenesis imperfecta type 2 UniProtKB:Q9NZW4 biolink:Protein Orphanet:166265 biolink:Disease Dentinogenesis imperfecta type 3 UniProtKB:Q9NZW4 biolink:Protein Orphanet:166272 biolink:Disease Odontochondrodysplasia UniProtKB:Q15643 biolink:Protein Orphanet:576 biolink:Disease Mucolipidosis type II UniProtKB:Q3T906 biolink:Protein Orphanet:812 biolink:Disease Sialidosis type 1 UniProtKB:Q99519 biolink:Protein Orphanet:166282 biolink:Disease Familial sick sinus syndrome UniProtKB:Q14524 biolink:Protein UniProtKB:Q9Y3Q4 biolink:Protein UniProtKB:P13533 biolink:Protein Orphanet:578 biolink:Disease Mucolipidosis type IV UniProtKB:Q9GZU1 biolink:Protein Orphanet:166286 biolink:Disease Porokeratotic eccrine ostial and dermal duct nevus UniProtKB:P29033 biolink:Protein Orphanet:771 biolink:Disease NON RARE IN EUROPE: Ulcerative colitis UniProtKB:Q5VWK5 biolink:Protein UniProtKB:Q9HC29 biolink:Protein UniProtKB:Q13568 biolink:Protein UniProtKB:P17706 biolink:Protein UniProtKB:P08183 biolink:Protein Orphanet:461 biolink:Disease Recessive X-linked ichthyosis UniProtKB:P20930 biolink:Protein UniProtKB:P08842 biolink:Protein Orphanet:856 biolink:Disease NON RARE IN EUROPE: Tourette syndrome UniProtKB:Q96PX8 biolink:Protein UniProtKB:Q96T52 biolink:Protein UniProtKB:P19113 biolink:Protein Orphanet:584 biolink:Disease Mucopolysaccharidosis type 7 UniProtKB:P08236 biolink:Protein Orphanet:825 biolink:Disease NON RARE IN EUROPE: Ankylosing spondylitis UniProtKB:P01889 biolink:Protein Orphanet:166412 biolink:Disease Hot water reflex epilepsy UniProtKB:P43005 biolink:Protein Orphanet:95 biolink:Disease Friedreich ataxia UniProtKB:Q16595 biolink:Protein Orphanet:586 biolink:Disease Cystic fibrosis UniProtKB:P01009 biolink:Protein UniProtKB:Q7LBE3 biolink:Protein UniProtKB:Q9UN76 biolink:Protein UniProtKB:P48764 biolink:Protein UniProtKB:P40198 biolink:Protein UniProtKB:P40199 biolink:Protein UniProtKB:P25101 biolink:Protein UniProtKB:P21266 biolink:Protein UniProtKB:P09601 biolink:Protein UniProtKB:P48506 biolink:Protein UniProtKB:Q30201 biolink:Protein UniProtKB:P13569 biolink:Protein UniProtKB:P01137 biolink:Protein UniProtKB:Q9UJW0 biolink:Protein UniProtKB:Q14CN2 biolink:Protein UniProtKB:Q16623 biolink:Protein UniProtKB:O15554 biolink:Protein UniProtKB:P14174 biolink:Protein UniProtKB:P49279 biolink:Protein Orphanet:550 biolink:Disease MELAS UniProtKB:P00395 biolink:Protein UniProtKB:P00403 biolink:Protein UniProtKB:P00414 biolink:Protein UniProtKB:P03886 biolink:Protein UniProtKB:P03905 biolink:Protein UniProtKB:P03915 biolink:Protein UniProtKB:P03923 biolink:Protein Orphanet:269 biolink:Disease Facioscapulohumeral dystrophy UniProtKB:Q9UBC3 biolink:Protein UniProtKB:Q9UBX2 biolink:Protein UniProtKB:Q14331 biolink:Protein UniProtKB:A6NHR9 biolink:Protein UniProtKB:A6NHR9 biolink:Protein Orphanet:480 biolink:Disease Kearns-Sayre syndrome UniProtKB:P03928 biolink:Protein UniProtKB:Q7LG56 biolink:Protein Orphanet:551 biolink:Disease MERRF UniProtKB:P03915 biolink:Protein UniProtKB:A0A0C5B5G6 biolink:Protein Orphanet:597 biolink:Disease Central core disease UniProtKB:P21817 biolink:Protein Orphanet:163746 biolink:Disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease UniProtKB:P56693 biolink:Protein Orphanet:684 biolink:Disease Paramyotonia congenita of Von Eulenburg UniProtKB:P35499 biolink:Protein Orphanet:163931 biolink:Disease Acrodermatitis continua of Hallopeau UniProtKB:Q9UBH0 biolink:Protein UniProtKB:Q96PC3 biolink:Protein Orphanet:163927 biolink:Disease Pustulosis palmaris et plantaris UniProtKB:Q9UBH0 biolink:Protein UniProtKB:Q96PC3 biolink:Protein Orphanet:163937 biolink:Disease X-linked intellectual disability, Najm type UniProtKB:O14936 biolink:Protein Orphanet:614 biolink:Disease Thomsen and Becker disease UniProtKB:P35523 biolink:Protein Orphanet:163966 biolink:Disease X-linked dominant chondrodysplasia, Chassaing-Lacombe type UniProtKB:Q9UBN7 biolink:Protein Orphanet:163976 biolink:Disease X-linked intellectual disability, Van Esch type UniProtKB:P09884 biolink:Protein Orphanet:163956 biolink:Disease X-linked intellectual disability, Nascimento type UniProtKB:P49459 biolink:Protein Orphanet:324 biolink:Disease Fabry disease UniProtKB:P06280 biolink:Protein Orphanet:163985 biolink:Disease Hyperekplexia-epilepsy syndrome UniProtKB:O43307 biolink:Protein Orphanet:778 biolink:Disease Rett syndrome UniProtKB:P51608 biolink:Protein Orphanet:307 biolink:Disease Juvenile myoclonic epilepsy UniProtKB:Q9UPZ9 biolink:Protein UniProtKB:O00305 biolink:Protein UniProtKB:Q5JVL4 biolink:Protein UniProtKB:P14867 biolink:Protein UniProtKB:O14764 biolink:Protein UniProtKB:O43525 biolink:Protein UniProtKB:O75564 biolink:Protein UniProtKB:P51788 biolink:Protein Orphanet:1941 biolink:Disease Juvenile absence epilepsy UniProtKB:Q5JVL4 biolink:Protein Orphanet:892 biolink:Disease Von Hippel-Lindau disease UniProtKB:P24385 biolink:Protein UniProtKB:P40337 biolink:Protein Orphanet:731 biolink:Disease Autosomal recessive polycystic kidney disease UniProtKB:Q8IYY4 biolink:Protein UniProtKB:P08F94 biolink:Protein Orphanet:164736 biolink:Disease Familial advanced sleep-phase syndrome UniProtKB:P56645 biolink:Protein UniProtKB:P48730 biolink:Protein UniProtKB:O15055 biolink:Protein Orphanet:138 biolink:Disease CHARGE syndrome UniProtKB:O15041 biolink:Protein UniProtKB:Q9P2D1 biolink:Protein Orphanet:165805 biolink:Disease Familial mesial temporal lobe epilepsy with febrile seizures UniProtKB:Q8N4T0 biolink:Protein Orphanet:803 biolink:Disease Amyotrophic lateral sclerosis UniProtKB:P41002 biolink:Protein UniProtKB:Q92804 biolink:Protein UniProtKB:P54764 biolink:Protein UniProtKB:P50995 biolink:Protein UniProtKB:O43822 biolink:Protein UniProtKB:Q53GS7 biolink:Protein UniProtKB:Q96PY6 biolink:Protein UniProtKB:Q68CQ7 biolink:Protein UniProtKB:Q8WYQ3 biolink:Protein UniProtKB:P14920 biolink:Protein UniProtKB:Q99700 biolink:Protein UniProtKB:Q9UQN3 biolink:Protein UniProtKB:P00441 biolink:Protein UniProtKB:Q9NZC2 biolink:Protein UniProtKB:O95292 biolink:Protein UniProtKB:P55072 biolink:Protein UniProtKB:P12036 biolink:Protein UniProtKB:Q96CV9 biolink:Protein UniProtKB:Q14203 biolink:Protein UniProtKB:Q13148 biolink:Protein UniProtKB:Q92562 biolink:Protein UniProtKB:P35637 biolink:Protein UniProtKB:P03950 biolink:Protein UniProtKB:P43243 biolink:Protein UniProtKB:P41219 biolink:Protein UniProtKB:P27169 biolink:Protein UniProtKB:Q15165 biolink:Protein UniProtKB:Q15166 biolink:Protein UniProtKB:Q13501 biolink:Protein UniProtKB:Q9UHD9 biolink:Protein UniProtKB:Q96LT7 biolink:Protein UniProtKB:P07737 biolink:Protein UniProtKB:Q9UHD2 biolink:Protein UniProtKB:P09651 biolink:Protein UniProtKB:Q9UBK2 biolink:Protein UniProtKB:Q15303 biolink:Protein UniProtKB:Q9UPW8 biolink:Protein Orphanet:802 biolink:Disease NON RARE IN EUROPE: Multiple sclerosis UniProtKB:P19438 biolink:Protein UniProtKB:P01911 biolink:Protein UniProtKB:P01920 biolink:Protein UniProtKB:Q15116 biolink:Protein UniProtKB:Q3KP44 biolink:Protein UniProtKB:P25063 biolink:Protein Orphanet:100 biolink:Disease Ataxia-telangiectasia UniProtKB:Q13315 biolink:Protein Orphanet:399 biolink:Disease Huntington disease UniProtKB:P42858 biolink:Protein UniProtKB:P11169 biolink:Protein Orphanet:501 biolink:Disease Lafora disease UniProtKB:O95278 biolink:Protein UniProtKB:Q6VVB1 biolink:Protein Orphanet:166011 biolink:Disease Multiple epiphyseal dysplasia, Beighton type UniProtKB:P02458 biolink:Protein Orphanet:567 biolink:Disease 22q11.2 deletion syndrome UniProtKB:O43435 biolink:Protein UniProtKB:O43435 biolink:Protein UniProtKB:O00192 biolink:Protein UniProtKB:P13224 biolink:Protein UniProtKB:Q92890 biolink:Protein UniProtKB:P54198 biolink:Protein UniProtKB:P21964 biolink:Protein UniProtKB:Q15652 biolink:Protein UniProtKB:Q92766 biolink:Protein UniProtKB:P53992 biolink:Protein Orphanet:232 biolink:Disease Sickle cell anemia UniProtKB:P68871 biolink:Protein Orphanet:536 biolink:Disease Systemic lupus erythematosus UniProtKB:Q7Z7A4 biolink:Protein UniProtKB:P01857 biolink:Protein UniProtKB:P16410 biolink:Protein UniProtKB:Q9NSU2 biolink:Protein UniProtKB:P01911 biolink:Protein UniProtKB:P22301 biolink:Protein UniProtKB:P51608 biolink:Protein UniProtKB:O75015 biolink:Protein UniProtKB:P0C0L4 biolink:Protein UniProtKB:P0C0L5 biolink:Protein UniProtKB:P20023 biolink:Protein UniProtKB:P51451 biolink:Protein UniProtKB:Q13568 biolink:Protein UniProtKB:Q15116 biolink:Protein UniProtKB:Q9Y2R2 biolink:Protein UniProtKB:Q14765 biolink:Protein UniProtKB:P31994 biolink:Protein UniProtKB:P24855 biolink:Protein UniProtKB:Q8NDB2 biolink:Protein UniProtKB:P11215 biolink:Protein UniProtKB:Q8IZA0 biolink:Protein UniProtKB:Q86VZ6 biolink:Protein UniProtKB:Q15025 biolink:Protein UniProtKB:P21580 biolink:Protein UniProtKB:P68036 biolink:Protein UniProtKB:P23510 biolink:Protein UniProtKB:P10451 biolink:Protein UniProtKB:P51617 biolink:Protein UniProtKB:P14921 biolink:Protein Orphanet:166002 biolink:Disease Multiple epiphyseal dysplasia due to collagen 9 anomaly UniProtKB:P20849 biolink:Protein UniProtKB:Q14055 biolink:Protein UniProtKB:Q14050 biolink:Protein Orphanet:534 biolink:Disease Oculocerebrorenal syndrome of Lowe UniProtKB:Q01968 biolink:Protein Orphanet:165991 biolink:Disease Exercise-induced hyperinsulinism UniProtKB:P53985 biolink:Protein Orphanet:652 biolink:Disease Multiple endocrine neoplasia type 1 UniProtKB:P46527 biolink:Protein UniProtKB:P38936 biolink:Protein UniProtKB:P42772 biolink:Protein UniProtKB:P42773 biolink:Protein UniProtKB:O00255 biolink:Protein Orphanet:908 biolink:Disease Fragile X syndrome UniProtKB:Q06787 biolink:Protein Orphanet:47 biolink:Disease X-linked agammaglobulinemia UniProtKB:Q06187 biolink:Protein Orphanet:905 biolink:Disease Wilson disease UniProtKB:P35670 biolink:Protein Orphanet:792 biolink:Disease X-linked retinoschisis UniProtKB:O15537 biolink:Protein Orphanet:827 biolink:Disease Stargardt disease UniProtKB:Q9NQW8 biolink:Protein UniProtKB:P23942 biolink:Protein UniProtKB:P78363 biolink:Protein UniProtKB:Q9GZR5 biolink:Protein UniProtKB:O43490 biolink:Protein Orphanet:906 biolink:Disease Wiskott-Aldrich syndrome UniProtKB:P42768 biolink:Protein UniProtKB:O43516 biolink:Protein Orphanet:904 biolink:Disease Williams syndrome UniProtKB:Q16623 biolink:Protein UniProtKB:Q9Y4P3 biolink:Protein UniProtKB:Q86UP8 biolink:Protein UniProtKB:Q86XT2 biolink:Protein UniProtKB:O75344 biolink:Protein UniProtKB:P35250 biolink:Protein UniProtKB:P14598 biolink:Protein UniProtKB:Q6UE05 biolink:Protein UniProtKB:Q9NP71 biolink:Protein UniProtKB:Q15056 biolink:Protein UniProtKB:Q96LL9 biolink:Protein UniProtKB:Q9BQE9 biolink:Protein UniProtKB:Q8N6F8 biolink:Protein UniProtKB:O43709 biolink:Protein UniProtKB:Q9UIG0 biolink:Protein UniProtKB:Q9UDT6 biolink:Protein UniProtKB:P15502 biolink:Protein UniProtKB:P78347 biolink:Protein UniProtKB:Q9UHL9 biolink:Protein UniProtKB:P53667 biolink:Protein Orphanet:280 biolink:Disease Wolf-Hirschhorn syndrome UniProtKB:Q5H8A4 biolink:Protein UniProtKB:O14810 biolink:Protein UniProtKB:Q13363 biolink:Protein UniProtKB:O96028 biolink:Protein UniProtKB:Q9H3P2 biolink:Protein UniProtKB:O95202 biolink:Protein Orphanet:15 biolink:Disease Achondroplasia UniProtKB:P22607 biolink:Protein Orphanet:96 biolink:Disease Ataxia with vitamin E deficiency UniProtKB:P49638 biolink:Protein Orphanet:101 biolink:Disease Dentatorubral pallidoluysian atrophy UniProtKB:P54259 biolink:Protein Orphanet:276 biolink:Disease T-B+ severe combined immunodeficiency due to gamma chain deficiency UniProtKB:P31785 biolink:Protein Orphanet:481 biolink:Disease Kennedy disease UniProtKB:P10275 biolink:Protein Orphanet:664 biolink:Disease Ornithine transcarbamylase deficiency UniProtKB:P00480 biolink:Protein Orphanet:394 biolink:Disease Classic homocystinuria UniProtKB:P35520 biolink:Protein Orphanet:508 biolink:Disease Leprechaunism UniProtKB:P06213 biolink:Protein Orphanet:163596 biolink:Disease Hb Bart's hydrops fetalis UniProtKB:P69905 biolink:Protein UniProtKB:P69905 biolink:Protein Orphanet:429 biolink:Disease Hypochondroplasia UniProtKB:P22607 biolink:Protein Orphanet:104 biolink:Disease Leber hereditary optic neuropathy UniProtKB:O75306 biolink:Protein UniProtKB:Q96LL9 biolink:Protein UniProtKB:P00846 biolink:Protein UniProtKB:P00395 biolink:Protein UniProtKB:P00414 biolink:Protein UniProtKB:P00156 biolink:Protein UniProtKB:P03886 biolink:Protein UniProtKB:P03891 biolink:Protein UniProtKB:P03905 biolink:Protein UniProtKB:P03901 biolink:Protein UniProtKB:P03915 biolink:Protein UniProtKB:P03923 biolink:Protein Orphanet:2182 biolink:Disease Hydrocephalus with stenosis of the aqueduct of Sylvius UniProtKB:P32004 biolink:Protein Orphanet:163634 biolink:Disease Maffucci syndrome UniProtKB:P48735 biolink:Protein UniProtKB:O75874 biolink:Protein Orphanet:163717 biolink:Disease Benign familial mesial temporal lobe epilepsy UniProtKB:Q8N4T0 biolink:Protein Orphanet:649 biolink:Disease Norrie disease UniProtKB:Q00604 biolink:Protein Orphanet:163727 biolink:Disease Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome UniProtKB:Q9ULP9 biolink:Protein Orphanet:163721 biolink:Disease Rolandic epilepsy-speech dyspraxia syndrome UniProtKB:O60687 biolink:Protein UniProtKB:Q12879 biolink:Protein Orphanet:163684 biolink:Disease Leukoencephalopathy-dystonia-motor neuropathy syndrome UniProtKB:P22307 biolink:Protein Orphanet:163681 biolink:Disease CNTNAP2-related developmental and epileptic encephalopathy UniProtKB:Q9UHC6 biolink:Protein Orphanet:379 biolink:Disease Chronic granulomatous disease UniProtKB:P04839 biolink:Protein UniProtKB:P14598 biolink:Protein UniProtKB:P19878 biolink:Protein UniProtKB:P13498 biolink:Protein UniProtKB:Q15080 biolink:Protein UniProtKB:Q9BQA9 biolink:Protein Orphanet:16 biolink:Disease Blue cone monochromatism UniProtKB:P04001 biolink:Protein UniProtKB:P04000 biolink:Protein Orphanet:163699 biolink:Disease Alveolar soft tissue sarcoma UniProtKB:P19532 biolink:Protein UniProtKB:Q9BZE9 biolink:Protein Orphanet:644 biolink:Disease NARP syndrome UniProtKB:P00846 biolink:Protein Orphanet:637 biolink:Disease Full NF2-related schwannomatosis UniProtKB:P35240 biolink:Protein Orphanet:163696 biolink:Disease Action myoclonus-renal failure syndrome UniProtKB:Q14108 biolink:Protein Orphanet:181 biolink:Disease X-linked hypohidrotic ectodermal dysplasia UniProtKB:Q92838 biolink:Protein UniProtKB:Q9HAV5 biolink:Protein Orphanet:163693 biolink:Disease 2p21 microdeletion syndrome UniProtKB:Q07837 biolink:Protein UniProtKB:Q4J6C6 biolink:Protein UniProtKB:Q7Z624 biolink:Protein UniProtKB:O75688 biolink:Protein Orphanet:163690 biolink:Disease Hypotonia-cystinuria syndrome UniProtKB:Q07837 biolink:Protein UniProtKB:Q4J6C6 biolink:Protein Orphanet:337 biolink:Disease Fibrodysplasia ossificans progressiva UniProtKB:Q04771 biolink:Protein Orphanet:377 biolink:Disease Gorlin syndrome UniProtKB:Q13635 biolink:Protein UniProtKB:Q9UMX1 biolink:Protein UniProtKB:Q9Y6C5 biolink:Protein Orphanet:648 biolink:Disease Noonan syndrome UniProtKB:P10301 biolink:Protein UniProtKB:O14807 biolink:Protein UniProtKB:Q7Z698 biolink:Protein UniProtKB:P62070 biolink:Protein UniProtKB:Q06124 biolink:Protein UniProtKB:P22681 biolink:Protein UniProtKB:Q07889 biolink:Protein UniProtKB:P01116 biolink:Protein UniProtKB:P04049 biolink:Protein UniProtKB:P01111 biolink:Protein UniProtKB:Q92963 biolink:Protein UniProtKB:Q8N653 biolink:Protein UniProtKB:Q15283 biolink:Protein UniProtKB:Q07890 biolink:Protein Orphanet:281 biolink:Disease Monosomy 5p UniProtKB:Q13591 biolink:Protein UniProtKB:Q9UQB3 biolink:Protein Orphanet:752 biolink:Disease 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency UniProtKB:P37058 biolink:Protein Orphanet:510 biolink:Disease Lesch-Nyhan syndrome UniProtKB:P00492 biolink:Protein Orphanet:524 biolink:Disease Li-Fraumeni syndrome UniProtKB:P42771 biolink:Protein UniProtKB:Q00987 biolink:Protein UniProtKB:P04637 biolink:Protein UniProtKB:O96017 biolink:Protein Orphanet:640 biolink:Disease Hereditary neuropathy with liability to pressure palsies UniProtKB:Q01453 biolink:Protein UniProtKB:Q01453 biolink:Protein Orphanet:60 biolink:Disease Alpha-1-antitrypsin deficiency UniProtKB:P01009 biolink:Protein Orphanet:895 biolink:Disease Waardenburg syndrome type 2 UniProtKB:P21583 biolink:Protein UniProtKB:P14679 biolink:Protein UniProtKB:O43623 biolink:Protein UniProtKB:P56693 biolink:Protein UniProtKB:O75030 biolink:Protein UniProtKB:P24530 biolink:Protein Orphanet:896 biolink:Disease Waardenburg syndrome type 3 UniProtKB:P23760 biolink:Protein Orphanet:857 biolink:Disease Townes-Brocks syndrome UniProtKB:Q9NSC2 biolink:Protein UniProtKB:Q9NYF0 biolink:Protein Orphanet:894 biolink:Disease Waardenburg syndrome type 1 UniProtKB:P23760 biolink:Protein Orphanet:682 biolink:Disease Hyperkalemic periodic paralysis UniProtKB:P35499 biolink:Protein Orphanet:800 biolink:Disease Schwartz-Jampel syndrome UniProtKB:P98160 biolink:Protein Orphanet:628 biolink:Disease Diastrophic dysplasia UniProtKB:P50443 biolink:Protein Orphanet:681 biolink:Disease Hypokalemic periodic paralysis UniProtKB:P35499 biolink:Protein UniProtKB:Q13698 biolink:Protein UniProtKB:Q9Y6H6 biolink:Protein Orphanet:107 biolink:Disease BOR syndrome UniProtKB:Q15475 biolink:Protein UniProtKB:Q99502 biolink:Protein UniProtKB:Q8N196 biolink:Protein Orphanet:774 biolink:Disease Hereditary hemorrhagic telangiectasia UniProtKB:P37023 biolink:Protein UniProtKB:Q13485 biolink:Protein UniProtKB:P17813 biolink:Protein UniProtKB:Q9UK05 biolink:Protein Orphanet:794 biolink:Disease Saethre-Chotzen syndrome UniProtKB:P22607 biolink:Protein UniProtKB:P21802 biolink:Protein UniProtKB:Q15672 biolink:Protein Orphanet:2869 biolink:Disease Peutz-Jeghers syndrome UniProtKB:Q15831 biolink:Protein Orphanet:862 biolink:Disease NON RARE IN EUROPE: Hereditary essential tremor UniProtKB:P35462 biolink:Protein UniProtKB:P35637 biolink:Protein UniProtKB:Q96FE5 biolink:Protein UniProtKB:Q6N022 biolink:Protein Orphanet:893 biolink:Disease WAGR syndrome UniProtKB:P23560 biolink:Protein UniProtKB:P19544 biolink:Protein UniProtKB:P26367 biolink:Protein Orphanet:912 biolink:Disease Zellweger syndrome UniProtKB:O96011 biolink:Protein UniProtKB:P28328 biolink:Protein UniProtKB:O43933 biolink:Protein UniProtKB:O60683 biolink:Protein UniProtKB:O00623 biolink:Protein UniProtKB:Q92968 biolink:Protein UniProtKB:O75381 biolink:Protein UniProtKB:Q9Y5Y5 biolink:Protein UniProtKB:P40855 biolink:Protein UniProtKB:Q7Z412 biolink:Protein UniProtKB:P56589 biolink:Protein UniProtKB:P50542 biolink:Protein UniProtKB:Q13608 biolink:Protein Orphanet:53 biolink:Disease Albers-Schönberg osteopetrosis UniProtKB:P51798 biolink:Protein Orphanet:14 biolink:Disease Abetalipoproteinemia UniProtKB:P55157 biolink:Protein Orphanet:167 biolink:Disease Chédiak-Higashi syndrome UniProtKB:Q99698 biolink:Protein Orphanet:207 biolink:Disease Crouzon syndrome UniProtKB:P21802 biolink:Protein UniProtKB:P50548 biolink:Protein Orphanet:201 biolink:Disease Cowden syndrome UniProtKB:P60484 biolink:Protein UniProtKB:Q68DE3 biolink:Protein UniProtKB:P42336 biolink:Protein UniProtKB:P21912 biolink:Protein UniProtKB:O14521 biolink:Protein UniProtKB:Q99643 biolink:Protein UniProtKB:Q15437 biolink:Protein UniProtKB:P31749 biolink:Protein UniProtKB:B2CW77 biolink:Protein Orphanet:192 biolink:Disease Coffin-Lowry syndrome UniProtKB:P51812 biolink:Protein Orphanet:169808 biolink:Disease Mild hemophilia A UniProtKB:P00451 biolink:Protein Orphanet:169802 biolink:Disease Severe hemophilia A UniProtKB:P00451 biolink:Protein Orphanet:169805 biolink:Disease Moderate hemophilia A UniProtKB:P00451 biolink:Protein Orphanet:562 biolink:Disease McCune-Albright syndrome UniProtKB:P63092 biolink:Protein Orphanet:565 biolink:Disease Menkes disease UniProtKB:Q04656 biolink:Protein Orphanet:555 biolink:Disease NON RARE IN EUROPE: Celiac disease UniProtKB:P01911 biolink:Protein UniProtKB:P01909 biolink:Protein UniProtKB:P01920 biolink:Protein Orphanet:474 biolink:Disease Jeune syndrome UniProtKB:Q8TCX1 biolink:Protein UniProtKB:Q9P2H3 biolink:Protein UniProtKB:Q8NCM8 biolink:Protein UniProtKB:Q7Z4L5 biolink:Protein UniProtKB:Q8NEZ3 biolink:Protein UniProtKB:Q96RY7 biolink:Protein UniProtKB:Q8WVS4 biolink:Protein UniProtKB:Q9UG01 biolink:Protein UniProtKB:Q96EX3 biolink:Protein UniProtKB:Q8N960 biolink:Protein Orphanet:540 biolink:Disease Familial hemophagocytic lymphohistiocytosis UniProtKB:P14222 biolink:Protein UniProtKB:O75558 biolink:Protein UniProtKB:Q70J99 biolink:Protein UniProtKB:Q15833 biolink:Protein Orphanet:568 biolink:Disease Microphthalmia, Lenz type UniProtKB:Q6W2J9 biolink:Protein UniProtKB:P41227 biolink:Protein Orphanet:564 biolink:Disease Meckel syndrome UniProtKB:Q96J42 biolink:Protein UniProtKB:Q6UX40 biolink:Protein UniProtKB:Q2MV58 biolink:Protein UniProtKB:Q96Q45 biolink:Protein UniProtKB:Q96KN7 biolink:Protein UniProtKB:O15078 biolink:Protein UniProtKB:Q5HYA8 biolink:Protein UniProtKB:Q9NXB0 biolink:Protein UniProtKB:Q68CZ1 biolink:Protein UniProtKB:Q9P2K1 biolink:Protein UniProtKB:Q9P0N5 biolink:Protein UniProtKB:Q6NUS6 biolink:Protein UniProtKB:Q96GX1 biolink:Protein UniProtKB:Q9UPM9 biolink:Protein UniProtKB:Q9BPU9 biolink:Protein UniProtKB:Q9H6L2 biolink:Protein UniProtKB:Q1MSJ5 biolink:Protein Orphanet:289 biolink:Disease Ellis Van Creveld syndrome UniProtKB:Q8TCX1 biolink:Protein UniProtKB:P08151 biolink:Protein UniProtKB:P57679 biolink:Protein UniProtKB:Q86UK5 biolink:Protein UniProtKB:P17612 biolink:Protein UniProtKB:P22694 biolink:Protein Orphanet:258 biolink:Disease Laminin subunit alpha 2-related congenital muscular dystrophy UniProtKB:P24043 biolink:Protein Orphanet:1646 biolink:Disease Partial chromosome Y deletion UniProtKB:O00507 biolink:Protein UniProtKB:Q9NQZ3 biolink:Protein UniProtKB:Q13117 biolink:Protein UniProtKB:Q9NR90 biolink:Protein UniProtKB:Q86SG3 biolink:Protein UniProtKB:O15523 biolink:Protein UniProtKB:P0DJD3 biolink:Protein UniProtKB:Q01534 biolink:Protein Orphanet:169464 biolink:Disease Primary CD59 deficiency UniProtKB:P13987 biolink:Protein Orphanet:87 biolink:Disease Apert syndrome UniProtKB:P21802 biolink:Protein Orphanet:169615 biolink:Disease Idiopathic central precocious puberty UniProtKB:Q969F8 biolink:Protein UniProtKB:Q13064 biolink:Protein UniProtKB:P80370 biolink:Protein Orphanet:97 biolink:Disease Familial paroxysmal ataxia UniProtKB:O00555 biolink:Protein Orphanet:169467 biolink:Disease Recurrent Neisseria infections due to factor D deficiency UniProtKB:P00746 biolink:Protein Orphanet:313 biolink:Disease Lamellar ichthyosis UniProtKB:O00204 biolink:Protein UniProtKB:Q53RT3 biolink:Protein UniProtKB:Q8NEX9 biolink:Protein UniProtKB:Q86UK0 biolink:Protein UniProtKB:O75342 biolink:Protein UniProtKB:Q9BYJ1 biolink:Protein UniProtKB:P22735 biolink:Protein UniProtKB:Q6NT55 biolink:Protein UniProtKB:Q0D2K0 biolink:Protein UniProtKB:Q5VXI9 biolink:Protein Orphanet:169799 biolink:Disease Mild hemophilia B UniProtKB:P00740 biolink:Protein Orphanet:169796 biolink:Disease Moderate hemophilia B UniProtKB:P00740 biolink:Protein Orphanet:169793 biolink:Disease Severe hemophilia B UniProtKB:P00740 biolink:Protein Orphanet:406 biolink:Disease NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia UniProtKB:Q9ULZ2 biolink:Protein UniProtKB:P04114 biolink:Protein UniProtKB:P02649 biolink:Protein UniProtKB:P01130 biolink:Protein UniProtKB:Q8NBP7 biolink:Protein UniProtKB:P38571 biolink:Protein Orphanet:1000 biolink:Disease Ocular albinism with late-onset sensorineural deafness UniProtKB:O14617 biolink:Protein Orphanet:171430 biolink:Disease Severe congenital nemaline myopathy UniProtKB:P68133 biolink:Protein UniProtKB:P20929 biolink:Protein UniProtKB:Q2TBA0 biolink:Protein UniProtKB:O60662 biolink:Protein UniProtKB:Q0VAK6 biolink:Protein Orphanet:171433 biolink:Disease Intermediate nemaline myopathy UniProtKB:P06753 biolink:Protein UniProtKB:P68133 biolink:Protein UniProtKB:P20929 biolink:Protein UniProtKB:O60662 biolink:Protein Orphanet:171436 biolink:Disease Typical nemaline myopathy UniProtKB:P68133 biolink:Protein UniProtKB:Q9Y281 biolink:Protein UniProtKB:P07951 biolink:Protein UniProtKB:P20929 biolink:Protein UniProtKB:O60662 biolink:Protein UniProtKB:Q0VAK6 biolink:Protein Orphanet:171439 biolink:Disease Childhood-onset nemaline myopathy UniProtKB:P07951 biolink:Protein UniProtKB:Q86TC9 biolink:Protein UniProtKB:P68133 biolink:Protein UniProtKB:P06753 biolink:Protein UniProtKB:P20929 biolink:Protein UniProtKB:C9JR72 biolink:Protein UniProtKB:O60662 biolink:Protein Orphanet:171445 biolink:Disease Muscle filaminopathy UniProtKB:Q14315 biolink:Protein Orphanet:171607 biolink:Disease X-linked spastic paraplegia type 34 Orphanet:2771 biolink:Disease Bruck syndrome UniProtKB:O00469 biolink:Protein UniProtKB:Q96AY3 biolink:Protein Orphanet:106 biolink:Disease NON RARE IN EUROPE: Autism UniProtKB:Q96DA2 biolink:Protein UniProtKB:P19622 biolink:Protein UniProtKB:Q9BYB0 biolink:Protein UniProtKB:Q9NZ94 biolink:Protein UniProtKB:Q8N0W4 biolink:Protein UniProtKB:P51608 biolink:Protein UniProtKB:P08581 biolink:Protein UniProtKB:Q9UHC6 biolink:Protein UniProtKB:Q8WXX7 biolink:Protein UniProtKB:P28472 biolink:Protein UniProtKB:Q9ULB1 biolink:Protein UniProtKB:P06730 biolink:Protein UniProtKB:Q8IVB4 biolink:Protein UniProtKB:Q9HCK8 biolink:Protein UniProtKB:Q9UPX8 biolink:Protein UniProtKB:Q96NR3 biolink:Protein Orphanet:171612 biolink:Disease Autosomal dominant spastic paraplegia type 37 UniProtKB:O00505 biolink:Protein Orphanet:171617 biolink:Disease Autosomal dominant spastic paraplegia type 38 Orphanet:1349 biolink:Disease Mitochondrial DNA-related cardiomyopathy and hearing loss Orphanet:171622 biolink:Disease Autosomal recessive spastic paraplegia type 32 Orphanet:171629 biolink:Disease Autosomal recessive spastic paraplegia type 35 UniProtKB:Q7L5A8 biolink:Protein Orphanet:357 biolink:Disease NON RARE IN EUROPE: Gilbert syndrome UniProtKB:P22309 biolink:Protein Orphanet:861 biolink:Disease Treacher-Collins syndrome UniProtKB:Q9H9Y6 biolink:Protein UniProtKB:Q13428 biolink:Protein UniProtKB:P0DPB5 biolink:Protein UniProtKB:O15160 biolink:Protein Orphanet:308 biolink:Disease Progressive myoclonic epilepsy type 1 UniProtKB:P04080 biolink:Protein UniProtKB:Q14108 biolink:Protein UniProtKB:Q96MT3 biolink:Protein Orphanet:199 biolink:Disease Cornelia de Lange syndrome UniProtKB:Q14683 biolink:Protein UniProtKB:Q6KC79 biolink:Protein UniProtKB:Q9UQE7 biolink:Protein UniProtKB:Q9BY41 biolink:Protein UniProtKB:O60216 biolink:Protein UniProtKB:O60885 biolink:Protein Orphanet:930 biolink:Disease Idiopathic achalasia UniProtKB:O75462 biolink:Protein UniProtKB:P01909 biolink:Protein UniProtKB:P01920 biolink:Protein UniProtKB:P29475 biolink:Protein Orphanet:1727 biolink:Disease 22q11.2 duplication syndrome UniProtKB:O43435 biolink:Protein Orphanet:169079 biolink:Disease Cernunnos-XLF deficiency UniProtKB:Q9H9Q4 biolink:Protein Orphanet:169100 biolink:Disease Immunodeficiency due to CD25 deficiency UniProtKB:P01589 biolink:Protein Orphanet:169095 biolink:Disease Severe combined immunodeficiency due to FOXN1 deficiency UniProtKB:O15353 biolink:Protein Orphanet:169082 biolink:Disease Combined immunodeficiency due to CD3gamma deficiency UniProtKB:P09693 biolink:Protein Orphanet:169085 biolink:Disease Susceptibility to respiratory infections associated with CD8alpha chain mutation UniProtKB:P01732 biolink:Protein Orphanet:168829 biolink:Disease Primary peritoneal carcinoma UniProtKB:P38398 biolink:Protein Orphanet:753 biolink:Disease 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency UniProtKB:P31213 biolink:Protein Orphanet:868 biolink:Disease Triose phosphate-isomerase deficiency UniProtKB:P60174 biolink:Protein Orphanet:218 biolink:Disease Darier disease UniProtKB:P16615 biolink:Protein Orphanet:168796 biolink:Disease Heart-hand syndrome, Slovenian type UniProtKB:P02545 biolink:Protein Orphanet:1465 biolink:Disease Coffin-Siris syndrome UniProtKB:Q68CP9 biolink:Protein UniProtKB:Q12824 biolink:Protein UniProtKB:P51532 biolink:Protein UniProtKB:Q8NFD5 biolink:Protein UniProtKB:O14497 biolink:Protein UniProtKB:Q969G3 biolink:Protein UniProtKB:P35716 biolink:Protein UniProtKB:Q06945 biolink:Protein UniProtKB:Q92785 biolink:Protein UniProtKB:Q96GM5 biolink:Protein UniProtKB:Q8TAQ2 biolink:Protein Orphanet:168953 biolink:Disease Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement UniProtKB:P11362 biolink:Protein Orphanet:168950 biolink:Disease Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement UniProtKB:P09619 biolink:Protein Orphanet:168947 biolink:Disease Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement UniProtKB:P16234 biolink:Protein Orphanet:168940 biolink:Disease Chronic eosinophilic leukemia UniProtKB:Q6UN15 biolink:Protein UniProtKB:P16234 biolink:Protein Orphanet:2609 biolink:Disease Isolated complex I deficiency UniProtKB:Q8IUX1 biolink:Protein UniProtKB:A1L188 biolink:Protein UniProtKB:Q9NPL8 biolink:Protein UniProtKB:Q9NX14 biolink:Protein UniProtKB:P56556 biolink:Protein UniProtKB:P03886 biolink:Protein UniProtKB:P03891 biolink:Protein UniProtKB:P03897 biolink:Protein UniProtKB:Q8N183 biolink:Protein UniProtKB:P28331 biolink:Protein UniProtKB:O75306 biolink:Protein UniProtKB:O75489 biolink:Protein UniProtKB:O43181 biolink:Protein UniProtKB:O75380 biolink:Protein UniProtKB:O75251 biolink:Protein UniProtKB:O00217 biolink:Protein UniProtKB:P49821 biolink:Protein UniProtKB:P19404 biolink:Protein UniProtKB:O15239 biolink:Protein UniProtKB:Q9P032 biolink:Protein UniProtKB:Q5TEU4 biolink:Protein UniProtKB:Q86Y39 biolink:Protein UniProtKB:Q9BU61 biolink:Protein UniProtKB:Q8TB37 biolink:Protein UniProtKB:Q96CU9 biolink:Protein UniProtKB:Q9Y375 biolink:Protein UniProtKB:Q9Y6M9 biolink:Protein UniProtKB:O43676 biolink:Protein UniProtKB:O96000 biolink:Protein Orphanet:626 biolink:Disease Large congenital melanocytic nevus UniProtKB:Q01726 biolink:Protein UniProtKB:P01111 biolink:Protein Orphanet:773 biolink:Disease Refsum disease UniProtKB:O14832 biolink:Protein UniProtKB:O00628 biolink:Protein Orphanet:169154 biolink:Disease T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency UniProtKB:P16871 biolink:Protein Orphanet:169150 biolink:Disease Immunodeficiency due to a late component of complement deficiency UniProtKB:P01031 biolink:Protein UniProtKB:P13671 biolink:Protein UniProtKB:P10643 biolink:Protein UniProtKB:P07357 biolink:Protein UniProtKB:P07358 biolink:Protein UniProtKB:P07360 biolink:Protein UniProtKB:P02748 biolink:Protein Orphanet:169160 biolink:Disease T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta UniProtKB:P04234 biolink:Protein UniProtKB:P07766 biolink:Protein UniProtKB:P20963 biolink:Protein Orphanet:169157 biolink:Disease T-B+ severe combined immunodeficiency due to CD45 deficiency UniProtKB:P08575 biolink:Protein Orphanet:1947 biolink:Disease Progressive epilepsy-intellectual disability syndrome, Finnish type UniProtKB:Q9UBY8 biolink:Protein Orphanet:169147 biolink:Disease Immunodeficiency due to a classical component pathway complement deficiency UniProtKB:P06681 biolink:Protein UniProtKB:P0C0L4 biolink:Protein UniProtKB:P0C0L5 biolink:Protein UniProtKB:P02745 biolink:Protein UniProtKB:P02746 biolink:Protein UniProtKB:P02747 biolink:Protein UniProtKB:P09871 biolink:Protein UniProtKB:P00736 biolink:Protein Orphanet:169142 biolink:Disease Recurrent infection due to specific granule deficiency UniProtKB:Q15744 biolink:Protein UniProtKB:Q92925 biolink:Protein Orphanet:596 biolink:Disease X-linked centronuclear myopathy UniProtKB:Q13496 biolink:Protein Orphanet:610 biolink:Disease Bethlem myopathy UniProtKB:P12109 biolink:Protein UniProtKB:P12110 biolink:Protein UniProtKB:P12111 biolink:Protein UniProtKB:Q99715 biolink:Protein Orphanet:169186 biolink:Disease Autosomal recessive centronuclear myopathy UniProtKB:Q8WZ42 biolink:Protein UniProtKB:Q15772 biolink:Protein UniProtKB:P21817 biolink:Protein UniProtKB:O00499 biolink:Protein Orphanet:464 biolink:Disease Incontinentia pigmenti UniProtKB:Q9Y6K9 biolink:Protein Orphanet:169189 biolink:Disease Autosomal dominant centronuclear myopathy UniProtKB:P21817 biolink:Protein UniProtKB:P50570 biolink:Protein UniProtKB:P23409 biolink:Protein UniProtKB:O00499 biolink:Protein UniProtKB:Q8NCE2 biolink:Protein Orphanet:44 biolink:Disease Neonatal adrenoleukodystrophy UniProtKB:P28328 biolink:Protein UniProtKB:O43933 biolink:Protein UniProtKB:O60683 biolink:Protein UniProtKB:O00623 biolink:Protein UniProtKB:Q92968 biolink:Protein UniProtKB:O75381 biolink:Protein UniProtKB:Q9Y5Y5 biolink:Protein UniProtKB:P40855 biolink:Protein UniProtKB:Q7Z412 biolink:Protein UniProtKB:P56589 biolink:Protein UniProtKB:P50542 biolink:Protein UniProtKB:Q13608 biolink:Protein UniProtKB:O96011 biolink:Protein Orphanet:56 biolink:Disease Alkaptonuria UniProtKB:Q93099 biolink:Protein Orphanet:963 biolink:Disease Acromegaly UniProtKB:O00170 biolink:Protein UniProtKB:Q96P66 biolink:Protein Orphanet:1059 biolink:Disease Blue rubber bleb nevus UniProtKB:Q02763 biolink:Protein Orphanet:22 biolink:Disease Succinic semialdehyde dehydrogenase deficiency UniProtKB:P51649 biolink:Protein Orphanet:29 biolink:Disease Mevalonic aciduria UniProtKB:Q03426 biolink:Protein Orphanet:245 biolink:Disease Nager syndrome UniProtKB:Q15427 biolink:Protein Orphanet:30 biolink:Disease Hereditary orotic aciduria UniProtKB:P11172 biolink:Protein Orphanet:36 biolink:Disease Acrocallosal syndrome UniProtKB:P10071 biolink:Protein UniProtKB:Q2M1P5 biolink:Protein Orphanet:915 biolink:Disease Aarskog-Scott syndrome UniProtKB:P98174 biolink:Protein Orphanet:2614 biolink:Disease Nail-patella syndrome UniProtKB:O60663 biolink:Protein Orphanet:33 biolink:Disease Isovaleric acidemia UniProtKB:P26440 biolink:Protein Orphanet:819 biolink:Disease Smith-Magenis syndrome UniProtKB:O75398 biolink:Protein UniProtKB:Q7Z5J4 biolink:Protein UniProtKB:Q13045 biolink:Protein UniProtKB:Q5JU85 biolink:Protein Orphanet:168615 biolink:Disease Hereditary persistence of alpha-fetoprotein UniProtKB:P02771 biolink:Protein Orphanet:168612 biolink:Disease Congenital deficiency in alpha-fetoprotein UniProtKB:P02771 biolink:Protein Orphanet:1452 biolink:Disease Cleidocranial dysplasia UniProtKB:Q13950 biolink:Protein Orphanet:168629 biolink:Disease Autosomal thrombocytopenia with normal platelets UniProtKB:Q9H5V7 biolink:Protein UniProtKB:Q96GX5 biolink:Protein UniProtKB:P99999 biolink:Protein UniProtKB:Q9UPS8 biolink:Protein Orphanet:168624 biolink:Disease Familial scaphocephaly syndrome, McGillivray type UniProtKB:P21802 biolink:Protein Orphanet:193 biolink:Disease Cohen syndrome UniProtKB:Q7Z7G8 biolink:Protein Orphanet:1334 biolink:Disease Chronic mucocutaneous candidiasis UniProtKB:Q9BXN2 biolink:Protein UniProtKB:Q96F46 biolink:Protein UniProtKB:Q96PD4 biolink:Protein UniProtKB:O43734 biolink:Protein UniProtKB:Q8NAC3 biolink:Protein Orphanet:168583 biolink:Disease Hereditary North American Indian childhood cirrhosis UniProtKB:Q969X6 biolink:Protein Orphanet:1369 biolink:Disease Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome UniProtKB:Q3LXA3 biolink:Protein UniProtKB:P12235 biolink:Protein UniProtKB:Q53H12 biolink:Protein Orphanet:168577 biolink:Disease Hereditary cryohydrocytosis with reduced stomatin UniProtKB:P11166 biolink:Protein Orphanet:168593 biolink:Disease Sudden infant death-dysgenesis of the testes syndrome UniProtKB:Q9H0U9 biolink:Protein Orphanet:168588 biolink:Disease Hyperandrogenism due to cortisone reductase deficiency UniProtKB:O95479 biolink:Protein UniProtKB:P28845 biolink:Protein Orphanet:168601 biolink:Disease Congenital enteropathy due to enteropeptidase deficiency UniProtKB:P98073 biolink:Protein Orphanet:168598 biolink:Disease Brain demyelination due to methionine adenosyltransferase deficiency UniProtKB:Q00266 biolink:Protein Orphanet:168606 biolink:Disease Seborrhea-like dermatitis with psoriasiform elements UniProtKB:Q32MQ0 biolink:Protein Orphanet:1154 biolink:Disease Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome UniProtKB:Q9H5I5 biolink:Protein Orphanet:1162 biolink:Disease NON RARE IN EUROPE: Asperger syndrome UniProtKB:Q9NZ94 biolink:Protein UniProtKB:Q8N0W4 biolink:Protein Orphanet:168558 biolink:Disease 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency UniProtKB:P05108 biolink:Protein Orphanet:168563 biolink:Disease 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome UniProtKB:O43323 biolink:Protein Orphanet:124 biolink:Disease Blackfan-Diamond anemia UniProtKB:Q07020 biolink:Protein UniProtKB:P42677 biolink:Protein UniProtKB:P61353 biolink:Protein UniProtKB:P62244 biolink:Protein UniProtKB:Q969E8 biolink:Protein UniProtKB:P42766 biolink:Protein UniProtKB:P62899 biolink:Protein UniProtKB:Q9NZK5 biolink:Protein UniProtKB:P60866 biolink:Protein UniProtKB:P39019 biolink:Protein UniProtKB:P62847 biolink:Protein UniProtKB:P15976 biolink:Protein UniProtKB:P08708 biolink:Protein UniProtKB:P62081 biolink:Protein UniProtKB:P46777 biolink:Protein UniProtKB:P62913 biolink:Protein UniProtKB:P18077 biolink:Protein UniProtKB:P46783 biolink:Protein UniProtKB:P62854 biolink:Protein UniProtKB:P61254 biolink:Protein UniProtKB:P61313 biolink:Protein UniProtKB:P62273 biolink:Protein UniProtKB:P62857 biolink:Protein Orphanet:168566 biolink:Disease Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 UniProtKB:P43897 biolink:Protein Orphanet:1310 biolink:Disease Caffey disease UniProtKB:P02452 biolink:Protein Orphanet:168569 biolink:Disease H syndrome UniProtKB:Q9BZD2 biolink:Protein Orphanet:168572 biolink:Disease Native American myopathy UniProtKB:Q96MF2 biolink:Protein Orphanet:125 biolink:Disease Bloom syndrome UniProtKB:P54132 biolink:Protein Orphanet:90 biolink:Disease Argininemia UniProtKB:P05089 biolink:Protein Orphanet:1065 biolink:Disease Aniridia-cerebellar ataxia-intellectual disability syndrome UniProtKB:Q14643 biolink:Protein UniProtKB:P26367 biolink:Protein Orphanet:168454 biolink:Disease Spondyloepimetaphyseal dysplasia, Geneviève type UniProtKB:Q9NR45 biolink:Protein Orphanet:1146 biolink:Disease Distal arthrogryposis type 1 UniProtKB:Q8IZF0 biolink:Protein UniProtKB:P48788 biolink:Protein UniProtKB:P45378 biolink:Protein UniProtKB:P07951 biolink:Protein UniProtKB:P11055 biolink:Protein UniProtKB:Q00872 biolink:Protein Orphanet:1143 biolink:Disease Neurogenic arthrogryposis multiplex congenita UniProtKB:Q6P3W7 biolink:Protein UniProtKB:Q9BXS0 biolink:Protein UniProtKB:Q969X5 biolink:Protein Orphanet:1147 biolink:Disease Sheldon-Hall syndrome UniProtKB:Q8IZF0 biolink:Protein UniProtKB:P48788 biolink:Protein UniProtKB:P45378 biolink:Protein UniProtKB:P07951 biolink:Protein UniProtKB:P11055 biolink:Protein Orphanet:246 biolink:Disease Postaxial acrofacial dysostosis UniProtKB:Q02127 biolink:Protein Orphanet:1775 biolink:Disease Dyskeratosis congenita UniProtKB:P06748 biolink:Protein UniProtKB:O60832 biolink:Protein UniProtKB:O14746 biolink:Protein UniProtKB:Q9BSI4 biolink:Protein UniProtKB:Q9NPE3 biolink:Protein UniProtKB:Q9NX24 biolink:Protein UniProtKB:Q9BQ65 biolink:Protein UniProtKB:Q9BUR4 biolink:Protein UniProtKB:Q2NKJ3 biolink:Protein UniProtKB:Q9NZ71 biolink:Protein UniProtKB:O95453 biolink:Protein UniProtKB:P04818 biolink:Protein Orphanet:1764 biolink:Disease Familial dysautonomia UniProtKB:O95163 biolink:Protein Orphanet:235 biolink:Disease Dubowitz syndrome UniProtKB:P49917 biolink:Protein UniProtKB:Q08J23 biolink:Protein Orphanet:239 biolink:Disease Dyggve-Melchior-Clausen disease UniProtKB:Q7RTS9 biolink:Protein Orphanet:395 biolink:Disease Homocystinuria due to methylene tetrahydrofolate reductase deficiency UniProtKB:P42898 biolink:Protein Orphanet:147 biolink:Disease Carbamoyl-phosphate synthetase 1 deficiency UniProtKB:P31327 biolink:Protein Orphanet:23 biolink:Disease Argininosuccinic aciduria UniProtKB:P04424 biolink:Protein Orphanet:45 biolink:Disease Adenosine monophosphate deaminase deficiency UniProtKB:P23109 biolink:Protein UniProtKB:Q01432 biolink:Protein Orphanet:226 biolink:Disease Dihydropteridine reductase deficiency UniProtKB:P09417 biolink:Protein Orphanet:1556 biolink:Disease Cutis marmorata telangiectatica congenita UniProtKB:P29992 biolink:Protein UniProtKB:Q8N6S5 biolink:Protein Orphanet:1496 biolink:Disease Corpus callosum agenesis-neuronopathy syndrome UniProtKB:Q9UHW9 biolink:Protein Orphanet:417 biolink:Disease Neonatal severe primary hyperparathyroidism UniProtKB:Q9H1D0 biolink:Protein UniProtKB:P41180 biolink:Protein Orphanet:2248 biolink:Disease Hypoplastic left heart syndrome UniProtKB:P17302 biolink:Protein UniProtKB:P52952 biolink:Protein Orphanet:2140 biolink:Disease Congenital diaphragmatic hernia UniProtKB:P36776 biolink:Protein UniProtKB:Q8WW38 biolink:Protein UniProtKB:Q92908 biolink:Protein Orphanet:2116 biolink:Disease Hartnup disease UniProtKB:Q9HBJ8 biolink:Protein UniProtKB:Q695T7 biolink:Protein Orphanet:2118 biolink:Disease Hawkinsinuria UniProtKB:P32754 biolink:Protein Orphanet:351 biolink:Disease Galactosialidosis UniProtKB:P10619 biolink:Protein Orphanet:2020 biolink:Disease Congenital fiber-type disproportion myopathy UniProtKB:Q9NYL2 biolink:Protein UniProtKB:P68133 biolink:Protein UniProtKB:Q9NZV5 biolink:Protein UniProtKB:P07951 biolink:Protein UniProtKB:P06753 biolink:Protein UniProtKB:P10916 biolink:Protein UniProtKB:Q13683 biolink:Protein UniProtKB:B0YJ81 biolink:Protein Orphanet:2053 biolink:Disease Freeman-Sheldon syndrome UniProtKB:Q8IZF0 biolink:Protein UniProtKB:P11055 biolink:Protein Orphanet:1933 biolink:Disease Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria UniProtKB:Q9P2R7 biolink:Protein Orphanet:1880 biolink:Disease Ebstein malformation of the tricuspid valve UniProtKB:P12883 biolink:Protein Orphanet:1885 biolink:Disease Isolated ectopia lentis UniProtKB:P35555 biolink:Protein UniProtKB:Q6UY14 biolink:Protein Orphanet:635 biolink:Disease Neuroblastoma UniProtKB:P04198 biolink:Protein UniProtKB:P25800 biolink:Protein UniProtKB:Q99453 biolink:Protein UniProtKB:P11388 biolink:Protein UniProtKB:Q9UM73 biolink:Protein UniProtKB:Q9UM73 biolink:Protein UniProtKB:Q8IYU2 biolink:Protein UniProtKB:Q6ZN17 biolink:Protein Orphanet:2612 biolink:Disease Linear nevus sebaceus syndrome UniProtKB:P01112 biolink:Protein UniProtKB:P01116 biolink:Protein UniProtKB:P01111 biolink:Protein Orphanet:2635 biolink:Disease Metatropic dysplasia UniProtKB:Q9HBA0 biolink:Protein Orphanet:606 biolink:Disease Proximal myotonic myopathy UniProtKB:P62633 biolink:Protein Orphanet:705 biolink:Disease Pendred syndrome UniProtKB:O43511 biolink:Protein UniProtKB:P78508 biolink:Protein UniProtKB:Q12951 biolink:Protein Orphanet:2801 biolink:Disease Juvenile Paget disease UniProtKB:O00300 biolink:Protein UniProtKB:Q9Y6Q6 biolink:Protein Orphanet:2785 biolink:Disease Osteopetrosis with renal tubular acidosis UniProtKB:P00918 biolink:Protein Orphanet:2744 biolink:Disease Horizontal gaze palsy with progressive scoliosis UniProtKB:P43146 biolink:Protein UniProtKB:Q96MS0 biolink:Protein Orphanet:2746 biolink:Disease Opsismodysplasia UniProtKB:O15357 biolink:Protein Orphanet:2971 biolink:Disease Peroxisomal acyl-CoA oxidase deficiency UniProtKB:Q15067 biolink:Protein Orphanet:2970 biolink:Disease Prune belly syndrome UniProtKB:P20309 biolink:Protein Orphanet:744 biolink:Disease Proteus syndrome UniProtKB:P60484 biolink:Protein UniProtKB:P31749 biolink:Protein Orphanet:2903 biolink:Disease Familial spontaneous pneumothorax UniProtKB:Q8NFG4 biolink:Protein Orphanet:2901 biolink:Disease Neuralgic amyotrophy UniProtKB:Q9UHD8 biolink:Protein Orphanet:718 biolink:Disease Isolated Pierre Robin syndrome UniProtKB:P48436 biolink:Protein Orphanet:3071 biolink:Disease Costello syndrome UniProtKB:P01112 biolink:Protein Orphanet:763 biolink:Disease Pycnodysostosis UniProtKB:P43235 biolink:Protein Orphanet:2301 biolink:Disease Congenital short bowel syndrome UniProtKB:P21333 biolink:Protein UniProtKB:Q9H6B4 biolink:Protein Orphanet:469 biolink:Disease Hereditary fructose intolerance UniProtKB:P05062 biolink:Protein Orphanet:2308 biolink:Disease Jacobsen syndrome UniProtKB:Q01543 biolink:Protein Orphanet:2318 biolink:Disease Joubert syndrome with oculorenal defect UniProtKB:O15078 biolink:Protein UniProtKB:Q9P2K1 biolink:Protein UniProtKB:Q9P0N5 biolink:Protein UniProtKB:Q96Q45 biolink:Protein UniProtKB:Q9NPI0 biolink:Protein UniProtKB:Q2M1K9 biolink:Protein UniProtKB:Q9H6L2 biolink:Protein Orphanet:2253 biolink:Disease Foveal hypoplasia-presenile cataract syndrome UniProtKB:P26367 biolink:Protein Orphanet:180188 biolink:Disease Isolated congenital breast hypoplasia/aplasia UniProtKB:P10586 biolink:Protein Orphanet:2300 biolink:Disease Multiple intestinal atresia UniProtKB:Q9ULT0 biolink:Protein Orphanet:502 biolink:Disease Trichorhinophalangeal syndrome type 2 UniProtKB:Q9UHF7 biolink:Protein UniProtKB:Q16394 biolink:Protein Orphanet:477 biolink:Disease KID syndrome UniProtKB:P29033 biolink:Protein UniProtKB:O95452 biolink:Protein Orphanet:2377 biolink:Disease Laurence-Moon syndrome UniProtKB:Q8IY17 biolink:Protein Orphanet:2466 biolink:Disease MASA syndrome UniProtKB:P32004 biolink:Protein Orphanet:560 biolink:Disease Marshall syndrome UniProtKB:P12107 biolink:Protein Orphanet:587 biolink:Disease Muir-Torre syndrome UniProtKB:P40692 biolink:Protein UniProtKB:P43246 biolink:Protein UniProtKB:P52701 biolink:Protein Orphanet:570 biolink:Disease Moebius syndrome UniProtKB:Q9Y4D7 biolink:Protein UniProtKB:O60673 biolink:Protein Orphanet:179494 biolink:Disease Obesity due to leptin receptor gene deficiency UniProtKB:P48357 biolink:Protein Orphanet:287 biolink:Disease Classical Ehlers-Danlos syndrome UniProtKB:P05997 biolink:Protein UniProtKB:P20908 biolink:Protein UniProtKB:P02452 biolink:Protein Orphanet:1020 biolink:Disease Early-onset autosomal dominant Alzheimer disease UniProtKB:Q8IZY2 biolink:Protein UniProtKB:Q9NZC2 biolink:Protein UniProtKB:P49768 biolink:Protein UniProtKB:P49810 biolink:Protein UniProtKB:P05067 biolink:Protein UniProtKB:Q92673 biolink:Protein UniProtKB:O96008 biolink:Protein Orphanet:54 biolink:Disease X-linked recessive ocular albinism UniProtKB:O14617 biolink:Protein UniProtKB:P51810 biolink:Protein Orphanet:154 biolink:Disease Familial isolated dilated cardiomyopathy UniProtKB:Q15573 biolink:Protein UniProtKB:Q14896 biolink:Protein UniProtKB:Q9HAB8 biolink:Protein UniProtKB:P40123 biolink:Protein UniProtKB:O60706 biolink:Protein UniProtKB:P68032 biolink:Protein UniProtKB:P49768 biolink:Protein UniProtKB:P49810 biolink:Protein UniProtKB:Q14524 biolink:Protein UniProtKB:P31040 biolink:Protein UniProtKB:Q92629 biolink:Protein UniProtKB:Q16635 biolink:Protein UniProtKB:O15273 biolink:Protein UniProtKB:P19429 biolink:Protein UniProtKB:P45379 biolink:Protein UniProtKB:P09493 biolink:Protein UniProtKB:Q8WZ42 biolink:Protein UniProtKB:P02511 biolink:Protein UniProtKB:P50461 biolink:Protein UniProtKB:P17661 biolink:Protein UniProtKB:P11532 biolink:Protein UniProtKB:Q14126 biolink:Protein UniProtKB:O75072 biolink:Protein UniProtKB:O75112 biolink:Protein UniProtKB:Q9UPQ8 biolink:Protein UniProtKB:P13533 biolink:Protein UniProtKB:P12883 biolink:Protein UniProtKB:P04049 biolink:Protein UniProtKB:P42167 biolink:Protein UniProtKB:P63316 biolink:Protein UniProtKB:P18206 biolink:Protein UniProtKB:P35609 biolink:Protein UniProtKB:Q14192 biolink:Protein UniProtKB:P26678 biolink:Protein UniProtKB:O95817 biolink:Protein UniProtKB:Q5T481 biolink:Protein UniProtKB:Q0ZGT2 biolink:Protein UniProtKB:Q9NNW7 biolink:Protein UniProtKB:Q8WUU5 biolink:Protein UniProtKB:Q86TC9 biolink:Protein UniProtKB:Q16363 biolink:Protein UniProtKB:Q9HAZ2 biolink:Protein UniProtKB:Q15327 biolink:Protein UniProtKB:P02545 biolink:Protein UniProtKB:P15924 biolink:Protein UniProtKB:P61296 biolink:Protein UniProtKB:Q9UL15 biolink:Protein Orphanet:84 biolink:Disease Fanconi anemia UniProtKB:Q06609 biolink:Protein UniProtKB:Q9UI95 biolink:Protein UniProtKB:P38398 biolink:Protein UniProtKB:O43543 biolink:Protein UniProtKB:Q6PCD5 biolink:Protein UniProtKB:P51587 biolink:Protein UniProtKB:Q9BX63 biolink:Protein UniProtKB:Q92889 biolink:Protein UniProtKB:O15360 biolink:Protein UniProtKB:Q8NB91 biolink:Protein UniProtKB:Q00597 biolink:Protein UniProtKB:Q9BXW9 biolink:Protein UniProtKB:Q9HB96 biolink:Protein UniProtKB:Q9NPI8 biolink:Protein UniProtKB:O15287 biolink:Protein UniProtKB:Q9NW38 biolink:Protein UniProtKB:Q8IYD8 biolink:Protein UniProtKB:Q9NVI1 biolink:Protein UniProtKB:Q86YC2 biolink:Protein UniProtKB:O43502 biolink:Protein UniProtKB:Q8IY92 biolink:Protein UniProtKB:Q9NPD8 biolink:Protein Orphanet:155 biolink:Disease NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy UniProtKB:Q14315 biolink:Protein UniProtKB:O75112 biolink:Protein UniProtKB:P35609 biolink:Protein UniProtKB:O76041 biolink:Protein UniProtKB:P68032 biolink:Protein UniProtKB:P12883 biolink:Protein UniProtKB:P19429 biolink:Protein UniProtKB:P56539 biolink:Protein UniProtKB:O15273 biolink:Protein UniProtKB:P09493 biolink:Protein UniProtKB:P45379 biolink:Protein UniProtKB:Q8WZ42 biolink:Protein UniProtKB:P50461 biolink:Protein UniProtKB:P00846 biolink:Protein UniProtKB:P10916 biolink:Protein UniProtKB:P13533 biolink:Protein UniProtKB:Q9UGJ0 biolink:Protein UniProtKB:P08590 biolink:Protein UniProtKB:Q9H1R3 biolink:Protein UniProtKB:Q13642 biolink:Protein UniProtKB:P63316 biolink:Protein UniProtKB:P18206 biolink:Protein UniProtKB:P26678 biolink:Protein UniProtKB:Q0ZGT2 biolink:Protein UniProtKB:Q9NPC6 biolink:Protein UniProtKB:Q9BR39 biolink:Protein UniProtKB:Q96L12 biolink:Protein UniProtKB:Q86TC9 biolink:Protein UniProtKB:Q8IVG9 biolink:Protein UniProtKB:Q14896 biolink:Protein Orphanet:816 biolink:Disease Sjögren-Larsson syndrome UniProtKB:P51648 biolink:Protein Orphanet:821 biolink:Disease Sotos syndrome UniProtKB:Q96L73 biolink:Protein UniProtKB:Q9BYW2 biolink:Protein UniProtKB:O95996 biolink:Protein Orphanet:3204 biolink:Disease Stormorken-Sjaastad-Langslet syndrome UniProtKB:Q96D31 biolink:Protein UniProtKB:Q13586 biolink:Protein Orphanet:3205 biolink:Disease Sturge-Weber syndrome UniProtKB:P50148 biolink:Protein Orphanet:3320 biolink:Disease Thrombocytopenia-absent radius syndrome UniProtKB:Q9Y5S9 biolink:Protein Orphanet:887 biolink:Disease VACTERL/VATER association UniProtKB:P35453 biolink:Protein Orphanet:909 biolink:Disease Cerebrotendinous xanthomatosis UniProtKB:Q02318 biolink:Protein Orphanet:3447 biolink:Disease Weaver syndrome UniProtKB:O75530 biolink:Protein UniProtKB:Q96L73 biolink:Protein UniProtKB:Q15910 biolink:Protein UniProtKB:Q15022 biolink:Protein Orphanet:1422 biolink:Disease Chondrodysplasia-disorder of sex development syndrome UniProtKB:Q5VTY9 biolink:Protein Orphanet:178469 biolink:Disease Autosomal dominant non-syndromic intellectual disability UniProtKB:O43526 biolink:Protein UniProtKB:Q15303 biolink:Protein UniProtKB:Q8IWQ3 biolink:Protein UniProtKB:Q86YW9 biolink:Protein UniProtKB:P30531 biolink:Protein UniProtKB:Q9UPS6 biolink:Protein UniProtKB:Q00610 biolink:Protein UniProtKB:Q15811 biolink:Protein UniProtKB:Q7Z3G6 biolink:Protein UniProtKB:Q96JM3 biolink:Protein UniProtKB:P31629 biolink:Protein UniProtKB:Q9UGL1 biolink:Protein UniProtKB:Q9UL68 biolink:Protein UniProtKB:Q01105 biolink:Protein UniProtKB:P61204 biolink:Protein UniProtKB:Q9P0X4 biolink:Protein UniProtKB:P62491 biolink:Protein UniProtKB:Q08209 biolink:Protein UniProtKB:P42261 biolink:Protein UniProtKB:Q9NR82 biolink:Protein UniProtKB:Q15326 biolink:Protein UniProtKB:O00548 biolink:Protein UniProtKB:Q9UQD0 biolink:Protein UniProtKB:Q7L7X3 biolink:Protein UniProtKB:Q9HCF6 biolink:Protein UniProtKB:Q8NFP9 biolink:Protein UniProtKB:Q96RK0 biolink:Protein UniProtKB:P67870 biolink:Protein UniProtKB:Q9NR48 biolink:Protein UniProtKB:P39880 biolink:Protein UniProtKB:P15884 biolink:Protein UniProtKB:Q96PV0 biolink:Protein UniProtKB:Q8IZU9 biolink:Protein UniProtKB:Q8NF50 biolink:Protein UniProtKB:Q9P267 biolink:Protein UniProtKB:Q13224 biolink:Protein UniProtKB:P55291 biolink:Protein UniProtKB:Q12756 biolink:Protein UniProtKB:Q05586 biolink:Protein UniProtKB:Q14204 biolink:Protein UniProtKB:Q9Y698 biolink:Protein UniProtKB:Q9H4G0 biolink:Protein UniProtKB:O75398 biolink:Protein UniProtKB:Q05639 biolink:Protein UniProtKB:Q9UQM7 biolink:Protein UniProtKB:Q13554 biolink:Protein Orphanet:178461 biolink:Disease X-linked myopathy with postural muscle atrophy UniProtKB:Q13642 biolink:Protein Orphanet:178464 biolink:Disease Hereditary myopathy with early respiratory failure UniProtKB:Q8WZ42 biolink:Protein Orphanet:178396 biolink:Disease Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation UniProtKB:P01009 biolink:Protein Orphanet:178400 biolink:Disease Distal myopathy with anterior tibial onset UniProtKB:O75923 biolink:Protein Orphanet:178389 biolink:Disease Osteopetrosis-hypogammaglobulinemia syndrome UniProtKB:Q9Y6Q6 biolink:Protein Orphanet:62 biolink:Disease Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 UniProtKB:Q16586 biolink:Protein Orphanet:178364 biolink:Disease Syndromic microphthalmia type 5 UniProtKB:P32243 biolink:Protein Orphanet:715 biolink:Disease Glycogen storage disease due to muscle phosphorylase kinase deficiency UniProtKB:P46020 biolink:Protein UniProtKB:Q16816 biolink:Protein Orphanet:178377 biolink:Disease Osteosclerosis-developmental delay-craniosynostosis syndrome UniProtKB:O75197 biolink:Protein Orphanet:348 biolink:Disease Fructose-1,6-bisphosphatase deficiency UniProtKB:P09467 biolink:Protein Orphanet:178345 biolink:Disease Aromatase excess syndrome UniProtKB:P11511 biolink:Protein Orphanet:178355 biolink:Disease Smith-McCort dysplasia UniProtKB:Q7RTS9 biolink:Protein UniProtKB:Q9H082 biolink:Protein Orphanet:178338 biolink:Disease UV-sensitive syndrome UniProtKB:Q03468 biolink:Protein UniProtKB:Q13216 biolink:Protein UniProtKB:Q2YD98 biolink:Protein Orphanet:3435 biolink:Disease NON RARE IN EUROPE: Vitiligo UniProtKB:Q9C000 biolink:Protein UniProtKB:Q9UJU5 biolink:Protein Orphanet:178342 biolink:Disease Inflammatory myofibroblastic tumor UniProtKB:P06753 biolink:Protein UniProtKB:Q9UM73 biolink:Protein UniProtKB:P49792 biolink:Protein UniProtKB:Q00610 biolink:Protein UniProtKB:P49589 biolink:Protein UniProtKB:P67936 biolink:Protein Orphanet:117 biolink:Disease Behçet disease UniProtKB:P22301 biolink:Protein UniProtKB:P01889 biolink:Protein UniProtKB:P25445 biolink:Protein UniProtKB:Q8NBM4 biolink:Protein UniProtKB:Q5VWK5 biolink:Protein UniProtKB:O15553 biolink:Protein UniProtKB:Q14765 biolink:Protein UniProtKB:P0C0L4 biolink:Protein UniProtKB:P29459 biolink:Protein UniProtKB:O00206 biolink:Protein UniProtKB:P32246 biolink:Protein UniProtKB:O43908 biolink:Protein UniProtKB:Q9NZ08 biolink:Protein UniProtKB:P15260 biolink:Protein Orphanet:178509 biolink:Disease Perry syndrome UniProtKB:Q14203 biolink:Protein Orphanet:178506 biolink:Disease Brain calcification, Rajab type UniProtKB:Q9NSD9 biolink:Protein Orphanet:177926 biolink:Disease Bleeding disorder in hemophilia A carriers UniProtKB:P00451 biolink:Protein Orphanet:177929 biolink:Disease Bleeding disorder in hemophilia B carriers UniProtKB:P00740 biolink:Protein Orphanet:177901 biolink:Disease Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 UniProtKB:P63162 biolink:Protein UniProtKB:Q9UJ55 biolink:Protein UniProtKB:Q99608 biolink:Protein UniProtKB:Q04671 biolink:Protein Orphanet:423 biolink:Disease Malignant hyperthermia of anesthesia UniProtKB:Q13698 biolink:Protein UniProtKB:P21817 biolink:Protein Orphanet:177904 biolink:Disease Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 UniProtKB:P63162 biolink:Protein UniProtKB:Q9UJ55 biolink:Protein UniProtKB:Q99608 biolink:Protein UniProtKB:Q04671 biolink:Protein Orphanet:177907 biolink:Disease Prader-Willi syndrome due to translocation UniProtKB:P63162 biolink:Protein Orphanet:177910 biolink:Disease Prader-Willi syndrome due to imprinting mutation UniProtKB:P63162 biolink:Protein UniProtKB:Q9UJ55 biolink:Protein UniProtKB:Q99608 biolink:Protein Orphanet:388 biolink:Disease Hirschsprung disease UniProtKB:Q04656 biolink:Protein UniProtKB:P33897 biolink:Protein UniProtKB:P04626 biolink:Protein UniProtKB:P21860 biolink:Protein UniProtKB:Q99835 biolink:Protein UniProtKB:P07949 biolink:Protein UniProtKB:P42892 biolink:Protein UniProtKB:P14138 biolink:Protein UniProtKB:P24530 biolink:Protein UniProtKB:P39905 biolink:Protein UniProtKB:Q99748 biolink:Protein UniProtKB:Q99985 biolink:Protein UniProtKB:O95025 biolink:Protein UniProtKB:P36956 biolink:Protein Orphanet:178333 biolink:Disease Åland Islands eye disease UniProtKB:O60840 biolink:Protein Orphanet:362 biolink:Disease NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency UniProtKB:P11413 biolink:Protein Orphanet:760 biolink:Disease Purine nucleoside phosphorylase deficiency UniProtKB:P00491 biolink:Protein Orphanet:270 biolink:Disease Oculopharyngeal muscular dystrophy UniProtKB:Q86U42 biolink:Protein Orphanet:244 biolink:Disease Primary ciliary dyskinesia UniProtKB:Q9P2D7 biolink:Protein UniProtKB:Q9H892 biolink:Protein UniProtKB:Q6ZWH5 biolink:Protein UniProtKB:Q9NQM4 biolink:Protein UniProtKB:Q4G0U5 biolink:Protein UniProtKB:Q9C093 biolink:Protein UniProtKB:P59910 biolink:Protein UniProtKB:Q96NG3 biolink:Protein UniProtKB:D6RGH6 biolink:Protein UniProtKB:Q8NHY3 biolink:Protein UniProtKB:O75665 biolink:Protein UniProtKB:Q96DT5 biolink:Protein UniProtKB:Q8TE73 biolink:Protein UniProtKB:Q9UI46 biolink:Protein UniProtKB:Q8N427 biolink:Protein UniProtKB:Q9GZS0 biolink:Protein UniProtKB:Q9NVR5 biolink:Protein UniProtKB:Q9H1X1 biolink:Protein UniProtKB:Q5TD94 biolink:Protein UniProtKB:Q8NEP3 biolink:Protein UniProtKB:Q9UFE4 biolink:Protein UniProtKB:Q4G0X9 biolink:Protein UniProtKB:Q4LDG9 biolink:Protein UniProtKB:Q8N9W5 biolink:Protein UniProtKB:Q8IW40 biolink:Protein UniProtKB:Q86Y56 biolink:Protein UniProtKB:Q4G0P3 biolink:Protein UniProtKB:Q86X45 biolink:Protein UniProtKB:Q96M63 biolink:Protein UniProtKB:Q96MC2 biolink:Protein UniProtKB:Q5T2S8 biolink:Protein UniProtKB:Q8WXU2 biolink:Protein UniProtKB:Q8WYR4 biolink:Protein UniProtKB:O75800 biolink:Protein UniProtKB:P57076 biolink:Protein UniProtKB:Q8IXS2 biolink:Protein UniProtKB:Q07617 biolink:Protein UniProtKB:P22674 biolink:Protein UniProtKB:A5D8V7 biolink:Protein UniProtKB:Q86UC2 biolink:Protein UniProtKB:O95995 biolink:Protein UniProtKB:Q92834 biolink:Protein UniProtKB:Q9NRP7 biolink:Protein UniProtKB:Q92949 biolink:Protein UniProtKB:Q9NYC9 biolink:Protein UniProtKB:Q8IYG6 biolink:Protein UniProtKB:Q9BRQ4 biolink:Protein Orphanet:178307 biolink:Disease Reticulate acropigmentation of Kitamura UniProtKB:O14672 biolink:Protein Orphanet:805 biolink:Disease Tuberous sclerosis complex UniProtKB:P01579 biolink:Protein UniProtKB:Q92574 biolink:Protein UniProtKB:P49815 biolink:Protein Orphanet:178145 biolink:Disease Moderate multiminicore disease with hand involvement UniProtKB:P21817 biolink:Protein Orphanet:791 biolink:Disease Retinitis pigmentosa UniProtKB:Q9BY12 biolink:Protein UniProtKB:Q13099 biolink:Protein UniProtKB:Q96HR9 biolink:Protein UniProtKB:Q6ZSZ5 biolink:Protein UniProtKB:Q8NFJ9 biolink:Protein UniProtKB:Q9HCM3 biolink:Protein UniProtKB:Q8N157 biolink:Protein UniProtKB:Q8NDL9 biolink:Protein UniProtKB:P78363 biolink:Protein UniProtKB:Q00LT1 biolink:Protein UniProtKB:O43395 biolink:Protein UniProtKB:Q8WWY3 biolink:Protein UniProtKB:Q6P2Q9 biolink:Protein UniProtKB:P23942 biolink:Protein UniProtKB:Q96NR8 biolink:Protein UniProtKB:P47804 biolink:Protein UniProtKB:P08100 biolink:Protein UniProtKB:P12271 biolink:Protein UniProtKB:Q03395 biolink:Protein UniProtKB:P56715 biolink:Protein UniProtKB:O75695 biolink:Protein UniProtKB:Q8TA86 biolink:Protein UniProtKB:Q16518 biolink:Protein UniProtKB:Q92834 biolink:Protein UniProtKB:P10523 biolink:Protein UniProtKB:Q9BXC9 biolink:Protein UniProtKB:O76090 biolink:Protein UniProtKB:P22748 biolink:Protein UniProtKB:Q49MI3 biolink:Protein UniProtKB:Q8TAM2 biolink:Protein UniProtKB:O00294 biolink:Protein UniProtKB:O75445 biolink:Protein UniProtKB:P58418 biolink:Protein UniProtKB:P29973 biolink:Protein UniProtKB:P82279 biolink:Protein UniProtKB:O43186 biolink:Protein UniProtKB:Q9H0F7 biolink:Protein UniProtKB:O14926 biolink:Protein UniProtKB:Q68CP4 biolink:Protein UniProtKB:P20839 biolink:Protein UniProtKB:Q12866 biolink:Protein UniProtKB:Q9Y5X4 biolink:Protein UniProtKB:P54845 biolink:Protein UniProtKB:O75665 biolink:Protein UniProtKB:P16499 biolink:Protein UniProtKB:P35913 biolink:Protein UniProtKB:Q9H3S1 biolink:Protein UniProtKB:Q14028 biolink:Protein UniProtKB:Q9NS56 biolink:Protein UniProtKB:O43490 biolink:Protein UniProtKB:O95237 biolink:Protein UniProtKB:Q5T1H1 biolink:Protein UniProtKB:O43837 biolink:Protein UniProtKB:Q9P0W8 biolink:Protein UniProtKB:Q9UMX6 biolink:Protein UniProtKB:Q8IXQ5 biolink:Protein UniProtKB:O75643 biolink:Protein UniProtKB:A6NGG8 biolink:Protein UniProtKB:P18545 biolink:Protein UniProtKB:Q9BZV3 biolink:Protein UniProtKB:Q3B820 biolink:Protein UniProtKB:Q8N8E2 biolink:Protein UniProtKB:Q96JP9 biolink:Protein UniProtKB:Q86SQ9 biolink:Protein UniProtKB:O94906 biolink:Protein UniProtKB:P20794 biolink:Protein UniProtKB:P10745 biolink:Protein UniProtKB:Q96NL8 biolink:Protein UniProtKB:Q96RY7 biolink:Protein UniProtKB:Q9H9D4 biolink:Protein UniProtKB:Q9Y2Y0 biolink:Protein UniProtKB:P51955 biolink:Protein UniProtKB:Q9UG01 biolink:Protein UniProtKB:P50607 biolink:Protein UniProtKB:Q2M2Z5 biolink:Protein UniProtKB:Q8TBB6 biolink:Protein UniProtKB:O43172 biolink:Protein UniProtKB:Q8IWN7 biolink:Protein UniProtKB:P35869 biolink:Protein UniProtKB:Q17R60 biolink:Protein UniProtKB:P50213 biolink:Protein UniProtKB:Q92620 biolink:Protein UniProtKB:P36405 biolink:Protein UniProtKB:Q8WZA1 biolink:Protein Orphanet:2131 biolink:Disease Alternating hemiplegia of childhood UniProtKB:O00555 biolink:Protein UniProtKB:P50993 biolink:Protein UniProtKB:P13637 biolink:Protein UniProtKB:P43003 biolink:Protein Orphanet:713 biolink:Disease Glycogen storage disease due to phosphoglycerate kinase 1 deficiency UniProtKB:P00558 biolink:Protein Orphanet:57 biolink:Disease Glycogen storage disease due to aldolase A deficiency UniProtKB:P04075 biolink:Protein Orphanet:2334 biolink:Disease Autosomal dominant keratitis UniProtKB:P26367 biolink:Protein Orphanet:46 biolink:Disease Adenylosuccinate lyase deficiency UniProtKB:P30566 biolink:Protein Orphanet:3166 biolink:Disease Sialuria UniProtKB:Q9Y223 biolink:Protein Orphanet:2882 biolink:Disease Sitosterolemia UniProtKB:Q9H222 biolink:Protein UniProtKB:Q9H221 biolink:Protein Orphanet:900 biolink:Disease Granulomatosis with polyangiitis UniProtKB:P20036 biolink:Protein UniProtKB:P04440 biolink:Protein UniProtKB:P16410 biolink:Protein UniProtKB:Q9Y2R2 biolink:Protein UniProtKB:P24158 biolink:Protein Orphanet:171695 biolink:Disease Parkinsonian-pyramidal syndrome UniProtKB:P37840 biolink:Protein UniProtKB:Q9Y3I1 biolink:Protein Orphanet:134 biolink:Disease Beta-ketothiolase deficiency UniProtKB:P24752 biolink:Protein Orphanet:171700 biolink:Disease Diffuse panbronchiolitis UniProtKB:Q3MIW9 biolink:Protein UniProtKB:Q9HC84 biolink:Protein Orphanet:171703 biolink:Disease Microcephaly-polymicrogyria-corpus callosum agenesis syndrome UniProtKB:Q9NRI5 biolink:Protein UniProtKB:O95936 biolink:Protein Orphanet:171706 biolink:Disease Short stature-delayed bone age due to thyroid hormone metabolism deficiency UniProtKB:Q96T21 biolink:Protein Orphanet:171709 biolink:Disease Male infertility due to globozoospermia UniProtKB:Q9HD26 biolink:Protein UniProtKB:Q9BXB7 biolink:Protein UniProtKB:Q6NUT2 biolink:Protein UniProtKB:Q9NRD5 biolink:Protein Orphanet:171723 biolink:Disease White sponge nevus UniProtKB:P19013 biolink:Protein UniProtKB:P13646 biolink:Protein Orphanet:171680 biolink:Disease Lissencephaly due to TUBA1A mutation UniProtKB:Q71U36 biolink:Protein Orphanet:171690 biolink:Disease Metabolic myopathy due to lactate transporter defect UniProtKB:P53985 biolink:Protein Orphanet:171863 biolink:Disease Autosomal dominant spastic paraplegia type 42 UniProtKB:O00400 biolink:Protein Orphanet:171871 biolink:Disease Renal pseudohypoaldosteronism type 1 UniProtKB:P08235 biolink:Protein Orphanet:171866 biolink:Disease Spondyloepimetaphyseal dysplasia, aggrecan type UniProtKB:P16112 biolink:Protein Orphanet:171881 biolink:Disease Cap myopathy UniProtKB:Q86TC9 biolink:Protein UniProtKB:P07951 biolink:Protein UniProtKB:P06753 biolink:Protein Orphanet:2512 biolink:Disease Autosomal recessive primary microcephaly UniProtKB:O14578 biolink:Protein UniProtKB:P42695 biolink:Protein UniProtKB:P35606 biolink:Protein UniProtKB:P48553 biolink:Protein UniProtKB:P33993 biolink:Protein UniProtKB:Q9NRN9 biolink:Protein UniProtKB:Q8WVR3 biolink:Protein UniProtKB:Q15058 biolink:Protein UniProtKB:Q15543 biolink:Protein UniProtKB:Q96C36 biolink:Protein UniProtKB:Q96SN8 biolink:Protein UniProtKB:Q9HC77 biolink:Protein UniProtKB:Q8IZT6 biolink:Protein UniProtKB:Q8NEM0 biolink:Protein UniProtKB:Q15468 biolink:Protein UniProtKB:O43379 biolink:Protein UniProtKB:O94986 biolink:Protein UniProtKB:Q96MT8 biolink:Protein UniProtKB:Q66GS9 biolink:Protein UniProtKB:Q8NG31 biolink:Protein UniProtKB:P78364 biolink:Protein UniProtKB:Q00534 biolink:Protein UniProtKB:Q6UVJ0 biolink:Protein UniProtKB:Q8NA29 biolink:Protein UniProtKB:Q86XL3 biolink:Protein Orphanet:171876 biolink:Disease Generalized pseudohypoaldosteronism type 1 UniProtKB:P37088 biolink:Protein UniProtKB:P51168 biolink:Protein UniProtKB:P51170 biolink:Protein Orphanet:797 biolink:Disease Sarcoidosis UniProtKB:Q9UIR0 biolink:Protein UniProtKB:P01911 biolink:Protein Orphanet:171829 biolink:Disease 6q16 microdeletion syndrome UniProtKB:P81133 biolink:Protein Orphanet:171851 biolink:Disease MEDNIK syndrome UniProtKB:Q10567 biolink:Protein UniProtKB:P61966 biolink:Protein Orphanet:171848 biolink:Disease Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome UniProtKB:Q8N2K0 biolink:Protein Orphanet:3303 biolink:Disease Tetralogy of Fallot UniProtKB:P35968 biolink:Protein UniProtKB:Q8WW38 biolink:Protein UniProtKB:P43694 biolink:Protein UniProtKB:P78504 biolink:Protein UniProtKB:P52952 biolink:Protein UniProtKB:Q9BWX5 biolink:Protein UniProtKB:P36382 biolink:Protein UniProtKB:A6NCS4 biolink:Protein UniProtKB:P27539 biolink:Protein UniProtKB:Q99967 biolink:Protein UniProtKB:Q92908 biolink:Protein UniProtKB:P35916 biolink:Protein UniProtKB:O43435 biolink:Protein Orphanet:200418 biolink:Disease Immunodeficiency with factor I anomaly UniProtKB:P05156 biolink:Protein Orphanet:730 biolink:Disease Autosomal dominant polycystic kidney disease UniProtKB:Q14697 biolink:Protein UniProtKB:Q9H6U8 biolink:Protein UniProtKB:Q9UBS4 biolink:Protein UniProtKB:Q9Y673 biolink:Protein UniProtKB:P98161 biolink:Protein UniProtKB:Q13563 biolink:Protein UniProtKB:Q9H694 biolink:Protein UniProtKB:Q96RY7 biolink:Protein Orphanet:200421 biolink:Disease Immunodeficiency with factor H anomaly UniProtKB:P08603 biolink:Protein Orphanet:486 biolink:Disease Autosomal dominant severe congenital neutropenia UniProtKB:Q13488 biolink:Protein UniProtKB:P08246 biolink:Protein UniProtKB:Q99684 biolink:Protein UniProtKB:Q9H078 biolink:Protein UniProtKB:P61011 biolink:Protein Orphanet:98 biolink:Disease Autosomal recessive spastic ataxia of Charlevoix-Saguenay UniProtKB:Q9NZJ4 biolink:Protein Orphanet:1480 biolink:Disease NON RARE IN EUROPE: Ventricular septal defect UniProtKB:Q99967 biolink:Protein UniProtKB:Q9BWX5 biolink:Protein UniProtKB:P43694 biolink:Protein UniProtKB:P52952 biolink:Protein UniProtKB:A6NCS4 biolink:Protein Orphanet:330 biolink:Disease Congenital factor XII deficiency UniProtKB:P00748 biolink:Protein Orphanet:199340 biolink:Disease Muscular dystrophy, Selcen type UniProtKB:O95817 biolink:Protein Orphanet:199337 biolink:Disease Pancreatic insufficiency-anemia-hyperostosis syndrome UniProtKB:Q96KJ9 biolink:Protein Orphanet:234 biolink:Disease Dubin-Johnson syndrome UniProtKB:Q92887 biolink:Protein Orphanet:199348 biolink:Disease Thiamine-responsive encephalopathy UniProtKB:Q9BZV2 biolink:Protein Orphanet:3287 biolink:Disease Takayasu arteritis UniProtKB:P01889 biolink:Protein UniProtKB:P29460 biolink:Protein UniProtKB:Q9UH92 biolink:Protein Orphanet:199343 biolink:Disease EAST syndrome UniProtKB:P78508 biolink:Protein Orphanet:199326 biolink:Disease Isolated autosomal dominant hypomagnesemia, Glaudemans type UniProtKB:Q09470 biolink:Protein Orphanet:199332 biolink:Disease Endocrine-cerebro-osteodysplasia syndrome UniProtKB:Q9UPZ9 biolink:Protein Orphanet:199329 biolink:Disease Congenital myopathy, Paradas type UniProtKB:O75923 biolink:Protein Orphanet:2665 biolink:Disease Congenital mesoblastic nephroma UniProtKB:P41212 biolink:Protein UniProtKB:Q16288 biolink:Protein Orphanet:3463 biolink:Disease Wolfram syndrome UniProtKB:O76024 biolink:Protein UniProtKB:Q8N5K1 biolink:Protein Orphanet:199354 biolink:Disease Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy UniProtKB:Q92743 biolink:Protein Orphanet:199351 biolink:Disease Adult-onset dystonia-parkinsonism UniProtKB:O60733 biolink:Protein Orphanet:356 biolink:Disease Gerstmann-Straussler-Scheinker syndrome UniProtKB:P04156 biolink:Protein Orphanet:466 biolink:Disease Fatal familial insomnia UniProtKB:P04156 biolink:Protein Orphanet:3452 biolink:Disease Whipple disease UniProtKB:Q15306 biolink:Protein Orphanet:199285 biolink:Disease Hereditary hypercarotenemia and vitamin A deficiency UniProtKB:Q9HAY6 biolink:Protein Orphanet:2102 biolink:Disease GTP cyclohydrolase I deficiency UniProtKB:P30793 biolink:Protein Orphanet:3002 biolink:Disease Immune thrombocytopenia UniProtKB:P31995 biolink:Protein Orphanet:199318 biolink:Disease 15q13.3 microdeletion syndrome UniProtKB:P36544 biolink:Protein Orphanet:274 biolink:Disease Bernard-Soulier syndrome UniProtKB:P07359 biolink:Protein UniProtKB:P13224 biolink:Protein UniProtKB:P14770 biolink:Protein Orphanet:1195 biolink:Disease Congenital atransferrinemia UniProtKB:P02787 biolink:Protein Orphanet:199302 biolink:Disease Isolated cleft lip UniProtKB:Q9H3D4 biolink:Protein UniProtKB:O14896 biolink:Protein UniProtKB:Q15223 biolink:Protein UniProtKB:P28360 biolink:Protein Orphanet:199306 biolink:Disease Cleft lip/palate UniProtKB:Q52LW3 biolink:Protein UniProtKB:Q9H3D4 biolink:Protein UniProtKB:P12644 biolink:Protein UniProtKB:Q15223 biolink:Protein UniProtKB:P12830 biolink:Protein UniProtKB:O14896 biolink:Protein UniProtKB:P16234 biolink:Protein UniProtKB:P28360 biolink:Protein UniProtKB:Q12959 biolink:Protein UniProtKB:Q92988 biolink:Protein Orphanet:926 biolink:Disease Acatalasemia UniProtKB:P04040 biolink:Protein Orphanet:199296 biolink:Disease Congenital isolated ACTH deficiency UniProtKB:O60806 biolink:Protein Orphanet:1675 biolink:Disease Dihydropyrimidine dehydrogenase deficiency UniProtKB:Q12882 biolink:Protein Orphanet:189427 biolink:Disease Cushing syndrome due to macronodular adrenal hyperplasia UniProtKB:P63092 biolink:Protein UniProtKB:Q96C12 biolink:Protein Orphanet:976 biolink:Disease Adenine phosphoribosyltransferase deficiency UniProtKB:P07741 biolink:Protein Orphanet:3129 biolink:Disease Sarcosinemia UniProtKB:Q9UL12 biolink:Protein Orphanet:415 biolink:Disease Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome UniProtKB:Q9Y619 biolink:Protein Orphanet:13 biolink:Disease 6-pyruvoyl-tetrahydropterin synthase deficiency UniProtKB:Q03393 biolink:Protein Orphanet:171 biolink:Disease Primary sclerosing cholangitis UniProtKB:Q92854 biolink:Protein UniProtKB:Q9HC97 biolink:Protein UniProtKB:P26927 biolink:Protein UniProtKB:P15884 biolink:Protein Orphanet:199247 biolink:Disease Corticosteroid-binding globulin deficiency UniProtKB:P08185 biolink:Protein Orphanet:199241 biolink:Disease Pulmonary capillary hemangiomatosis UniProtKB:Q9P2K8 biolink:Protein Orphanet:189466 biolink:Disease Familial isolated hypoparathyroidism due to impaired PTH secretion UniProtKB:P01270 biolink:Protein UniProtKB:O43918 biolink:Protein Orphanet:17 biolink:Disease Fatal infantile lactic acidosis with methylmalonic aciduria UniProtKB:P53597 biolink:Protein Orphanet:189439 biolink:Disease Primary pigmented nodular adrenocortical disease UniProtKB:P17612 biolink:Protein UniProtKB:P10644 biolink:Protein UniProtKB:Q9HCR9 biolink:Protein UniProtKB:O95263 biolink:Protein Orphanet:3006 biolink:Disease Pyridoxine-dependent epilepsy UniProtKB:P49419 biolink:Protein UniProtKB:O94903 biolink:Protein Orphanet:3111 biolink:Disease Rotor syndrome UniProtKB:Q9Y6L6 biolink:Protein UniProtKB:Q9NPD5 biolink:Protein Orphanet:2382 biolink:Disease Lennox-Gastaut syndrome UniProtKB:O14529 biolink:Protein UniProtKB:P35498 biolink:Protein UniProtKB:P53779 biolink:Protein UniProtKB:O14647 biolink:Protein UniProtKB:Q05193 biolink:Protein UniProtKB:P28472 biolink:Protein UniProtKB:O00555 biolink:Protein UniProtKB:O00555 biolink:Protein Orphanet:1934 biolink:Disease Early infantile epileptic encephalopathy UniProtKB:Q8TDJ6 biolink:Protein UniProtKB:Q05586 biolink:Protein UniProtKB:Q15784 biolink:Protein UniProtKB:Q14831 biolink:Protein UniProtKB:Q99250 biolink:Protein UniProtKB:O76039 biolink:Protein UniProtKB:Q96QS3 biolink:Protein UniProtKB:O14936 biolink:Protein UniProtKB:Q96T60 biolink:Protein UniProtKB:P09471 biolink:Protein UniProtKB:Q9BRB3 biolink:Protein UniProtKB:P57059 biolink:Protein UniProtKB:Q07699 biolink:Protein UniProtKB:Q9H936 biolink:Protein UniProtKB:Q09470 biolink:Protein UniProtKB:Q9BZR9 biolink:Protein UniProtKB:P57054 biolink:Protein Orphanet:1942 biolink:Disease Myoclonic-astatic epilepsy UniProtKB:P11166 biolink:Protein UniProtKB:Q96PV0 biolink:Protein UniProtKB:Q5QGS0 biolink:Protein UniProtKB:P35498 biolink:Protein UniProtKB:O14647 biolink:Protein UniProtKB:P30531 biolink:Protein UniProtKB:Q96CW1 biolink:Protein Orphanet:1935 biolink:Disease Early myoclonic encephalopathy UniProtKB:Q9H936 biolink:Protein UniProtKB:P57059 biolink:Protein Orphanet:3451 biolink:Disease Infantile spasms syndrome UniProtKB:Q16620 biolink:Protein UniProtKB:Q9Y484 biolink:Protein UniProtKB:Q99250 biolink:Protein UniProtKB:O76039 biolink:Protein UniProtKB:Q96QS3 biolink:Protein UniProtKB:P37287 biolink:Protein UniProtKB:Q13813 biolink:Protein UniProtKB:Q9NQ66 biolink:Protein UniProtKB:Q13224 biolink:Protein UniProtKB:Q11203 biolink:Protein UniProtKB:P57059 biolink:Protein UniProtKB:Q9C0D0 biolink:Protein UniProtKB:Q8N442 biolink:Protein UniProtKB:Q9BT09 biolink:Protein Orphanet:267 biolink:Disease Calpain-3-related limb-girdle muscular dystrophy R1 UniProtKB:P20807 biolink:Protein Orphanet:186 biolink:Disease Primary biliary cholangitis UniProtKB:P42701 biolink:Protein UniProtKB:Q01892 biolink:Protein UniProtKB:P29459 biolink:Protein UniProtKB:Q13568 biolink:Protein UniProtKB:Q9Y5L0 biolink:Protein UniProtKB:Q495T6 biolink:Protein UniProtKB:Q16633 biolink:Protein UniProtKB:O95150 biolink:Protein Orphanet:1136 biolink:Disease Arnold-Chiari malformation type II UniProtKB:Q9BT04 biolink:Protein Orphanet:397 biolink:Disease Giant cell arteritis UniProtKB:Q9Y2R2 biolink:Protein UniProtKB:P01911 biolink:Protein UniProtKB:P01889 biolink:Protein UniProtKB:O15460 biolink:Protein Orphanet:2398 biolink:Disease Multiple symmetric lipomatosis UniProtKB:O95140 biolink:Protein Orphanet:131 biolink:Disease Budd-Chiari syndrome UniProtKB:P12259 biolink:Protein UniProtKB:O60674 biolink:Protein UniProtKB:P27797 biolink:Protein Orphanet:654 biolink:Disease Nephroblastoma UniProtKB:P51587 biolink:Protein UniProtKB:P51654 biolink:Protein UniProtKB:Q13263 biolink:Protein UniProtKB:Q13263 biolink:Protein UniProtKB:Q13127 biolink:Protein UniProtKB:Q15645 biolink:Protein UniProtKB:P78424 biolink:Protein UniProtKB:P19544 biolink:Protein UniProtKB:P19544 biolink:Protein UniProtKB:Q8IYB7 biolink:Protein Orphanet:2587 biolink:Disease Myeloperoxidase deficiency UniProtKB:P05164 biolink:Protein Orphanet:3389 biolink:Disease Tuberculosis UniProtKB:P49279 biolink:Protein Orphanet:2897 biolink:Disease Pityriasis rubra pilaris UniProtKB:Q9BXL6 biolink:Protein Orphanet:2312 biolink:Disease Transient familial neonatal hyperbilirubinemia UniProtKB:P22309 biolink:Protein Orphanet:183707 biolink:Disease Neutrophil immunodeficiency syndrome UniProtKB:P15153 biolink:Protein Orphanet:2314 biolink:Disease Autosomal dominant hyper-IgE syndrome UniProtKB:P40763 biolink:Protein Orphanet:183678 biolink:Disease Hermansky-Pudlak syndrome due to AP-3 deficiency UniProtKB:O00203 biolink:Protein Orphanet:183675 biolink:Disease Recurrent infections associated with rare immunoglobulin isotypes deficiency UniProtKB:P01859 biolink:Protein UniProtKB:P01834 biolink:Protein Orphanet:2177 biolink:Disease Hydranencephaly UniProtKB:Q9NXR1 biolink:Protein Orphanet:183713 biolink:Disease Bacterial susceptibility due to TLR signaling pathway deficiency UniProtKB:Q99836 biolink:Protein Orphanet:2380 biolink:Disease Legg-Calvé-Perthes disease UniProtKB:P02458 biolink:Protein Orphanet:897 biolink:Disease Waardenburg-Shah syndrome UniProtKB:P56693 biolink:Protein UniProtKB:P14138 biolink:Protein UniProtKB:P24530 biolink:Protein UniProtKB:O75030 biolink:Protein Orphanet:808 biolink:Disease Seckel syndrome UniProtKB:Q9BW27 biolink:Protein UniProtKB:Q13535 biolink:Protein UniProtKB:Q9HC77 biolink:Protein UniProtKB:O95613 biolink:Protein UniProtKB:O94986 biolink:Protein UniProtKB:Q99708 biolink:Protein UniProtKB:Q8WXE1 biolink:Protein UniProtKB:Q9BWF2 biolink:Protein UniProtKB:O00444 biolink:Protein UniProtKB:Q02224 biolink:Protein Orphanet:3027 biolink:Disease Caudal regression syndrome UniProtKB:Q8TAA9 biolink:Protein UniProtKB:Q9BT04 biolink:Protein Orphanet:676 biolink:Disease Hereditary chronic pancreatitis UniProtKB:P41180 biolink:Protein UniProtKB:P07477 biolink:Protein UniProtKB:P13569 biolink:Protein UniProtKB:P00995 biolink:Protein UniProtKB:P07478 biolink:Protein UniProtKB:Q99895 biolink:Protein UniProtKB:P15085 biolink:Protein Orphanet:643 biolink:Disease Giant axonal neuropathy UniProtKB:Q9H2C0 biolink:Protein Orphanet:634 biolink:Disease Netherton syndrome UniProtKB:Q9NQ38 biolink:Protein Orphanet:140 biolink:Disease Campomelic dysplasia UniProtKB:P48436 biolink:Protein Orphanet:2828 biolink:Disease Young-onset Parkinson disease UniProtKB:O43426 biolink:Protein UniProtKB:P37840 biolink:Protein UniProtKB:Q9BXM7 biolink:Protein UniProtKB:P09936 biolink:Protein UniProtKB:O43464 biolink:Protein UniProtKB:O00592 biolink:Protein UniProtKB:Q5S007 biolink:Protein UniProtKB:O60260 biolink:Protein UniProtKB:Q99497 biolink:Protein UniProtKB:Q709C8 biolink:Protein UniProtKB:O75061 biolink:Protein Orphanet:642 biolink:Disease Hereditary sensory and autonomic neuropathy type 4 UniProtKB:P04629 biolink:Protein Orphanet:627 biolink:Disease Nance-Horan syndrome UniProtKB:Q6T4R5 biolink:Protein Orphanet:638 biolink:Disease Neurofibromatosis-Noonan syndrome UniProtKB:P36507 biolink:Protein UniProtKB:P21359 biolink:Protein Orphanet:326 biolink:Disease Congenital factor V deficiency UniProtKB:P12259 biolink:Protein Orphanet:526 biolink:Disease Liddle syndrome UniProtKB:P51168 biolink:Protein UniProtKB:P51170 biolink:Protein UniProtKB:P37088 biolink:Protein Orphanet:215 biolink:Disease Congenital stationary night blindness UniProtKB:P08100 biolink:Protein UniProtKB:P10523 biolink:Protein UniProtKB:P57796 biolink:Protein UniProtKB:O60840 biolink:Protein UniProtKB:P11488 biolink:Protein UniProtKB:O15303 biolink:Protein UniProtKB:Q9GZU5 biolink:Protein UniProtKB:P35913 biolink:Protein UniProtKB:Q7Z3S7 biolink:Protein UniProtKB:Q7Z4N2 biolink:Protein UniProtKB:O60721 biolink:Protein UniProtKB:Q6PRD1 biolink:Protein UniProtKB:Q3SXY7 biolink:Protein UniProtKB:Q15835 biolink:Protein UniProtKB:P16520 biolink:Protein Orphanet:342 biolink:Disease Familial Mediterranean fever UniProtKB:O15553 biolink:Protein Orphanet:180 biolink:Disease Choroideremia UniProtKB:P24386 biolink:Protein Orphanet:327 biolink:Disease Congenital factor VII deficiency UniProtKB:P08709 biolink:Protein Orphanet:373 biolink:Disease Simpson-Golabi-Behmel syndrome UniProtKB:P51654 biolink:Protein UniProtKB:O75487 biolink:Protein Orphanet:403 biolink:Disease Familial hyperaldosteronism type I UniProtKB:P15538 biolink:Protein UniProtKB:P19099 biolink:Protein Orphanet:146 biolink:Disease Differentiated thyroid carcinoma UniProtKB:P47813 biolink:Protein UniProtKB:P37231 biolink:Protein UniProtKB:P07949 biolink:Protein UniProtKB:P15056 biolink:Protein UniProtKB:Q16204 biolink:Protein UniProtKB:Q92734 biolink:Protein UniProtKB:P12270 biolink:Protein UniProtKB:O15164 biolink:Protein UniProtKB:P14373 biolink:Protein UniProtKB:Q9UPN9 biolink:Protein UniProtKB:Q8IUD2 biolink:Protein UniProtKB:O00358 biolink:Protein UniProtKB:Q8TBA6 biolink:Protein UniProtKB:P01112 biolink:Protein UniProtKB:P01116 biolink:Protein UniProtKB:P04629 biolink:Protein UniProtKB:Q06710 biolink:Protein UniProtKB:Q15154 biolink:Protein UniProtKB:P41212 biolink:Protein UniProtKB:P43699 biolink:Protein UniProtKB:Q9UM73 biolink:Protein UniProtKB:P01111 biolink:Protein UniProtKB:Q16288 biolink:Protein UniProtKB:Q13772 biolink:Protein UniProtKB:C9JPN6 biolink:Protein UniProtKB:Q9P0J0 biolink:Protein UniProtKB:O14746 biolink:Protein UniProtKB:O95177 biolink:Protein UniProtKB:Q99677 biolink:Protein Orphanet:1331 biolink:Disease Familial prostate cancer UniProtKB:P12830 biolink:Protein UniProtKB:P08118 biolink:Protein UniProtKB:O75771 biolink:Protein UniProtKB:Q13315 biolink:Protein UniProtKB:P31213 biolink:Protein UniProtKB:Q05823 biolink:Protein UniProtKB:P38398 biolink:Protein UniProtKB:P51587 biolink:Protein UniProtKB:O96017 biolink:Protein UniProtKB:Q9BQ52 biolink:Protein UniProtKB:P29323 biolink:Protein UniProtKB:O60934 biolink:Protein UniProtKB:P35680 biolink:Protein UniProtKB:Q92826 biolink:Protein UniProtKB:P21757 biolink:Protein Orphanet:847 biolink:Disease Alpha-thalassemia-X-linked intellectual disability syndrome UniProtKB:P46100 biolink:Protein Orphanet:2268 biolink:Disease ICF syndrome UniProtKB:Q9UBC3 biolink:Protein UniProtKB:O43167 biolink:Protein UniProtKB:Q9BWT1 biolink:Protein UniProtKB:Q9NRZ9 biolink:Protein Orphanet:475 biolink:Disease Joubert syndrome UniProtKB:Q8N960 biolink:Protein UniProtKB:Q8WXW3 biolink:Protein UniProtKB:Q9BPU9 biolink:Protein UniProtKB:Q96GX1 biolink:Protein UniProtKB:Q8N157 biolink:Protein UniProtKB:Q5HYA8 biolink:Protein UniProtKB:Q9NXB0 biolink:Protein UniProtKB:Q3SXY8 biolink:Protein UniProtKB:Q9NRR6 biolink:Protein UniProtKB:Q2MV58 biolink:Protein UniProtKB:Q9UPM9 biolink:Protein UniProtKB:Q96Q45 biolink:Protein UniProtKB:Q9BYV8 biolink:Protein UniProtKB:Q9H799 biolink:Protein UniProtKB:Q1MSJ5 biolink:Protein UniProtKB:Q9BVV6 biolink:Protein UniProtKB:O60308 biolink:Protein UniProtKB:O60303 biolink:Protein UniProtKB:Q9UMX1 biolink:Protein UniProtKB:Q7Z3E5 biolink:Protein UniProtKB:Q9Y3M2 biolink:Protein UniProtKB:Q96M11 biolink:Protein UniProtKB:Q9Y4F4 biolink:Protein UniProtKB:A2RU14 biolink:Protein UniProtKB:P36405 biolink:Protein Orphanet:392 biolink:Disease Holt-Oram syndrome UniProtKB:Q99593 biolink:Protein Orphanet:86 biolink:Disease Familial abdominal aortic aneurysm UniProtKB:P02461 biolink:Protein Orphanet:243 biolink:Disease 46,XX gonadal dysgenesis UniProtKB:Q13285 biolink:Protein UniProtKB:P82650 biolink:Protein UniProtKB:P23945 biolink:Protein UniProtKB:O95972 biolink:Protein UniProtKB:Q9P2W1 biolink:Protein UniProtKB:P57740 biolink:Protein UniProtKB:Q01954 biolink:Protein UniProtKB:Q19AV6 biolink:Protein UniProtKB:Q9Y535 biolink:Protein UniProtKB:Q14159 biolink:Protein Orphanet:136 biolink:Disease Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy UniProtKB:Q9UM47 biolink:Protein Orphanet:48 biolink:Disease Congenital bilateral absence of vas deferens UniProtKB:Q8IZP9 biolink:Protein UniProtKB:P13569 biolink:Protein Orphanet:528 biolink:Disease Congenital generalized lipodystrophy UniProtKB:Q6NZI2 biolink:Protein UniProtKB:P37231 biolink:Protein UniProtKB:Q96G97 biolink:Protein UniProtKB:O15120 biolink:Protein UniProtKB:Q03135 biolink:Protein UniProtKB:P01100 biolink:Protein Orphanet:275 biolink:Disease Severe combined immunodeficiency due to DCLRE1C deficiency UniProtKB:Q96SD1 biolink:Protein Orphanet:184 biolink:Disease Cherubism UniProtKB:P78314 biolink:Protein Orphanet:71 biolink:Disease Chylomicron retention disease UniProtKB:Q9Y6B6 biolink:Protein Orphanet:1949 biolink:Disease Benign familial neonatal epilepsy UniProtKB:O43526 biolink:Protein UniProtKB:O43525 biolink:Protein Orphanet:189 biolink:Disease Hidrotic ectodermal dysplasia UniProtKB:O95452 biolink:Protein Orphanet:1473 biolink:Disease Uveal coloboma-cleft lip and palate-intellectual disability UniProtKB:P46937 biolink:Protein Orphanet:1344 biolink:Disease Atrial standstill UniProtKB:Q14524 biolink:Protein UniProtKB:P01160 biolink:Protein Orphanet:182050 biolink:Disease MYH9-related disease UniProtKB:P35579 biolink:Protein Orphanet:3103 biolink:Disease Roberts syndrome UniProtKB:Q56NI9 biolink:Protein Orphanet:709 biolink:Disease Peters plus syndrome UniProtKB:Q6Y288 biolink:Protein Orphanet:776 biolink:Disease Lujan-Fryns syndrome UniProtKB:Q93074 biolink:Protein UniProtKB:Q9Y397 biolink:Protein UniProtKB:Q9BZI7 biolink:Protein Orphanet:907 biolink:Disease NON RARE IN EUROPE: Wolff-Parkinson-White syndrome UniProtKB:Q9UGJ0 biolink:Protein Orphanet:902 biolink:Disease Werner syndrome UniProtKB:Q14191 biolink:Protein Orphanet:888 biolink:Disease Van der Woude syndrome UniProtKB:O14896 biolink:Protein UniProtKB:Q8TE85 biolink:Protein Orphanet:871 biolink:Disease Familial progressive cardiac conduction defect UniProtKB:Q07699 biolink:Protein UniProtKB:Q14524 biolink:Protein UniProtKB:P52952 biolink:Protein UniProtKB:Q8TD43 biolink:Protein Orphanet:1587 biolink:Disease Monosomy 13q14 UniProtKB:P06400 biolink:Protein Orphanet:1627 biolink:Disease Deletion 5q35 UniProtKB:P52952 biolink:Protein UniProtKB:Q96L73 biolink:Protein Orphanet:500 biolink:Disease Noonan syndrome with multiple lentigines UniProtKB:Q06124 biolink:Protein UniProtKB:P15056 biolink:Protein UniProtKB:P04049 biolink:Protein Orphanet:233 biolink:Disease Duane retraction syndrome UniProtKB:P15882 biolink:Protein UniProtKB:Q9Y5Q3 biolink:Protein UniProtKB:Q9UJQ4 biolink:Protein Orphanet:2495 biolink:Disease Meningioma UniProtKB:Q12824 biolink:Protein UniProtKB:P01127 biolink:Protein UniProtKB:Q9UMX1 biolink:Protein UniProtKB:P35240 biolink:Protein UniProtKB:P42336 biolink:Protein UniProtKB:P31749 biolink:Protein UniProtKB:O14746 biolink:Protein UniProtKB:Q92560 biolink:Protein UniProtKB:Q92560 biolink:Protein UniProtKB:Q969G3 biolink:Protein UniProtKB:Q6Q0C0 biolink:Protein UniProtKB:Q99835 biolink:Protein Orphanet:569 biolink:Disease Familial or sporadic hemiplegic migraine UniProtKB:P35498 biolink:Protein UniProtKB:O00555 biolink:Protein UniProtKB:P50993 biolink:Protein UniProtKB:Q7Z6L0 biolink:Protein Orphanet:323 biolink:Disease NON RARE IN EUROPE: FG syndrome phenotypic spectrum UniProtKB:Q6RI45 biolink:Protein UniProtKB:P21333 biolink:Protein UniProtKB:Q9BZI7 biolink:Protein UniProtKB:O14936 biolink:Protein Orphanet:240 biolink:Disease Léri-Weill dyschondrosteosis UniProtKB:O15266 biolink:Protein Orphanet:2311 biolink:Disease Autosomal recessive spondylocostal dysostosis UniProtKB:Q9NYJ7 biolink:Protein UniProtKB:Q0VG99 biolink:Protein UniProtKB:Q8NES3 biolink:Protein UniProtKB:Q9BYE0 biolink:Protein UniProtKB:Q5TAB7 biolink:Protein Orphanet:358 biolink:Disease Gitelman syndrome UniProtKB:P55017 biolink:Protein UniProtKB:P51801 biolink:Protein Orphanet:242 biolink:Disease 46,XY complete gonadal dysgenesis UniProtKB:Q8IY37 biolink:Protein UniProtKB:P19544 biolink:Protein UniProtKB:P48436 biolink:Protein UniProtKB:Q05066 biolink:Protein UniProtKB:O43323 biolink:Protein UniProtKB:Q13285 biolink:Protein UniProtKB:P51843 biolink:Protein UniProtKB:Q14781 biolink:Protein UniProtKB:Q13233 biolink:Protein UniProtKB:Q9Y5R6 biolink:Protein Orphanet:2052 biolink:Disease Fraser syndrome UniProtKB:Q86XX4 biolink:Protein UniProtKB:Q5SZK8 biolink:Protein UniProtKB:Q9Y3R0 biolink:Protein Orphanet:1358 biolink:Disease Carey-Fineman-Ziter syndrome UniProtKB:A0A1B0GTQ4 biolink:Protein UniProtKB:A6NI61 biolink:Protein Orphanet:111 biolink:Disease Barth syndrome UniProtKB:Q16635 biolink:Protein Orphanet:1308 biolink:Disease C syndrome UniProtKB:P40200 biolink:Protein Orphanet:150 biolink:Disease Nasopharyngeal carcinoma UniProtKB:P25963 biolink:Protein Orphanet:133 biolink:Disease Chronic beryllium disease UniProtKB:P04440 biolink:Protein Orphanet:1552 biolink:Disease Currarino syndrome UniProtKB:P50219 biolink:Protein Orphanet:624 biolink:Disease Familial multiple nevi flammei UniProtKB:P50148 biolink:Protein Orphanet:3000 biolink:Disease Familial male-limited precocious puberty UniProtKB:P22888 biolink:Protein Orphanet:920 biolink:Disease Ablepharon macrostomia syndrome UniProtKB:Q8WVJ9 biolink:Protein Orphanet:7 biolink:Disease 3C syndrome UniProtKB:Q12768 biolink:Protein UniProtKB:O60826 biolink:Protein Orphanet:931 biolink:Disease Acheiropodia UniProtKB:Q8WVP7 biolink:Protein Orphanet:869 biolink:Disease Triple A syndrome UniProtKB:Q7Z392 biolink:Protein UniProtKB:Q9NRG9 biolink:Protein UniProtKB:Q96IJ6 biolink:Protein Orphanet:2297 biolink:Disease Insulin-resistance syndrome type A UniProtKB:P06213 biolink:Protein Orphanet:921 biolink:Disease Abruzzo-Erickson syndrome UniProtKB:Q9Y458 biolink:Protein Orphanet:31 biolink:Disease Oxoglutaric aciduria UniProtKB:Q02218 biolink:Protein Orphanet:37 biolink:Disease Acrodermatitis enteropathica UniProtKB:Q6P5W5 biolink:Protein Orphanet:950 biolink:Disease Acrodysostosis UniProtKB:P10644 biolink:Protein UniProtKB:Q08499 biolink:Protein Orphanet:955 biolink:Disease Hajdu-Cheney syndrome UniProtKB:Q04721 biolink:Protein Orphanet:952 biolink:Disease Acrofacial dysostosis, Weyers type UniProtKB:P57679 biolink:Protein UniProtKB:Q86UK5 biolink:Protein Orphanet:1713 biolink:Disease 17p11.2 microduplication syndrome UniProtKB:Q7Z5J4 biolink:Protein Orphanet:1762 biolink:Disease Proximal Xq28 duplication syndrome UniProtKB:P51608 biolink:Protein Orphanet:1878 biolink:Disease TRIM32-related limb-girdle muscular dystrophy R8 UniProtKB:Q13049 biolink:Protein Orphanet:1946 biolink:Disease Amelocerebrohypohidrotic syndrome UniProtKB:Q86YT5 biolink:Protein UniProtKB:Q9GZN7 biolink:Protein Orphanet:2604 biolink:Disease Familial visceral myopathy UniProtKB:P63267 biolink:Protein Orphanet:156 biolink:Disease Carnitine palmitoyl transferase 1A deficiency UniProtKB:P50416 biolink:Protein Orphanet:2598 biolink:Disease Mitochondrial myopathy and sideroblastic anemia UniProtKB:Q9Y606 biolink:Protein UniProtKB:Q9Y2Z4 biolink:Protein Orphanet:1072 biolink:Disease Ankyloblepharon filiforme adnatum-cleft palate syndrome UniProtKB:Q9H3D4 biolink:Protein Orphanet:1053 biolink:Disease Vein of Galen aneurysmal malformation UniProtKB:P54760 biolink:Protein Orphanet:1052 biolink:Disease Mosaic variegated aneuploidy syndrome UniProtKB:Q15645 biolink:Protein UniProtKB:O60566 biolink:Protein UniProtKB:Q86XR8 biolink:Protein UniProtKB:O43683 biolink:Protein UniProtKB:O43684 biolink:Protein Orphanet:1040 biolink:Disease Metaphyseal anadysplasia UniProtKB:P45452 biolink:Protein UniProtKB:P45452 biolink:Protein UniProtKB:P14780 biolink:Protein Orphanet:1106 biolink:Disease Microphthalmia with limb anomalies UniProtKB:Q9H4F8 biolink:Protein Orphanet:990 biolink:Disease Agnathia-holoprosencephaly-situs inversus syndrome UniProtKB:P32243 biolink:Protein UniProtKB:P54821 biolink:Protein Orphanet:994 biolink:Disease Fetal akinesia deformation sequence UniProtKB:Q16572 biolink:Protein UniProtKB:P15172 biolink:Protein UniProtKB:Q13702 biolink:Protein UniProtKB:Q18PE1 biolink:Protein UniProtKB:O15146 biolink:Protein UniProtKB:Q99567 biolink:Protein UniProtKB:Q71U36 biolink:Protein Orphanet:51 biolink:Disease Aicardi-Goutières syndrome UniProtKB:P83369 biolink:Protein UniProtKB:Q9Y3Z3 biolink:Protein UniProtKB:O75792 biolink:Protein UniProtKB:Q5TBB1 biolink:Protein UniProtKB:Q8TDP1 biolink:Protein UniProtKB:P55265 biolink:Protein UniProtKB:Q9NSU2 biolink:Protein UniProtKB:Q9BYX4 biolink:Protein Orphanet:978 biolink:Disease ADULT syndrome UniProtKB:Q9H3D4 biolink:Protein Orphanet:988 biolink:Disease Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome UniProtKB:Q15465 biolink:Protein UniProtKB:Q8WVP7 biolink:Protein Orphanet:983 biolink:Disease Testicular regression syndrome UniProtKB:Q8IY37 biolink:Protein Orphanet:970 biolink:Disease Hereditary sensory and autonomic neuropathy type 2 UniProtKB:Q15858 biolink:Protein UniProtKB:Q9H4A3 biolink:Protein UniProtKB:Q9H6L5 biolink:Protein UniProtKB:Q12756 biolink:Protein Orphanet:40 biolink:Disease Acromesomelic dysplasia, Maroteaux type UniProtKB:P20594 biolink:Protein Orphanet:969 biolink:Disease Acromicric dysplasia UniProtKB:P35555 biolink:Protein UniProtKB:Q9NS15 biolink:Protein Orphanet:974 biolink:Disease Adams-Oliver syndrome UniProtKB:P46531 biolink:Protein UniProtKB:Q2M1Z3 biolink:Protein UniProtKB:Q96HP0 biolink:Protein UniProtKB:Q06330 biolink:Protein UniProtKB:Q5NDL2 biolink:Protein UniProtKB:Q9NR61 biolink:Protein Orphanet:972 biolink:Disease Hereditary continuous muscle fiber activity UniProtKB:Q09470 biolink:Protein Orphanet:959 biolink:Disease Acro-renal-ocular syndrome UniProtKB:Q9UJQ4 biolink:Protein Orphanet:968 biolink:Disease Acromesomelic dysplasia, Hunter-Thompson type UniProtKB:P43026 biolink:Protein Orphanet:1031 biolink:Disease Enamel-renal syndrome UniProtKB:Q96MK3 biolink:Protein Orphanet:64 biolink:Disease Alström syndrome UniProtKB:Q8TCU4 biolink:Protein Orphanet:139396 biolink:Disease X-linked cerebral adrenoleukodystrophy UniProtKB:P33897 biolink:Protein Orphanet:139399 biolink:Disease Adrenomyeloneuropathy UniProtKB:P33897 biolink:Protein Orphanet:139406 biolink:Disease Encephalopathy due to prosaposin deficiency UniProtKB:P07602 biolink:Protein Orphanet:701 biolink:Disease Alopecia universalis UniProtKB:O43593 biolink:Protein Orphanet:1010 biolink:Disease Autosomal dominant palmoplantar keratoderma and congenital alopecia UniProtKB:P17302 biolink:Protein Orphanet:1001 biolink:Disease 2q37 microdeletion syndrome UniProtKB:P56524 biolink:Protein Orphanet:59 biolink:Disease Allan-Herndon-Dudley syndrome UniProtKB:P36021 biolink:Protein Orphanet:127 biolink:Disease Borjeson-Forssman-Lehmann syndrome UniProtKB:Q8IWS0 biolink:Protein Orphanet:1263 biolink:Disease Boomerang dysplasia UniProtKB:O75369 biolink:Protein Orphanet:1234 biolink:Disease Bartsocas-Papas syndrome UniProtKB:P57078 biolink:Protein Orphanet:1231 biolink:Disease Barber-Say syndrome UniProtKB:Q8WVJ9 biolink:Protein Orphanet:1229 biolink:Disease Congenital intrauterine infection-like syndrome UniProtKB:Q16625 biolink:Protein Orphanet:109 biolink:Disease Bannayan-Riley-Ruvalcaba syndrome UniProtKB:P60484 biolink:Protein Orphanet:115 biolink:Disease Congenital contractural arachnodactyly UniProtKB:P35556 biolink:Protein Orphanet:137625 biolink:Disease Glycogen storage disease due to muscle and heart glycogen synthase deficiency UniProtKB:P13807 biolink:Protein Orphanet:137608 biolink:Disease Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome UniProtKB:P60484 biolink:Protein Orphanet:1299 biolink:Disease Branchioskeletogenital syndrome UniProtKB:P55287 biolink:Protein Orphanet:1300 biolink:Disease Autosomal dominant popliteal pterygium syndrome UniProtKB:O14896 biolink:Protein Orphanet:137667 biolink:Disease Capillary malformation-arteriovenous malformation UniProtKB:P20936 biolink:Protein UniProtKB:P54760 biolink:Protein Orphanet:137634 biolink:Disease Overgrowth-macrocephaly-facial dysmorphism syndrome UniProtKB:Q8IUD6 biolink:Protein Orphanet:1297 biolink:Disease Branchio-oculo-facial syndrome UniProtKB:P05549 biolink:Protein Orphanet:137639 biolink:Disease Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome UniProtKB:O14802 biolink:Protein Orphanet:1276 biolink:Disease Brachydactyly-arterial hypertension syndrome UniProtKB:Q14432 biolink:Protein Orphanet:1275 biolink:Disease Brachydactyly-elbow wrist dysplasia syndrome UniProtKB:O75367 biolink:Protein UniProtKB:P78337 biolink:Protein Orphanet:1270 biolink:Disease Bowen-Conradi syndrome UniProtKB:Q92979 biolink:Protein Orphanet:137605 biolink:Disease Legius syndrome UniProtKB:Q7Z699 biolink:Protein Orphanet:1168 biolink:Disease Ataxia-oculomotor apraxia type 1 UniProtKB:Q7Z2E3 biolink:Protein Orphanet:137834 biolink:Disease Frank-Ter Haar syndrome UniProtKB:A1X283 biolink:Protein Orphanet:137831 biolink:Disease X-linked intellectual disability-cerebellar hypoplasia syndrome UniProtKB:O60890 biolink:Protein Orphanet:1170 biolink:Disease Autosomal recessive cerebelloparenchymal disorder type 3 UniProtKB:Q10713 biolink:Protein Orphanet:1175 biolink:Disease X-linked progressive cerebellar ataxia UniProtKB:P08034 biolink:Protein Orphanet:1180 biolink:Disease Ataxia-hypogonadism-choroidal dystrophy syndrome UniProtKB:Q8IY17 biolink:Protein Orphanet:1173 biolink:Disease Cerebellar ataxia-hypogonadism syndrome UniProtKB:Q8IY17 biolink:Protein UniProtKB:Q9NWF9 biolink:Protein Orphanet:137681 biolink:Disease Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 UniProtKB:Q96RP9 biolink:Protein Orphanet:137675 biolink:Disease Histiocytoid cardiomyopathy UniProtKB:P00156 biolink:Protein Orphanet:137678 biolink:Disease Spondyloepiphyseal dysplasia with metatarsal shortening UniProtKB:P02458 biolink:Protein Orphanet:137754 biolink:Disease Neurological conditions associated with aminoacylase 1 deficiency UniProtKB:Q03154 biolink:Protein Orphanet:1145 biolink:Disease Infantile-onset X-linked spinal muscular atrophy UniProtKB:P22314 biolink:Protein Orphanet:137776 biolink:Disease Lethal congenital contracture syndrome type 2 UniProtKB:P21860 biolink:Protein Orphanet:1149 biolink:Disease Kuskokwim syndrome UniProtKB:Q96AY3 biolink:Protein Orphanet:1159 biolink:Disease Progressive pseudorheumatoid arthropathy of childhood UniProtKB:O95389 biolink:Protein Orphanet:137783 biolink:Disease Lethal congenital contracture syndrome type 3 UniProtKB:O60331 biolink:Protein UniProtKB:Q00872 biolink:Protein Orphanet:1215 biolink:Disease Autosomal dominant optic atrophy plus syndrome UniProtKB:O60313 biolink:Protein Orphanet:1216 biolink:Disease Autosomal dominant congenital benign spinal muscular atrophy UniProtKB:Q9HBA0 biolink:Protein Orphanet:1225 biolink:Disease Baller-Gerold syndrome UniProtKB:O94761 biolink:Protein Orphanet:1226 biolink:Disease Bamforth-Lazarus syndrome UniProtKB:O00358 biolink:Protein Orphanet:137888 biolink:Disease Auriculocondylar syndrome UniProtKB:P08754 biolink:Protein UniProtKB:Q15147 biolink:Protein UniProtKB:P05305 biolink:Protein Orphanet:137893 biolink:Disease Male infertility due to large-headed multiflagellar polyploid spermatozoa UniProtKB:Q9UQB9 biolink:Protein UniProtKB:Q96M86 biolink:Protein UniProtKB:Q6ZTR5 biolink:Protein UniProtKB:Q8IVF4 biolink:Protein Orphanet:1186 biolink:Disease Infantile-onset spinocerebellar ataxia UniProtKB:Q96RR1 biolink:Protein Orphanet:137898 biolink:Disease Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome UniProtKB:Q6PI48 biolink:Protein Orphanet:137902 biolink:Disease Isolated optic nerve hypoplasia/aplasia UniProtKB:P26367 biolink:Protein Orphanet:1187 biolink:Disease Lethal ataxia with deafness and optic atrophy UniProtKB:P60891 biolink:Protein Orphanet:1190 biolink:Disease Atelosteogenesis type I UniProtKB:O75369 biolink:Protein Orphanet:137908 biolink:Disease Hypotonia with lactic acidemia and hyperammonemia UniProtKB:P82650 biolink:Protein Orphanet:1200 biolink:Disease Burn-McKeown syndrome UniProtKB:O95602 biolink:Protein UniProtKB:P83876 biolink:Protein Orphanet:141258 biolink:Disease Tessier number 4 facial cleft UniProtKB:Q69YQ0 biolink:Protein Orphanet:1458 biolink:Disease CODAS syndrome UniProtKB:P36776 biolink:Protein Orphanet:1454 biolink:Disease Joubert syndrome with hepatic defect UniProtKB:Q5HYA8 biolink:Protein UniProtKB:Q68CZ1 biolink:Protein UniProtKB:Q9P2K1 biolink:Protein UniProtKB:Q9NRR6 biolink:Protein Orphanet:190 biolink:Disease Coats disease UniProtKB:Q00604 biolink:Protein Orphanet:1429 biolink:Disease Benign hereditary chorea UniProtKB:P43699 biolink:Protein UniProtKB:O95622 biolink:Protein Orphanet:1426 biolink:Disease Greenberg dysplasia UniProtKB:Q14739 biolink:Protein Orphanet:1427 biolink:Disease Otospondylomegaepiphyseal dysplasia UniProtKB:P13942 biolink:Protein Orphanet:1435 biolink:Disease Xq21 microdeletion syndrome UniProtKB:P49335 biolink:Protein Orphanet:155878 biolink:Disease Submucosal cleft palate UniProtKB:Q8TE85 biolink:Protein UniProtKB:P0CG47 biolink:Protein Orphanet:1490 biolink:Disease Corneal dystrophy-perceptive deafness syndrome UniProtKB:Q8NBS3 biolink:Protein Orphanet:1486 biolink:Disease Lethal congenital contracture syndrome type 1 UniProtKB:Q53GS7 biolink:Protein Orphanet:141276 biolink:Disease Tessier number 7 facial cleft UniProtKB:Q9Y6C5 biolink:Protein UniProtKB:Q69YQ0 biolink:Protein Orphanet:1466 biolink:Disease COFS syndrome UniProtKB:P18074 biolink:Protein UniProtKB:Q03468 biolink:Protein UniProtKB:P28715 biolink:Protein UniProtKB:P07992 biolink:Protein Orphanet:141291 biolink:Disease Cleft lip and alveolus UniProtKB:P28360 biolink:Protein UniProtKB:Q9H3D4 biolink:Protein UniProtKB:O14896 biolink:Protein UniProtKB:Q15223 biolink:Protein Orphanet:1410 biolink:Disease Uncombable hair syndrome UniProtKB:Q9ULW8 biolink:Protein UniProtKB:Q08188 biolink:Protein Orphanet:1412 biolink:Disease Tarsal-carpal coalition syndrome UniProtKB:Q13253 biolink:Protein Orphanet:1416 biolink:Disease Familial calcium pyrophosphate deposition UniProtKB:O00300 biolink:Protein UniProtKB:Q9HCJ1 biolink:Protein Orphanet:1394 biolink:Disease Cerebrofaciothoracic dysplasia UniProtKB:Q9UM00 biolink:Protein Orphanet:1401 biolink:Disease CHAND syndrome UniProtKB:P57078 biolink:Protein Orphanet:141074 biolink:Disease External auditory canal aplasia/hypoplasia UniProtKB:Q6ZSZ6 biolink:Protein Orphanet:174 biolink:Disease Metaphyseal chondrodysplasia, Schmid type UniProtKB:Q03692 biolink:Protein Orphanet:1425 biolink:Disease Desbuquois syndrome UniProtKB:Q8TDX6 biolink:Protein UniProtKB:Q8WVQ1 biolink:Protein UniProtKB:Q86Y38 biolink:Protein Orphanet:156728 biolink:Disease Spondyloepimetaphyseal dysplasia, matrilin-3 type UniProtKB:O15232 biolink:Protein Orphanet:163 biolink:Disease Hereditary hyperferritinemia-cataract syndrome UniProtKB:P02792 biolink:Protein Orphanet:1393 biolink:Disease Cerebrocostomandibular syndrome UniProtKB:P14678 biolink:Protein Orphanet:157820 biolink:Disease Cold-induced sweating syndrome UniProtKB:Q8IXQ5 biolink:Protein UniProtKB:O75462 biolink:Protein UniProtKB:Q9UBD9 biolink:Protein Orphanet:157798 biolink:Disease Serrated polyposis syndrome UniProtKB:Q68DV7 biolink:Protein Orphanet:1388 biolink:Disease Catel-Manzke syndrome UniProtKB:O95455 biolink:Protein Orphanet:157801 biolink:Disease Mesoaxial synostotic syndactyly with phalangeal reduction UniProtKB:Q7RTU4 biolink:Protein Orphanet:1387 biolink:Disease Cataract-intellectual disability-hypogonadism syndrome UniProtKB:Q15042 biolink:Protein UniProtKB:Q9H2M9 biolink:Protein Orphanet:157791 biolink:Disease Epithelioid hemangioendothelioma UniProtKB:P19532 biolink:Protein UniProtKB:Q9Y6Y1 biolink:Protein UniProtKB:P46937 biolink:Protein UniProtKB:Q9GZV5 biolink:Protein Orphanet:157794 biolink:Disease Hereditary mixed polyposis syndrome UniProtKB:P36894 biolink:Protein UniProtKB:O60565 biolink:Protein Orphanet:157769 biolink:Disease Situs ambiguus UniProtKB:Q8TDX9 biolink:Protein UniProtKB:O60481 biolink:Protein UniProtKB:Q13705 biolink:Protein UniProtKB:O00292 biolink:Protein UniProtKB:Q96S42 biolink:Protein UniProtKB:Q96M91 biolink:Protein UniProtKB:Q8N119 biolink:Protein UniProtKB:Q9NYC9 biolink:Protein UniProtKB:P0CG37 biolink:Protein Orphanet:157716 biolink:Disease Late infantile CACH syndrome UniProtKB:Q14232 biolink:Protein UniProtKB:P49770 biolink:Protein UniProtKB:Q9NR50 biolink:Protein UniProtKB:Q9UI10 biolink:Protein UniProtKB:Q13144 biolink:Protein Orphanet:157719 biolink:Disease Juvenile or adult CACH syndrome UniProtKB:Q14232 biolink:Protein UniProtKB:P49770 biolink:Protein UniProtKB:Q9NR50 biolink:Protein UniProtKB:Q9UI10 biolink:Protein UniProtKB:Q13144 biolink:Protein Orphanet:157713 biolink:Disease Congenital or early infantile CACH syndrome UniProtKB:Q14232 biolink:Protein UniProtKB:P49770 biolink:Protein UniProtKB:Q9NR50 biolink:Protein UniProtKB:Q9UI10 biolink:Protein UniProtKB:Q13144 biolink:Protein Orphanet:1377 biolink:Disease Cataract-microcornea syndrome UniProtKB:P02489 biolink:Protein UniProtKB:P53673 biolink:Protein UniProtKB:P43320 biolink:Protein UniProtKB:P07315 biolink:Protein UniProtKB:P07320 biolink:Protein UniProtKB:P48165 biolink:Protein UniProtKB:P53674 biolink:Protein UniProtKB:O75444 biolink:Protein Orphanet:157215 biolink:Disease Hereditary hypophosphatemic rickets with hypercalciuria UniProtKB:Q8N130 biolink:Protein UniProtKB:Q06495 biolink:Protein Orphanet:1328 biolink:Disease Camurati-Engelmann disease UniProtKB:P01137 biolink:Protein Orphanet:1338 biolink:Disease Heart defect-tongue hamartoma-polysyndactyly syndrome UniProtKB:O95876 biolink:Protein Orphanet:1340 biolink:Disease Cardiofaciocutaneous syndrome UniProtKB:P15056 biolink:Protein UniProtKB:P01116 biolink:Protein UniProtKB:Q02750 biolink:Protein UniProtKB:P36507 biolink:Protein Orphanet:2856 biolink:Disease Persistent Müllerian duct syndrome UniProtKB:P03971 biolink:Protein UniProtKB:Q16671 biolink:Protein Orphanet:1766 biolink:Disease Dysequilibrium syndrome UniProtKB:P98155 biolink:Protein UniProtKB:Q562E7 biolink:Protein UniProtKB:P35219 biolink:Protein UniProtKB:Q9NTI2 biolink:Protein UniProtKB:Q9BVA1 biolink:Protein Orphanet:1777 biolink:Disease Temtamy syndrome UniProtKB:Q99622 biolink:Protein Orphanet:1772 biolink:Disease 45,X/46,XY mixed gonadal dysgenesis UniProtKB:Q05066 biolink:Protein Orphanet:1782 biolink:Disease Dysosteosclerosis UniProtKB:Q9Y6Q6 biolink:Protein UniProtKB:Q13488 biolink:Protein UniProtKB:Q9BZD2 biolink:Protein Orphanet:1788 biolink:Disease Acrofacial dysostosis, Rodríguez type UniProtKB:Q15427 biolink:Protein Orphanet:859 biolink:Disease Transcobalamin deficiency UniProtKB:P20062 biolink:Protein Orphanet:139441 biolink:Disease Hypomyelination with atrophy of basal ganglia and cerebellum UniProtKB:P04350 biolink:Protein UniProtKB:P61960 biolink:Protein Orphanet:139447 biolink:Disease Progressive cavitating leukoencephalopathy UniProtKB:P19404 biolink:Protein Orphanet:1573 biolink:Disease Hypotrichosis with juvenile macular degeneration UniProtKB:P22223 biolink:Protein Orphanet:726 biolink:Disease Alpers-Huttenlocher syndrome UniProtKB:P54098 biolink:Protein Orphanet:139455 biolink:Disease Autosomal recessive bestrophinopathy UniProtKB:O76090 biolink:Protein Orphanet:139466 biolink:Disease SERKAL syndrome UniProtKB:P56705 biolink:Protein Orphanet:1596 biolink:Disease Distal monosomy 15q UniProtKB:Q6DN12 biolink:Protein Orphanet:139471 biolink:Disease Microphthalmia with brain and digit anomalies UniProtKB:P12644 biolink:Protein Orphanet:139474 biolink:Disease 17q11.2 microduplication syndrome UniProtKB:P21359 biolink:Protein Orphanet:1617 biolink:Disease 2q24 microdeletion syndrome UniProtKB:Q16650 biolink:Protein Orphanet:1606 biolink:Disease 1p36 deletion syndrome UniProtKB:Q9P2R6 biolink:Protein UniProtKB:Q05513 biolink:Protein UniProtKB:O95155 biolink:Protein UniProtKB:O75900 biolink:Protein UniProtKB:O14764 biolink:Protein UniProtKB:P12755 biolink:Protein UniProtKB:Q13303 biolink:Protein UniProtKB:Q9HAZ2 biolink:Protein UniProtKB:Q86V15 biolink:Protein UniProtKB:Q96T58 biolink:Protein UniProtKB:Q86YL7 biolink:Protein UniProtKB:Q86V48 biolink:Protein UniProtKB:P98160 biolink:Protein UniProtKB:Q96T58 biolink:Protein Orphanet:139480 biolink:Disease Autosomal recessive spastic paraplegia type 39 UniProtKB:Q8IY17 biolink:Protein Orphanet:139485 biolink:Disease Autosomal recessive ataxia due to ubiquinone deficiency UniProtKB:Q8NI60 biolink:Protein Orphanet:139491 biolink:Disease Hemochromatosis type 4 UniProtKB:Q9NP59 biolink:Protein UniProtKB:Q9NP59 biolink:Protein Orphanet:139498 biolink:Disease NON RARE IN EUROPE: Hemochromatosis type 1 UniProtKB:Q30201 biolink:Protein Orphanet:139515 biolink:Disease Charcot-Marie-Tooth disease type 4J UniProtKB:Q92562 biolink:Protein Orphanet:139512 biolink:Disease Neuropathy with hearing impairment UniProtKB:O75712 biolink:Protein Orphanet:139525 biolink:Disease Distal hereditary motor neuropathy type 2 UniProtKB:P04792 biolink:Protein UniProtKB:Q9UJY1 biolink:Protein UniProtKB:Q12988 biolink:Protein UniProtKB:Q6PIJ6 biolink:Protein Orphanet:1658 biolink:Disease Absence of fingerprints-congenital milia syndrome UniProtKB:Q9H4L7 biolink:Protein Orphanet:139536 biolink:Disease Distal hereditary motor neuropathy type 5 UniProtKB:Q9H902 biolink:Protein UniProtKB:Q96G97 biolink:Protein UniProtKB:P41250 biolink:Protein Orphanet:139557 biolink:Disease X-linked distal spinal muscular atrophy type 3 UniProtKB:Q04656 biolink:Protein Orphanet:1662 biolink:Disease Restrictive dermopathy UniProtKB:O75844 biolink:Protein UniProtKB:P02545 biolink:Protein Orphanet:139552 biolink:Disease Distal hereditary motor neuropathy, Jerash type UniProtKB:Q99720 biolink:Protein Orphanet:139583 biolink:Disease X-linked hereditary sensory and autonomic neuropathy with deafness UniProtKB:O95831 biolink:Protein Orphanet:1667 biolink:Disease Wolcott-Rallison syndrome UniProtKB:Q9NZJ5 biolink:Protein Orphanet:139578 biolink:Disease Mutilating hereditary sensory neuropathy with spastic paraplegia UniProtKB:P48643 biolink:Protein Orphanet:139589 biolink:Disease Distal hereditary motor neuropathy type 7 UniProtKB:Q14203 biolink:Protein UniProtKB:Q9GZV3 biolink:Protein Orphanet:140917 biolink:Disease Stapes ankylosis with broad thumbs and toes UniProtKB:Q13253 biolink:Protein Orphanet:140922 biolink:Disease Titin-related limb-girdle muscular dystrophy R10 UniProtKB:Q8WZ42 biolink:Protein Orphanet:1545 biolink:Disease Crisponi syndrome UniProtKB:O75462 biolink:Protein UniProtKB:Q9UBD9 biolink:Protein Orphanet:140905 biolink:Disease Hyperlipidemia due to hepatic triacylglycerol lipase deficiency UniProtKB:P11150 biolink:Protein Orphanet:1540 biolink:Disease Jackson-Weiss syndrome UniProtKB:P21802 biolink:Protein Orphanet:140908 biolink:Disease Brachydactyly type B2 UniProtKB:Q13253 biolink:Protein Orphanet:140952 biolink:Disease Syndactyly-telecanthus-anogenital and renal malformations syndrome UniProtKB:Q8N1B3 biolink:Protein Orphanet:140957 biolink:Disease Autosomal dominant macrothrombocytopenia UniProtKB:P07359 biolink:Protein UniProtKB:Q96QT4 biolink:Protein UniProtKB:Q5VTD9 biolink:Protein UniProtKB:P13224 biolink:Protein UniProtKB:P67936 biolink:Protein UniProtKB:P08514 biolink:Protein UniProtKB:P05106 biolink:Protein UniProtKB:Q9H4B7 biolink:Protein UniProtKB:P12814 biolink:Protein Orphanet:140944 biolink:Disease CLOVES syndrome UniProtKB:P42336 biolink:Protein Orphanet:1555 biolink:Disease Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome UniProtKB:P21802 biolink:Protein Orphanet:140941 biolink:Disease Short stature due to primary acid-labile subunit deficiency UniProtKB:P35858 biolink:Protein Orphanet:1553 biolink:Disease Curry-Jones syndrome UniProtKB:Q99835 biolink:Protein Orphanet:140927 biolink:Disease Benign familial neonatal-infantile seizures UniProtKB:Q99250 biolink:Protein UniProtKB:O43526 biolink:Protein Orphanet:140976 biolink:Disease RHYNS syndrome UniProtKB:Q5HYA8 biolink:Protein Orphanet:140969 biolink:Disease Saldino-Mainzer syndrome UniProtKB:Q96RY7 biolink:Protein UniProtKB:Q9UG01 biolink:Protein Orphanet:140966 biolink:Disease Palmoplantar keratoderma, Nagashima type UniProtKB:O75635 biolink:Protein Orphanet:140963 biolink:Disease Bilateral microtia-deafness-cleft palate syndrome UniProtKB:O43364 biolink:Protein Orphanet:382 biolink:Disease Guanidinoacetate methyltransferase deficiency UniProtKB:Q14353 biolink:Protein Orphanet:742 biolink:Disease Prolidase deficiency UniProtKB:P12955 biolink:Protein Orphanet:1571 biolink:Disease Knobloch syndrome UniProtKB:Q13177 biolink:Protein UniProtKB:P39060 biolink:Protein Orphanet:1568 biolink:Disease X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome UniProtKB:P56377 biolink:Protein Orphanet:1497 biolink:Disease X-linked complicated corpus callosum dysgenesis UniProtKB:P32004 biolink:Protein Orphanet:140436 biolink:Disease Primary intraosseous venous malformation UniProtKB:Q96JJ3 biolink:Protein Orphanet:1493 biolink:Disease Vici syndrome UniProtKB:Q9HCE0 biolink:Protein Orphanet:1509 biolink:Disease Coxopodopatellar syndrome UniProtKB:P57082 biolink:Protein Orphanet:1507 biolink:Disease Autosomal recessive Robinow syndrome UniProtKB:Q01974 biolink:Protein UniProtKB:Q6DKJ4 biolink:Protein Orphanet:1517 biolink:Disease Cantú syndrome UniProtKB:O60706 biolink:Protein UniProtKB:Q15842 biolink:Protein Orphanet:1519 biolink:Disease SPECC1L-related hypertelorism syndrome UniProtKB:Q69YQ0 biolink:Protein Orphanet:1520 biolink:Disease Craniofrontonasal dysplasia UniProtKB:P98172 biolink:Protein Orphanet:1513 biolink:Disease Craniodiaphyseal dysplasia UniProtKB:Q9BQB4 biolink:Protein Orphanet:140481 biolink:Disease Autosomal dominant slowed nerve conduction velocity UniProtKB:O15013 biolink:Protein Orphanet:1515 biolink:Disease Cranioectodermal dysplasia UniProtKB:Q9HBG6 biolink:Protein UniProtKB:Q9P2L0 biolink:Protein UniProtKB:Q96FT9 biolink:Protein UniProtKB:Q8NEZ3 biolink:Protein UniProtKB:Q9Y366 biolink:Protein Orphanet:1529 biolink:Disease Craniofacial-deafness-hand syndrome UniProtKB:P23760 biolink:Protein Orphanet:1522 biolink:Disease Craniometaphyseal dysplasia UniProtKB:Q9HCJ1 biolink:Protein UniProtKB:P17302 biolink:Protein Orphanet:1525 biolink:Disease Cranio-osteoarthropathy UniProtKB:P15428 biolink:Protein Orphanet:1824 biolink:Disease Lowry-Wood syndrome Orphanet:1955 biolink:Disease Spinocerebellar ataxia type 34 UniProtKB:Q9GZR5 biolink:Protein Orphanet:2209 biolink:Disease Maternal phenylketonuria UniProtKB:P00439 biolink:Protein Orphanet:1896 biolink:Disease EEC syndrome UniProtKB:Q9H3D4 biolink:Protein Orphanet:1897 biolink:Disease EEM syndrome UniProtKB:P22223 biolink:Protein Orphanet:1807 biolink:Disease Focal facial dermal dysplasia type III UniProtKB:Q8WVJ9 biolink:Protein Orphanet:1873 biolink:Disease Jalili syndrome UniProtKB:Q6P4Q7 biolink:Protein Orphanet:1879 biolink:Disease Melorheostosis with osteopoikilosis UniProtKB:Q9Y2U8 biolink:Protein Orphanet:1872 biolink:Disease Cone rod dystrophy UniProtKB:Q92834 biolink:Protein UniProtKB:P23942 biolink:Protein UniProtKB:O43822 biolink:Protein UniProtKB:Q9BZ71 biolink:Protein UniProtKB:P04001 biolink:Protein UniProtKB:O43186 biolink:Protein UniProtKB:Q9HAN9 biolink:Protein UniProtKB:Q96NL8 biolink:Protein UniProtKB:Q96JP9 biolink:Protein UniProtKB:P78363 biolink:Protein UniProtKB:Q86UR5 biolink:Protein UniProtKB:Q96KN7 biolink:Protein UniProtKB:O60840 biolink:Protein UniProtKB:Q16281 biolink:Protein UniProtKB:Q9NZN9 biolink:Protein UniProtKB:P43080 biolink:Protein UniProtKB:Q02846 biolink:Protein UniProtKB:P04000 biolink:Protein UniProtKB:Q96IS3 biolink:Protein UniProtKB:Q9H3S1 biolink:Protein UniProtKB:O43490 biolink:Protein UniProtKB:Q7Z3S7 biolink:Protein UniProtKB:Q13443 biolink:Protein UniProtKB:Q13432 biolink:Protein UniProtKB:P51157 biolink:Protein UniProtKB:Q8TC44 biolink:Protein UniProtKB:Q6UX65 biolink:Protein UniProtKB:Q6EMB2 biolink:Protein UniProtKB:Q71RH2 biolink:Protein UniProtKB:P18850 biolink:Protein Orphanet:1871 biolink:Disease Progressive cone dystrophy UniProtKB:P51160 biolink:Protein UniProtKB:P19087 biolink:Protein UniProtKB:Q9NQW8 biolink:Protein UniProtKB:P43080 biolink:Protein Orphanet:1860 biolink:Disease Thanatophoric dysplasia type 1 UniProtKB:P22607 biolink:Protein Orphanet:1865 biolink:Disease Dyssegmental dysplasia, Silverman-Handmaker type UniProtKB:P98160 biolink:Protein Orphanet:1830 biolink:Disease Schimke immuno-osseous dysplasia UniProtKB:Q9NZC9 biolink:Protein Orphanet:1802 biolink:Disease Ghosal hematodiaphyseal dysplasia UniProtKB:P24557 biolink:Protein Orphanet:2128 biolink:Disease Isolated hemihyperplasia UniProtKB:P01344 biolink:Protein Orphanet:2136 biolink:Disease Hennekam syndrome UniProtKB:Q6UXH8 biolink:Protein UniProtKB:Q6V0I7 biolink:Protein UniProtKB:O15072 biolink:Protein Orphanet:2138 biolink:Disease 46,XX ovotesticular disorder of sex development UniProtKB:P48436 biolink:Protein UniProtKB:Q05066 biolink:Protein UniProtKB:Q13285 biolink:Protein Orphanet:2143 biolink:Disease Donnai-Barrow syndrome UniProtKB:P98164 biolink:Protein Orphanet:2148 biolink:Disease Lissencephaly type 1 due to doublecortin gene mutation UniProtKB:O43602 biolink:Protein Orphanet:2114 biolink:Disease Hip dysplasia, Beukes type UniProtKB:Q9NUQ7 biolink:Protein Orphanet:2117 biolink:Disease Hartsfield syndrome UniProtKB:P11362 biolink:Protein Orphanet:376 biolink:Disease Gordon syndrome UniProtKB:Q9H5I5 biolink:Protein Orphanet:2092 biolink:Disease Focal dermal hypoplasia UniProtKB:Q9H237 biolink:Protein Orphanet:2098 biolink:Disease Acromesomelic dysplasia, Grebe type UniProtKB:O00238 biolink:Protein UniProtKB:P43026 biolink:Protein Orphanet:380 biolink:Disease Greig cephalopolysyndactyly syndrome UniProtKB:P10071 biolink:Protein Orphanet:2095 biolink:Disease Gorlin-Chaudhry-Moss syndrome UniProtKB:Q6NUK1 biolink:Protein Orphanet:158029 biolink:Disease Sea-blue histiocytosis UniProtKB:P02649 biolink:Protein Orphanet:157846 biolink:Disease Neuroferritinopathy UniProtKB:P02792 biolink:Protein Orphanet:2067 biolink:Disease GAPO syndrome UniProtKB:Q9H6X2 biolink:Protein Orphanet:2065 biolink:Disease Galloway-Mowat syndrome UniProtKB:Q9NPF4 biolink:Protein UniProtKB:Q96S44 biolink:Protein UniProtKB:Q6P4I2 biolink:Protein UniProtKB:P57740 biolink:Protein UniProtKB:Q9Y3C4 biolink:Protein UniProtKB:Q14657 biolink:Protein UniProtKB:P57081 biolink:Protein UniProtKB:Q8WUM0 biolink:Protein Orphanet:157941 biolink:Disease Huntington disease-like 1 UniProtKB:P04156 biolink:Protein Orphanet:2072 biolink:Disease Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome UniProtKB:P04062 biolink:Protein Orphanet:157954 biolink:Disease ANE syndrome UniProtKB:Q9NW13 biolink:Protein Orphanet:157962 biolink:Disease Oculoauricular syndrome, Schorderet type UniProtKB:Q9NP08 biolink:Protein Orphanet:2078 biolink:Disease Geroderma osteodysplastica UniProtKB:Q5T7V8 biolink:Protein UniProtKB:P32322 biolink:Protein Orphanet:157949 biolink:Disease Combined immunodeficiency with granulomatosis UniProtKB:Q9ULG1 biolink:Protein UniProtKB:P15918 biolink:Protein UniProtKB:P55895 biolink:Protein Orphanet:157973 biolink:Disease Congenital muscular dystrophy due to LMNA mutation UniProtKB:P02545 biolink:Protein Orphanet:2084 biolink:Disease Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome UniProtKB:P35555 biolink:Protein Orphanet:157965 biolink:Disease SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome UniProtKB:Q96H72 biolink:Protein Orphanet:1826 biolink:Disease Frontometaphyseal dysplasia UniProtKB:O43318 biolink:Protein UniProtKB:P21333 biolink:Protein Orphanet:2050 biolink:Disease Cole-Carpenter syndrome UniProtKB:P07237 biolink:Protein UniProtKB:O94855 biolink:Protein Orphanet:2059 biolink:Disease Fryns syndrome UniProtKB:O95427 biolink:Protein Orphanet:2026 biolink:Disease Gingival fibromatosis-hypertrichosis syndrome UniProtKB:Q8WWZ7 biolink:Protein Orphanet:2028 biolink:Disease Juvenile hyaline fibromatosis UniProtKB:P58335 biolink:Protein Orphanet:2021 biolink:Disease Fibrochondrogenesis UniProtKB:P12107 biolink:Protein UniProtKB:P13942 biolink:Protein Orphanet:2024 biolink:Disease Hereditary gingival fibromatosis UniProtKB:Q07889 biolink:Protein UniProtKB:Q13127 biolink:Protein Orphanet:2044 biolink:Disease Floating-Harbor syndrome UniProtKB:Q6ZRS2 biolink:Protein Orphanet:2036 biolink:Disease Scalp-ear-nipple syndrome UniProtKB:Q719H9 biolink:Protein Orphanet:158769 biolink:Disease Plaque-form urticaria pigmentosa UniProtKB:P10721 biolink:Protein Orphanet:158766 biolink:Disease Typical urticaria pigmentosa UniProtKB:P10721 biolink:Protein Orphanet:158687 biolink:Disease Lethal acantholytic erosive disorder UniProtKB:P15924 biolink:Protein UniProtKB:P14923 biolink:Protein Orphanet:158684 biolink:Disease Epidermolysis bullosa simplex with pyloric atresia UniProtKB:Q15149 biolink:Protein UniProtKB:P16144 biolink:Protein Orphanet:158681 biolink:Disease Epidermolysis bullosa simplex with circinate migratory erythema UniProtKB:P13647 biolink:Protein Orphanet:158676 biolink:Disease Localized dystrophic epidermolysis bullosa, nails only UniProtKB:Q02388 biolink:Protein Orphanet:158673 biolink:Disease Localized dystrophic epidermolysis bullosa, acral form UniProtKB:Q02388 biolink:Protein Orphanet:158668 biolink:Disease Ectodermal dysplasia-skin fragility syndrome UniProtKB:Q13835 biolink:Protein Orphanet:158778 biolink:Disease Isolated bone marrow mastocytosis UniProtKB:P10721 biolink:Protein Orphanet:158775 biolink:Disease Smoldering systemic mastocytosis UniProtKB:P10721 biolink:Protein Orphanet:158772 biolink:Disease Nodular urticaria pigmentosa UniProtKB:P10721 biolink:Protein Orphanet:1986 biolink:Disease Gollop-Wolfgang complex UniProtKB:Q7RTU4 biolink:Protein Orphanet:1980 biolink:Disease Bilateral striopallidodentate calcinosis UniProtKB:P57087 biolink:Protein UniProtKB:Q6NSJ0 biolink:Protein UniProtKB:P09619 biolink:Protein UniProtKB:P01127 biolink:Protein UniProtKB:Q08357 biolink:Protein UniProtKB:Q9UBH6 biolink:Protein Orphanet:1997 biolink:Disease Blepharo-cheilo-odontic syndrome UniProtKB:O60716 biolink:Protein UniProtKB:P12830 biolink:Protein Orphanet:2348 biolink:Disease Familial partial lipodystrophy, Dunnigan type UniProtKB:P02545 biolink:Protein Orphanet:247768 biolink:Disease Müllerian aplasia and hyperandrogenism UniProtKB:P56705 biolink:Protein Orphanet:2353 biolink:Disease Schilbach-Rott syndrome UniProtKB:Q13635 biolink:Protein Orphanet:247790 biolink:Disease FTH1-related iron overload UniProtKB:P02794 biolink:Protein Orphanet:247798 biolink:Disease MUTYH-related attenuated familial adenomatous polyposis UniProtKB:Q9UIF7 biolink:Protein Orphanet:247794 biolink:Disease Juvenile cataract-microcornea-renal glucosuria syndrome UniProtKB:Q6ZSM3 biolink:Protein Orphanet:247815 biolink:Disease Autosomal recessive ataxia due to PEX10 deficiency UniProtKB:O60683 biolink:Protein Orphanet:247806 biolink:Disease APC-related attenuated familial adenomatous polyposis UniProtKB:P25054 biolink:Protein Orphanet:2363 biolink:Disease Lacrimoauriculodentodigital syndrome UniProtKB:O15520 biolink:Protein UniProtKB:P22607 biolink:Protein UniProtKB:P21802 biolink:Protein Orphanet:247691 biolink:Disease Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations UniProtKB:Q9NSU2 biolink:Protein Orphanet:2340 biolink:Disease Keratosis follicularis spinulosa decalvans UniProtKB:O43462 biolink:Protein UniProtKB:P21673 biolink:Protein UniProtKB:Q07954 biolink:Protein Orphanet:247685 biolink:Disease Odontohypophosphatasia UniProtKB:P05186 biolink:Protein Orphanet:2342 biolink:Disease Haim-Munk syndrome UniProtKB:P53634 biolink:Protein Orphanet:247709 biolink:Disease Multiple endocrine neoplasia type 2B UniProtKB:P07949 biolink:Protein Orphanet:247698 biolink:Disease Multiple endocrine neoplasia type 2A UniProtKB:P07949 biolink:Protein Orphanet:485 biolink:Disease Kniest dysplasia UniProtKB:P02458 biolink:Protein Orphanet:247585 biolink:Disease Citrullinemia type II UniProtKB:Q9UJS0 biolink:Protein Orphanet:247598 biolink:Disease Neonatal intrahepatic cholestasis due to citrin deficiency UniProtKB:Q9UJS0 biolink:Protein Orphanet:2332 biolink:Disease KBG syndrome UniProtKB:Q6UB99 biolink:Protein Orphanet:247604 biolink:Disease Juvenile primary lateral sclerosis UniProtKB:Q96Q42 biolink:Protein UniProtKB:O94905 biolink:Protein Orphanet:247623 biolink:Disease Perinatal lethal hypophosphatasia UniProtKB:P05186 biolink:Protein Orphanet:2335 biolink:Disease NON RARE IN EUROPE: Isolated keratoconus UniProtKB:Q9NZR4 biolink:Protein Orphanet:247638 biolink:Disease Prenatal benign hypophosphatasia UniProtKB:P05186 biolink:Protein Orphanet:2337 biolink:Disease Non-epidermolytic palmoplantar keratoderma UniProtKB:P55064 biolink:Protein Orphanet:247651 biolink:Disease Infantile hypophosphatasia UniProtKB:P05186 biolink:Protein Orphanet:247667 biolink:Disease Childhood-onset hypophosphatasia UniProtKB:P05186 biolink:Protein Orphanet:247676 biolink:Disease Adult hypophosphatasia UniProtKB:P05186 biolink:Protein Orphanet:494 biolink:Disease Keratoderma hereditarium mutilans UniProtKB:P29033 biolink:Protein Orphanet:2322 biolink:Disease Kabuki syndrome UniProtKB:O14686 biolink:Protein UniProtKB:O15550 biolink:Protein Orphanet:247378 biolink:Disease Autosomal recessive secondary polycythemia not associated with VHL gene UniProtKB:P07738 biolink:Protein Orphanet:247511 biolink:Disease Autosomal dominant secondary polycythemia UniProtKB:P01588 biolink:Protein UniProtKB:Q9GZT9 biolink:Protein UniProtKB:Q99814 biolink:Protein UniProtKB:P69905 biolink:Protein UniProtKB:P69905 biolink:Protein UniProtKB:P68871 biolink:Protein Orphanet:2323 biolink:Disease Sanjad-Sakati syndrome UniProtKB:Q15813 biolink:Protein Orphanet:247522 biolink:Disease Primary ciliary dyskinesia-retinitis pigmentosa syndrome UniProtKB:Q92834 biolink:Protein Orphanet:247546 biolink:Disease Acute neonatal citrullinemia type I UniProtKB:P00966 biolink:Protein Orphanet:247573 biolink:Disease Adult-onset citrullinemia type I UniProtKB:P00966 biolink:Protein Orphanet:2407 biolink:Disease Laryngo-onycho-cutaneous syndrome UniProtKB:Q16787 biolink:Protein Orphanet:248408 biolink:Disease Familial hypodysfibrinogenemia UniProtKB:P02671 biolink:Protein UniProtKB:P02675 biolink:Protein UniProtKB:P02679 biolink:Protein Orphanet:2396 biolink:Disease Encephalocraniocutaneous lipomatosis UniProtKB:P11362 biolink:Protein UniProtKB:P01116 biolink:Protein Orphanet:248340 biolink:Disease Isolated delta-storage pool disease UniProtKB:Q01543 biolink:Protein Orphanet:2388 biolink:Disease Choreoacanthocytosis UniProtKB:Q96RL7 biolink:Protein Orphanet:248111 biolink:Disease Juvenile Huntington disease UniProtKB:P42858 biolink:Protein Orphanet:2387 biolink:Disease Leukonychia totalis UniProtKB:P51178 biolink:Protein Orphanet:2379 biolink:Disease Early-onset parkinsonism-intellectual disability syndrome UniProtKB:Q96DA2 biolink:Protein Orphanet:247834 biolink:Disease Occult macular dystrophy UniProtKB:Q8IWN7 biolink:Protein Orphanet:247820 biolink:Disease Ectodermal dysplasia-syndactyly syndrome UniProtKB:Q96NY8 biolink:Protein Orphanet:2378 biolink:Disease Laurin-Sandrow syndrome UniProtKB:Q8WVP7 biolink:Protein Orphanet:247868 biolink:Disease NLRP12-associated hereditary periodic fever syndrome UniProtKB:P59046 biolink:Protein Orphanet:2451 biolink:Disease Mucocutaneous venous malformations UniProtKB:Q02763 biolink:Protein Orphanet:244305 biolink:Disease Dominant hypophosphatemia with nephrolithiasis or osteoporosis UniProtKB:Q06495 biolink:Protein UniProtKB:O14745 biolink:Protein Orphanet:244283 biolink:Disease Biliary atresia with splenic malformation syndrome UniProtKB:P0CG37 biolink:Protein Orphanet:2440 biolink:Disease Isolated split hand-split foot malformation UniProtKB:P56179 biolink:Protein UniProtKB:Q9UBC2 biolink:Protein UniProtKB:Q9H3D4 biolink:Protein UniProtKB:P60896 biolink:Protein UniProtKB:O00744 biolink:Protein UniProtKB:P56178 biolink:Protein UniProtKB:Q9Y297 biolink:Protein UniProtKB:P57775 biolink:Protein Orphanet:244310 biolink:Disease RFT1-CDG UniProtKB:Q96AA3 biolink:Protein Orphanet:244242 biolink:Disease HELLP syndrome UniProtKB:P15529 biolink:Protein UniProtKB:P08603 biolink:Protein UniProtKB:P05156 biolink:Protein Orphanet:296 biolink:Disease Ollier disease UniProtKB:Q03431 biolink:Protein UniProtKB:P48735 biolink:Protein UniProtKB:O75874 biolink:Protein Orphanet:244275 biolink:Disease De novo thrombotic microangiopathy after kidney transplantation UniProtKB:P05156 biolink:Protein UniProtKB:P08603 biolink:Protein Orphanet:2438 biolink:Disease Hand-foot-genital syndrome UniProtKB:P31271 biolink:Protein Orphanet:243343 biolink:Disease Dimethylglycine dehydrogenase deficiency UniProtKB:Q9UI17 biolink:Protein Orphanet:243367 biolink:Disease Acute fatty liver of pregnancy UniProtKB:P40939 biolink:Protein Orphanet:243377 biolink:Disease NON RARE IN EUROPE: Diabetes mellitus type 1 UniProtKB:P01911 biolink:Protein UniProtKB:P01909 biolink:Protein UniProtKB:P01920 biolink:Protein Orphanet:243761 biolink:Disease NON RARE IN EUROPE: Essential hypertension UniProtKB:P30556 biolink:Protein UniProtKB:Q16647 biolink:Protein UniProtKB:P01019 biolink:Protein UniProtKB:P11086 biolink:Protein Orphanet:247353 biolink:Disease Generalized pustular psoriasis UniProtKB:Q9UBH0 biolink:Protein UniProtKB:Q96PC3 biolink:Protein Orphanet:247262 biolink:Disease Hyperphosphatasia-intellectual disability syndrome UniProtKB:Q9NUD9 biolink:Protein UniProtKB:Q9Y2B2 biolink:Protein UniProtKB:Q8TEQ8 biolink:Protein UniProtKB:Q9UHJ9 biolink:Protein UniProtKB:Q96FM1 biolink:Protein UniProtKB:Q7Z7B1 biolink:Protein UniProtKB:Q3MUY2 biolink:Protein Orphanet:2484 biolink:Disease Melnick-Needles syndrome UniProtKB:P21333 biolink:Protein Orphanet:247198 biolink:Disease Progressive cerebello-cerebral atrophy UniProtKB:Q9HD40 biolink:Protein UniProtKB:Q5VIR6 biolink:Protein Orphanet:2473 biolink:Disease McKusick-Kaufman syndrome UniProtKB:Q9NPJ1 biolink:Protein Orphanet:2470 biolink:Disease Matthew-Wood syndrome UniProtKB:Q9BX79 biolink:Protein UniProtKB:P10826 biolink:Protein Orphanet:561 biolink:Disease Marshall-Smith syndrome UniProtKB:Q14938 biolink:Protein Orphanet:559 biolink:Disease Marinesco-Sjögren syndrome UniProtKB:Q9H173 biolink:Protein UniProtKB:Q9BT40 biolink:Protein Orphanet:2462 biolink:Disease Shprintzen-Goldberg syndrome UniProtKB:P12755 biolink:Protein UniProtKB:P35555 biolink:Protein Orphanet:2461 biolink:Disease Marden-Walker syndrome UniProtKB:Q9H5I5 biolink:Protein Orphanet:251630 biolink:Disease Anaplastic oligodendroglioma UniProtKB:P48735 biolink:Protein UniProtKB:Q9NUX5 biolink:Protein Orphanet:251636 biolink:Disease Ependymoma UniProtKB:Q04206 biolink:Protein UniProtKB:C9JLR9 biolink:Protein Orphanet:2176 biolink:Disease Infantile systemic hyalinosis UniProtKB:P58335 biolink:Protein Orphanet:251656 biolink:Disease Oligoastrocytoma UniProtKB:P48735 biolink:Protein Orphanet:251663 biolink:Disease Anaplastic oligoastrocytoma UniProtKB:P48735 biolink:Protein Orphanet:251671 biolink:Disease Angiocentric glioma UniProtKB:P10242 biolink:Protein UniProtKB:Q96PU8 biolink:Protein Orphanet:2189 biolink:Disease Hydrolethalus UniProtKB:Q96M11 biolink:Protein UniProtKB:Q2M1P5 biolink:Protein Orphanet:312 biolink:Disease Autosomal dominant epidermolytic ichthyosis UniProtKB:P04264 biolink:Protein UniProtKB:P13645 biolink:Protein Orphanet:2196 biolink:Disease Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement UniProtKB:Q8N6F1 biolink:Protein Orphanet:251576 biolink:Disease Gliosarcoma UniProtKB:P25963 biolink:Protein UniProtKB:P16455 biolink:Protein UniProtKB:P00533 biolink:Protein UniProtKB:P11362 biolink:Protein UniProtKB:P22607 biolink:Protein UniProtKB:P04637 biolink:Protein UniProtKB:Q9Y6A5 biolink:Protein UniProtKB:O75410 biolink:Protein UniProtKB:P37231 biolink:Protein UniProtKB:Q8N653 biolink:Protein UniProtKB:Q6ZU15 biolink:Protein UniProtKB:O75874 biolink:Protein Orphanet:387 biolink:Disease NON RARE IN EUROPE: Hidradenitis suppurativa UniProtKB:P49768 biolink:Protein UniProtKB:Q92542 biolink:Protein UniProtKB:Q9NZ42 biolink:Protein Orphanet:251579 biolink:Disease Giant cell glioblastoma UniProtKB:P37231 biolink:Protein UniProtKB:P25963 biolink:Protein UniProtKB:P16455 biolink:Protein UniProtKB:P00533 biolink:Protein UniProtKB:P11362 biolink:Protein UniProtKB:P22607 biolink:Protein UniProtKB:P04637 biolink:Protein UniProtKB:Q9Y6A5 biolink:Protein UniProtKB:O75410 biolink:Protein UniProtKB:O75874 biolink:Protein UniProtKB:Q8N653 biolink:Protein UniProtKB:Q6ZU15 biolink:Protein Orphanet:251589 biolink:Disease Anaplastic astrocytoma UniProtKB:P48735 biolink:Protein Orphanet:251598 biolink:Disease Protoplasmic astrocytoma UniProtKB:P48735 biolink:Protein Orphanet:251604 biolink:Disease Gemistocytic astrocytoma UniProtKB:P48735 biolink:Protein Orphanet:251601 biolink:Disease Fibrillary astrocytoma UniProtKB:P48735 biolink:Protein Orphanet:251615 biolink:Disease Pilomyxoid astrocytoma UniProtKB:P15056 biolink:Protein UniProtKB:P15056 biolink:Protein UniProtKB:P01116 biolink:Protein UniProtKB:P04049 biolink:Protein UniProtKB:P11362 biolink:Protein UniProtKB:O43295 biolink:Protein UniProtKB:Q16620 biolink:Protein UniProtKB:Q9HCM3 biolink:Protein Orphanet:251627 biolink:Disease Oligodendroglioma UniProtKB:P48735 biolink:Protein UniProtKB:Q9NUX5 biolink:Protein Orphanet:2169 biolink:Disease Methylcobalamin deficiency type cblE UniProtKB:Q9UBK8 biolink:Protein Orphanet:2228 biolink:Disease Hypodontia-dysplasia of nails syndrome UniProtKB:P28360 biolink:Protein Orphanet:2227 biolink:Disease NON RARE IN EUROPE: Hypodontia UniProtKB:P11362 biolink:Protein UniProtKB:Q92838 biolink:Protein UniProtKB:O14896 biolink:Protein UniProtKB:P28360 biolink:Protein UniProtKB:P55771 biolink:Protein UniProtKB:P01135 biolink:Protein UniProtKB:Q9GZT5 biolink:Protein UniProtKB:Q9NS15 biolink:Protein UniProtKB:O43736 biolink:Protein UniProtKB:Q9Y2T1 biolink:Protein Orphanet:2224 biolink:Disease Hypertryptophanemia UniProtKB:P48775 biolink:Protein Orphanet:2229 biolink:Disease Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome UniProtKB:P02545 biolink:Protein Orphanet:2237 biolink:Disease Hypoparathyroidism-sensorineural deafness-renal disease syndrome UniProtKB:P23771 biolink:Protein Orphanet:2199 biolink:Disease Epidermolytic palmoplantar keratoderma UniProtKB:P04264 biolink:Protein UniProtKB:P35527 biolink:Protein UniProtKB:P08779 biolink:Protein Orphanet:251863 biolink:Disease Desmoplastic/nodular medulloblastoma UniProtKB:Q9UMX1 biolink:Protein Orphanet:2198 biolink:Disease Palmoplantar keratoderma-esophageal carcinoma syndrome UniProtKB:Q6PJF5 biolink:Protein Orphanet:251858 biolink:Disease Medulloblastoma with extensive nodularity UniProtKB:Q9UMX1 biolink:Protein Orphanet:2202 biolink:Disease Palmoplantar keratoderma-deafness syndrome UniProtKB:P29033 biolink:Protein Orphanet:251899 biolink:Disease Choroid plexus carcinoma UniProtKB:P04637 biolink:Protein Orphanet:251019 biolink:Disease 2q32q33 microdeletion syndrome UniProtKB:Q9UPW6 biolink:Protein Orphanet:251028 biolink:Disease SATB2-associated syndrome due to a chromosomal rearrangement UniProtKB:Q9UPW6 biolink:Protein Orphanet:672 biolink:Disease Pallister-Hall syndrome UniProtKB:P10071 biolink:Protein Orphanet:455 biolink:Disease Superficial epidermolytic ichthyosis UniProtKB:P35908 biolink:Protein Orphanet:251061 biolink:Disease 7q31 microdeletion syndrome UniProtKB:O15409 biolink:Protein Orphanet:251066 biolink:Disease 8p11.2 deletion syndrome UniProtKB:P16157 biolink:Protein Orphanet:251071 biolink:Disease 8p23.1 microdeletion syndrome UniProtKB:P43694 biolink:Protein Orphanet:2273 biolink:Disease Ichthyosis follicularis-alopecia-photophobia syndrome UniProtKB:O43462 biolink:Protein Orphanet:139 biolink:Disease CHILD syndrome UniProtKB:Q15738 biolink:Protein Orphanet:457 biolink:Disease Harlequin ichthyosis UniProtKB:Q86UK0 biolink:Protein Orphanet:251056 biolink:Disease 6q25 microdeletion syndrome UniProtKB:Q8NFD5 biolink:Protein Orphanet:2239 biolink:Disease Familial isolated hypoparathyroidism due to agenesis of parathyroid gland UniProtKB:O75603 biolink:Protein Orphanet:2241 biolink:Disease Megacystis-microcolon-intestinal hypoperistalsis syndrome UniProtKB:P29536 biolink:Protein UniProtKB:P35749 biolink:Protein UniProtKB:P63267 biolink:Protein UniProtKB:Q15746 biolink:Protein Orphanet:250984 biolink:Disease Autosomal recessive Stickler syndrome UniProtKB:P12107 biolink:Protein UniProtKB:P20849 biolink:Protein UniProtKB:Q14055 biolink:Protein UniProtKB:Q14050 biolink:Protein UniProtKB:P58215 biolink:Protein Orphanet:250977 biolink:Disease AICA-ribosiduria UniProtKB:P31939 biolink:Protein Orphanet:2250 biolink:Disease Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome UniProtKB:A6NHR9 biolink:Protein Orphanet:250923 biolink:Disease Isolated aniridia UniProtKB:P26367 biolink:Protein UniProtKB:Q96DX7 biolink:Protein UniProtKB:Q12948 biolink:Protein Orphanet:250972 biolink:Disease Polymicrogyria with optic nerve hypoplasia UniProtKB:Q9NY65 biolink:Protein Orphanet:2255 biolink:Disease Pancreatic hypoplasia-diabetes-congenital heart disease syndrome UniProtKB:Q92908 biolink:Protein Orphanet:251380 biolink:Disease Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome UniProtKB:P68871 biolink:Protein UniProtKB:Q9H165 biolink:Protein UniProtKB:P69891 biolink:Protein UniProtKB:P69892 biolink:Protein UniProtKB:Q13351 biolink:Protein Orphanet:251383 biolink:Disease CK syndrome UniProtKB:Q15738 biolink:Protein Orphanet:251370 biolink:Disease Sickle cell-hemoglobin D disease syndrome UniProtKB:P68871 biolink:Protein Orphanet:251375 biolink:Disease Sickle cell-hemoglobin E disease syndrome UniProtKB:P68871 biolink:Protein Orphanet:251359 biolink:Disease Sickle cell-beta-thalassemia disease syndrome UniProtKB:P68871 biolink:Protein Orphanet:251365 biolink:Disease Sickle cell-hemoglobin C disease syndrome UniProtKB:P68871 biolink:Protein Orphanet:2319 biolink:Disease Juberg-Hayward syndrome UniProtKB:Q56NI9 biolink:Protein Orphanet:251523 biolink:Disease Hyperzincemia and hypercalprotectinemia UniProtKB:O43586 biolink:Protein Orphanet:2315 biolink:Disease Johanson-Blizzard syndrome UniProtKB:Q8IWV7 biolink:Protein Orphanet:251510 biolink:Disease 46,XY partial gonadal dysgenesis UniProtKB:Q8IY37 biolink:Protein UniProtKB:P19544 biolink:Protein UniProtKB:Q9NQL9 biolink:Protein UniProtKB:P48436 biolink:Protein UniProtKB:Q05066 biolink:Protein UniProtKB:Q9NZC7 biolink:Protein UniProtKB:Q8WW38 biolink:Protein UniProtKB:P43694 biolink:Protein UniProtKB:P51843 biolink:Protein UniProtKB:Q13285 biolink:Protein UniProtKB:Q13233 biolink:Protein UniProtKB:P51809 biolink:Protein Orphanet:2309 biolink:Disease Pachyonychia congenita UniProtKB:P08779 biolink:Protein UniProtKB:Q04695 biolink:Protein UniProtKB:P02538 biolink:Protein UniProtKB:P04259 biolink:Protein Orphanet:251393 biolink:Disease Localized junctional epidermolysis bullosa UniProtKB:Q9UMD9 biolink:Protein UniProtKB:P16144 biolink:Protein Orphanet:2307 biolink:Disease IVIC syndrome UniProtKB:Q9UJQ4 biolink:Protein Orphanet:251295 biolink:Disease Pigmented paravenous retinochoroidal atrophy UniProtKB:P82279 biolink:Protein Orphanet:251290 biolink:Disease Parietal foramina with clavicular hypoplasia UniProtKB:P35548 biolink:Protein Orphanet:251287 biolink:Disease Benign concentric annular macular dystrophy UniProtKB:Q17R60 biolink:Protein Orphanet:251282 biolink:Disease Autosomal dominant spastic ataxia type 1 UniProtKB:P23763 biolink:Protein Orphanet:251279 biolink:Disease Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome UniProtKB:Q9BY79 biolink:Protein Orphanet:251274 biolink:Disease Familial hyperaldosteronism type III UniProtKB:P48544 biolink:Protein Orphanet:251262 biolink:Disease Familial osteochondritis dissecans UniProtKB:P16112 biolink:Protein Orphanet:251347 biolink:Disease Ataxia-telangiectasia-like disorder UniProtKB:P49959 biolink:Protein Orphanet:2289 biolink:Disease Neuronal intranuclear inclusion disease UniProtKB:P0DPK4 biolink:Protein Orphanet:2290 biolink:Disease Microvillus inclusion disease UniProtKB:Q9ULV0 biolink:Protein UniProtKB:Q13277 biolink:Protein Orphanet:254857 biolink:Disease Lethal infantile mitochondrial myopathy Orphanet:254864 biolink:Disease Mitochondrial myopathy with reversible cytochrome C oxidase deficiency UniProtKB:O75648 biolink:Protein Orphanet:2662 biolink:Disease Keipert syndrome UniProtKB:O75487 biolink:Protein Orphanet:1475 biolink:Disease Renal coloboma syndrome UniProtKB:Q02962 biolink:Protein Orphanet:2670 biolink:Disease Pierson syndrome UniProtKB:P55268 biolink:Protein Orphanet:254930 biolink:Disease Combined oxidative phosphorylation defect type 7 UniProtKB:Q9H3J6 biolink:Protein Orphanet:254925 biolink:Disease Combined oxidative phosphorylation defect type 4 UniProtKB:P49411 biolink:Protein Orphanet:2697 biolink:Disease Arthrogryposis-renal dysfunction-cholestasis syndrome UniProtKB:Q9H267 biolink:Protein UniProtKB:Q9H9C1 biolink:Protein Orphanet:254920 biolink:Disease Combined oxidative phosphorylation defect type 2 UniProtKB:Q9Y3D3 biolink:Protein Orphanet:254913 biolink:Disease Isolated ATP synthase deficiency UniProtKB:P00846 biolink:Protein UniProtKB:Q96IX5 biolink:Protein UniProtKB:P03928 biolink:Protein UniProtKB:Q8N5M1 biolink:Protein UniProtKB:P56381 biolink:Protein UniProtKB:P25705 biolink:Protein UniProtKB:Q5TC12 biolink:Protein UniProtKB:P30049 biolink:Protein Orphanet:255182 biolink:Disease Pyruvate dehydrogenase E3-binding protein deficiency UniProtKB:O00330 biolink:Protein Orphanet:2701 biolink:Disease Noonan syndrome-like disorder with loose anagen hair UniProtKB:P62140 biolink:Protein UniProtKB:Q9UQ13 biolink:Protein Orphanet:255138 biolink:Disease Pyruvate dehydrogenase E1-beta deficiency UniProtKB:P11177 biolink:Protein Orphanet:255132 biolink:Disease Adult-onset autosomal recessive sideroblastic anemia UniProtKB:Q86SX6 biolink:Protein Orphanet:2698 biolink:Disease Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome UniProtKB:P29033 biolink:Protein Orphanet:254886 biolink:Disease Autosomal recessive progressive external ophthalmoplegia UniProtKB:P54098 biolink:Protein UniProtKB:O00142 biolink:Protein Orphanet:254881 biolink:Disease Spinocerebellar ataxia with epilepsy UniProtKB:P54098 biolink:Protein Orphanet:254875 biolink:Disease Mitochondrial DNA depletion syndrome, myopathic form UniProtKB:O00142 biolink:Protein Orphanet:254905 biolink:Disease Isolated cytochrome C oxidase deficiency UniProtKB:Q12887 biolink:Protein UniProtKB:P00395 biolink:Protein UniProtKB:P00403 biolink:Protein UniProtKB:P00414 biolink:Protein UniProtKB:P14854 biolink:Protein UniProtKB:Q96I36 biolink:Protein UniProtKB:P13073 biolink:Protein UniProtKB:Q5RI15 biolink:Protein UniProtKB:Q9Y2R0 biolink:Protein UniProtKB:P10176 biolink:Protein UniProtKB:Q02221 biolink:Protein UniProtKB:Q6UWS5 biolink:Protein UniProtKB:P20674 biolink:Protein Orphanet:254902 biolink:Disease Renal tubulopathy-encephalopathy-liver failure syndrome UniProtKB:Q9Y276 biolink:Protein Orphanet:254898 biolink:Disease Deafness-encephaloneuropathy-obesity-valvulopathy syndrome UniProtKB:Q5T2R2 biolink:Protein Orphanet:254892 biolink:Disease Autosomal dominant progressive external ophthalmoplegia UniProtKB:P54098 biolink:Protein UniProtKB:Q9UHN1 biolink:Protein UniProtKB:P12235 biolink:Protein UniProtKB:Q96RR1 biolink:Protein UniProtKB:Q7LG56 biolink:Protein Orphanet:2712 biolink:Disease Oculofaciocardiodental syndrome UniProtKB:Q6W2J9 biolink:Protein Orphanet:2717 biolink:Disease Oculotrichoanal syndrome UniProtKB:Q5H8C1 biolink:Protein Orphanet:2704 biolink:Disease Ochoa syndrome UniProtKB:Q8WWQ2 biolink:Protein UniProtKB:O94898 biolink:Protein Orphanet:255210 biolink:Disease Mitochondrial DNA-associated Leigh syndrome UniProtKB:P00846 biolink:Protein UniProtKB:P03886 biolink:Protein UniProtKB:P03891 biolink:Protein UniProtKB:P03897 biolink:Protein UniProtKB:P03905 biolink:Protein UniProtKB:P03915 biolink:Protein UniProtKB:P03923 biolink:Protein Orphanet:255229 biolink:Disease Navajo neurohepatopathy UniProtKB:P39210 biolink:Protein Orphanet:2707 biolink:Disease Oculocerebrofacial syndrome, Kaufman type UniProtKB:Q7Z3V4 biolink:Protein Orphanet:255235 biolink:Disease Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy UniProtKB:Q7LG56 biolink:Protein Orphanet:2710 biolink:Disease Oculodentodigital dysplasia UniProtKB:P17302 biolink:Protein Orphanet:255241 biolink:Disease Leigh syndrome with leukodystrophy UniProtKB:Q9P0J0 biolink:Protein UniProtKB:P31040 biolink:Protein UniProtKB:Q9BZV2 biolink:Protein UniProtKB:Q15526 biolink:Protein UniProtKB:Q7KZN9 biolink:Protein UniProtKB:Q8N183 biolink:Protein UniProtKB:P28331 biolink:Protein UniProtKB:O75306 biolink:Protein UniProtKB:O75489 biolink:Protein UniProtKB:O43181 biolink:Protein UniProtKB:O75251 biolink:Protein UniProtKB:O00217 biolink:Protein UniProtKB:P49821 biolink:Protein UniProtKB:P19404 biolink:Protein UniProtKB:P08559 biolink:Protein UniProtKB:Q5TEU4 biolink:Protein UniProtKB:Q330K2 biolink:Protein UniProtKB:Q9BSH4 biolink:Protein UniProtKB:Q96CU9 biolink:Protein UniProtKB:O43678 biolink:Protein UniProtKB:O95299 biolink:Protein UniProtKB:Q16795 biolink:Protein UniProtKB:Q96DP5 biolink:Protein UniProtKB:Q9Y234 biolink:Protein UniProtKB:P0DJ07 biolink:Protein UniProtKB:O00483 biolink:Protein UniProtKB:P30084 biolink:Protein UniProtKB:Q9UI09 biolink:Protein Orphanet:255249 biolink:Disease Leigh syndrome with nephrotic syndrome UniProtKB:Q96H96 biolink:Protein UniProtKB:Q86YH6 biolink:Protein Orphanet:2728 biolink:Disease Blepharophimosis-intellectual disability syndrome, Ohdo type UniProtKB:P51531 biolink:Protein Orphanet:2721 biolink:Disease Odonto-onycho-dermal dysplasia UniProtKB:Q9GZT5 biolink:Protein Orphanet:260305 biolink:Disease Autosomal recessive sideroblastic anemia UniProtKB:Q96DW6 biolink:Protein UniProtKB:P38646 biolink:Protein Orphanet:2725 biolink:Disease Eye defects-arachnodactyly-cardiopathy syndrome UniProtKB:Q96L58 biolink:Protein Orphanet:2754 biolink:Disease Orofaciodigital syndrome type 6 UniProtKB:Q96BN6 biolink:Protein UniProtKB:O75665 biolink:Protein UniProtKB:Q9P0N5 biolink:Protein UniProtKB:Q2M1P5 biolink:Protein UniProtKB:Q9H799 biolink:Protein UniProtKB:Q6NUS6 biolink:Protein UniProtKB:O43924 biolink:Protein UniProtKB:Q9NS56 biolink:Protein UniProtKB:Q2KHM9 biolink:Protein Orphanet:2753 biolink:Disease Orofaciodigital syndrome type 4 UniProtKB:Q6NUS6 biolink:Protein Orphanet:2752 biolink:Disease Orofaciodigital syndrome type 3 UniProtKB:Q9H6L2 biolink:Protein Orphanet:2751 biolink:Disease Orofaciodigital syndrome type 2 UniProtKB:Q96PY6 biolink:Protein Orphanet:252128 biolink:Disease Malignant peripheral nerve sheath tumor with perineurial differentiation UniProtKB:Q5TCZ1 biolink:Protein UniProtKB:Q92743 biolink:Protein Orphanet:2750 biolink:Disease Orofaciodigital syndrome type 1 UniProtKB:O75665 biolink:Protein Orphanet:661 biolink:Disease Congenital central hypoventilation syndrome UniProtKB:Q99453 biolink:Protein UniProtKB:P14138 biolink:Protein UniProtKB:P39905 biolink:Protein UniProtKB:Q8N1T3 biolink:Protein UniProtKB:P23560 biolink:Protein Orphanet:254361 biolink:Disease Plectin-related limb-girdle muscular dystrophy R17 UniProtKB:Q15149 biolink:Protein Orphanet:2774 biolink:Disease Multicentric carpo-tarsal osteolysis with or without nephropathy UniProtKB:Q9Y5Q3 biolink:Protein Orphanet:2770 biolink:Disease Nasu-Hakola disease UniProtKB:Q9NZC2 biolink:Protein UniProtKB:O43914 biolink:Protein Orphanet:254343 biolink:Disease Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome UniProtKB:Q9NVV4 biolink:Protein Orphanet:254334 biolink:Disease Autosomal recessive intermediate Charcot-Marie-Tooth disease type B UniProtKB:Q15046 biolink:Protein Orphanet:2762 biolink:Disease Progressive osseous heteroplasia UniProtKB:P63092 biolink:Protein Orphanet:252212 biolink:Disease Malignant triton tumor UniProtKB:Q5TCZ1 biolink:Protein UniProtKB:Q92743 biolink:Protein Orphanet:2763 biolink:Disease Osteocraniostenosis UniProtKB:Q96PZ2 biolink:Protein Orphanet:252206 biolink:Disease Melanoma and neural system tumor syndrome UniProtKB:P42771 biolink:Protein Orphanet:252202 biolink:Disease Constitutional mismatch repair deficiency syndrome UniProtKB:P54278 biolink:Protein UniProtKB:P40692 biolink:Protein UniProtKB:P43246 biolink:Protein UniProtKB:P52701 biolink:Protein Orphanet:2792 biolink:Disease Otofaciocervical syndrome UniProtKB:Q99502 biolink:Protein UniProtKB:P15863 biolink:Protein Orphanet:254525 biolink:Disease Temple syndrome due to paternal 14q32.2 microdeletion UniProtKB:P80370 biolink:Protein UniProtKB:A6NKG5 biolink:Protein Orphanet:2796 biolink:Disease Pachydermoperiostosis UniProtKB:Q92959 biolink:Protein UniProtKB:P15428 biolink:Protein Orphanet:254528 biolink:Disease Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion UniProtKB:A6NKG5 biolink:Protein UniProtKB:P80370 biolink:Protein Orphanet:2789 biolink:Disease Lateral meningocele syndrome UniProtKB:Q9UM47 biolink:Protein Orphanet:2788 biolink:Disease Osteoporosis-pseudoglioma syndrome UniProtKB:O75197 biolink:Protein Orphanet:2791 biolink:Disease Otodental syndrome UniProtKB:P11487 biolink:Protein Orphanet:2790 biolink:Disease Endosteal hyperostosis, Worth type UniProtKB:O75197 biolink:Protein Orphanet:1306 biolink:Disease Buschke-Ollendorff syndrome UniProtKB:Q9Y2U8 biolink:Protein Orphanet:2783 biolink:Disease Autosomal dominant osteopetrosis type 1 UniProtKB:O75197 biolink:Protein Orphanet:2780 biolink:Disease Osteopathia striata-cranial sclerosis syndrome UniProtKB:Q5JTC6 biolink:Protein Orphanet:667 biolink:Disease Autosomal recessive malignant osteopetrosis UniProtKB:P51798 biolink:Protein UniProtKB:Q13488 biolink:Protein UniProtKB:O14788 biolink:Protein UniProtKB:Q9Y5X0 biolink:Protein Orphanet:2805 biolink:Disease Partial pancreatic agenesis UniProtKB:Q7RTS3 biolink:Protein UniProtKB:P52945 biolink:Protein Orphanet:254693 biolink:Disease Partial hydatidiform mole UniProtKB:Q8WX94 biolink:Protein UniProtKB:Q587J8 biolink:Protein Orphanet:2807 biolink:Disease Papilloma of choroid plexus UniProtKB:P04637 biolink:Protein Orphanet:678 biolink:Disease Papillon-Lefèvre syndrome UniProtKB:P53634 biolink:Protein Orphanet:254704 biolink:Disease Genetic hyperferritinemia without iron overload UniProtKB:P02792 biolink:Protein Orphanet:254534 biolink:Disease Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation UniProtKB:P80370 biolink:Protein UniProtKB:A6NKG5 biolink:Protein Orphanet:2802 biolink:Disease X-linked sideroblastic anemia and spinocerebellar ataxia UniProtKB:O75027 biolink:Protein Orphanet:254531 biolink:Disease Temple syndrome due to paternal 14q32.2 hypomethylation UniProtKB:A6NKG5 biolink:Protein UniProtKB:P80370 biolink:Protein Orphanet:254688 biolink:Disease Complete hydatidiform mole UniProtKB:Q8WX94 biolink:Protein UniProtKB:Q587J8 biolink:Protein UniProtKB:Q5TIA1 biolink:Protein UniProtKB:Q8N6T0 biolink:Protein Orphanet:619 biolink:Disease NON RARE IN EUROPE: Primary ovarian failure UniProtKB:P05111 biolink:Protein UniProtKB:O43196 biolink:Protein UniProtKB:O00264 biolink:Protein UniProtKB:Q14565 biolink:Protein UniProtKB:Q8WVV4 biolink:Protein UniProtKB:Q06787 biolink:Protein UniProtKB:O60879 biolink:Protein UniProtKB:O95972 biolink:Protein UniProtKB:P58012 biolink:Protein UniProtKB:P23945 biolink:Protein UniProtKB:P22888 biolink:Protein UniProtKB:Q13285 biolink:Protein UniProtKB:O60393 biolink:Protein UniProtKB:Q6QHK4 biolink:Protein UniProtKB:Q9NRA8 biolink:Protein UniProtKB:O60383 biolink:Protein UniProtKB:Q9UJ98 biolink:Protein UniProtKB:A2PYH4 biolink:Protein UniProtKB:Q8N0S2 biolink:Protein UniProtKB:Q9UJA3 biolink:Protein UniProtKB:Q03468 biolink:Protein UniProtKB:Q9NX45 biolink:Protein Orphanet:2498 biolink:Disease Syndactyly type 8 UniProtKB:O43320 biolink:Protein Orphanet:2499 biolink:Disease Metachondromatosis UniProtKB:Q06124 biolink:Protein Orphanet:2500 biolink:Disease Acrogeria UniProtKB:P02461 biolink:Protein Orphanet:2501 biolink:Disease Metaphyseal chondrodysplasia, Spahr type UniProtKB:P45452 biolink:Protein Orphanet:2504 biolink:Disease Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome UniProtKB:Q13950 biolink:Protein Orphanet:2505 biolink:Disease Multiple benign circumferential skin creases on limbs UniProtKB:Q15555 biolink:Protein UniProtKB:P07437 biolink:Protein Orphanet:2510 biolink:Disease Micro syndrome UniProtKB:Q15042 biolink:Protein UniProtKB:Q9H2M9 biolink:Protein UniProtKB:Q9NP72 biolink:Protein UniProtKB:Q96BZ9 biolink:Protein Orphanet:2508 biolink:Disease Corpus callosum agenesis-abnormal genitalia syndrome UniProtKB:Q96QS3 biolink:Protein Orphanet:2514 biolink:Disease Autosomal dominant primary microcephaly UniProtKB:P42658 biolink:Protein UniProtKB:P20700 biolink:Protein Orphanet:2518 biolink:Disease Autosomal recessive chorioretinopathy-microcephaly syndrome UniProtKB:O00444 biolink:Protein UniProtKB:Q96RT7 biolink:Protein UniProtKB:Q9UGJ1 biolink:Protein Orphanet:2524 biolink:Disease Pontocerebellar hypoplasia type 2 UniProtKB:Q8WW01 biolink:Protein UniProtKB:Q7Z6J9 biolink:Protein UniProtKB:Q9BSV6 biolink:Protein UniProtKB:Q8NCE0 biolink:Protein UniProtKB:Q9HD40 biolink:Protein Orphanet:2526 biolink:Disease Microcephaly-lymphedema-chorioretinopathy syndrome UniProtKB:P52732 biolink:Protein Orphanet:2554 biolink:Disease Ear-patella-short stature syndrome UniProtKB:O43929 biolink:Protein UniProtKB:Q9Y5N6 biolink:Protein UniProtKB:Q9H211 biolink:Protein UniProtKB:Q99741 biolink:Protein UniProtKB:Q13415 biolink:Protein UniProtKB:O75496 biolink:Protein UniProtKB:O75419 biolink:Protein Orphanet:2556 biolink:Disease Microphthalmia with linear skin defects syndrome UniProtKB:P53701 biolink:Protein UniProtKB:P24311 biolink:Protein UniProtKB:Q9NX14 biolink:Protein Orphanet:575 biolink:Disease Muckle-Wells syndrome UniProtKB:Q96P20 biolink:Protein Orphanet:2573 biolink:Disease Moyamoya disease UniProtKB:O60610 biolink:Protein UniProtKB:P62736 biolink:Protein UniProtKB:Q63HN8 biolink:Protein Orphanet:2570 biolink:Disease Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome UniProtKB:Q92917 biolink:Protein Orphanet:261183 biolink:Disease 15q11.2 microdeletion syndrome UniProtKB:Q7RTP0 biolink:Protein UniProtKB:Q8N8Q9 biolink:Protein UniProtKB:P23258 biolink:Protein Orphanet:2585 biolink:Disease Ataxia-pancytopenia syndrome UniProtKB:Q8IVG5 biolink:Protein Orphanet:261144 biolink:Disease FOXG1 syndrome due to 14q12 microdeletion UniProtKB:P55316 biolink:Protein Orphanet:2576 biolink:Disease Mulibrey nanism UniProtKB:O94972 biolink:Protein Orphanet:261222 biolink:Disease Distal 16p11.2 microdeletion syndrome UniProtKB:Q9NRF2 biolink:Protein Orphanet:1359 biolink:Disease Carney complex UniProtKB:P10644 biolink:Protein UniProtKB:Q9HCR9 biolink:Protein Orphanet:2593 biolink:Disease Tubular aggregate myopathy UniProtKB:Q96D31 biolink:Protein UniProtKB:Q13586 biolink:Protein UniProtKB:P31415 biolink:Protein Orphanet:261229 biolink:Disease 14q11.2 microduplication syndrome UniProtKB:P55316 biolink:Protein Orphanet:2590 biolink:Disease Spinal muscular atrophy-progressive myoclonic epilepsy syndrome UniProtKB:Q13510 biolink:Protein Orphanet:261190 biolink:Disease 15q14 microdeletion syndrome UniProtKB:O14770 biolink:Protein Orphanet:2588 biolink:Disease Myhre syndrome UniProtKB:Q13485 biolink:Protein Orphanet:261197 biolink:Disease Proximal 16p11.2 microdeletion syndrome UniProtKB:Q9NRF2 biolink:Protein Orphanet:261295 biolink:Disease 20p12.3 microdeletion syndrome UniProtKB:P12643 biolink:Protein Orphanet:261279 biolink:Disease 17q23.1q23.2 microdeletion syndrome UniProtKB:P57082 biolink:Protein Orphanet:261265 biolink:Disease 17q12 microdeletion syndrome UniProtKB:P35680 biolink:Protein UniProtKB:P48742 biolink:Protein Orphanet:2616 biolink:Disease 3M syndrome UniProtKB:Q14999 biolink:Protein UniProtKB:O75147 biolink:Protein UniProtKB:Q9H0W5 biolink:Protein Orphanet:261250 biolink:Disease 16q24.3 microdeletion syndrome UniProtKB:Q6UB99 biolink:Protein Orphanet:2613 biolink:Disease Nail-patella-like renal disease UniProtKB:O60663 biolink:Protein Orphanet:261257 biolink:Disease Distal 17p13.3 microdeletion syndrome UniProtKB:P62258 biolink:Protein Orphanet:2623 biolink:Disease Geleophysic dysplasia UniProtKB:P35555 biolink:Protein UniProtKB:Q86TH1 biolink:Protein UniProtKB:Q9NS15 biolink:Protein Orphanet:261330 biolink:Disease Distal 22q11.2 microdeletion syndrome UniProtKB:P11274 biolink:Protein UniProtKB:P28482 biolink:Protein UniProtKB:P46109 biolink:Protein Orphanet:261323 biolink:Disease 21q22.11q22.12 microdeletion syndrome UniProtKB:Q9NS87 biolink:Protein Orphanet:2639 biolink:Disease Fibular aplasia-complex brachydactyly syndrome UniProtKB:O00238 biolink:Protein UniProtKB:P43026 biolink:Protein Orphanet:261483 biolink:Disease Xq27.3q28 duplication syndrome UniProtKB:Q06787 biolink:Protein Orphanet:2632 biolink:Disease Langer mesomelic dysplasia UniProtKB:O15266 biolink:Protein Orphanet:2646 biolink:Disease Parastremmatic dwarfism UniProtKB:Q9HBA0 biolink:Protein Orphanet:2645 biolink:Disease Osteoglosphonic dysplasia UniProtKB:P11362 biolink:Protein Orphanet:261584 biolink:Disease Familial adenomatous polyposis due to 5q22.2 microdeletion UniProtKB:P25054 biolink:Protein Orphanet:261600 biolink:Disease Alagille syndrome due to 20p12 microdeletion UniProtKB:P78504 biolink:Protein Orphanet:261619 biolink:Disease Alagille syndrome due to a JAG1 point mutation UniProtKB:P78504 biolink:Protein Orphanet:261537 biolink:Disease Mowat-Wilson syndrome due to monosomy 2q22 UniProtKB:O60315 biolink:Protein Orphanet:261552 biolink:Disease Mowat-Wilson syndrome due to a ZEB2 point mutation UniProtKB:O60315 biolink:Protein Orphanet:2636 biolink:Disease Microcephalic osteodysplastic primordial dwarfism types I and III Orphanet:2658 biolink:Disease Lenz-Majewski hyperostotic dwarfism UniProtKB:P48651 biolink:Protein Orphanet:261629 biolink:Disease Alagille syndrome due to a NOTCH2 point mutation UniProtKB:Q04721 biolink:Protein Orphanet:261638 biolink:Disease Okihiro syndrome due to 20q13 microdeletion UniProtKB:Q9UJQ4 biolink:Protein Orphanet:261647 biolink:Disease Okihiro syndrome due to a point mutation UniProtKB:Q9UJQ4 biolink:Protein Orphanet:261652 biolink:Disease Kleefstra syndrome due to a point mutation UniProtKB:Q8NEZ4 biolink:Protein UniProtKB:Q9H9B1 biolink:Protein Orphanet:3057 biolink:Disease Monoamine oxidase A deficiency UniProtKB:P21397 biolink:Protein Orphanet:3047 biolink:Disease Blepharophimosis-intellectual disability syndrome, SBBYS type UniProtKB:Q8WYB5 biolink:Protein Orphanet:3042 biolink:Disease Intellectual disability-cataracts-calcified pinnae-myopathy syndrome UniProtKB:Q9HC78 biolink:Protein Orphanet:263662 biolink:Disease Familial multiple meningioma UniProtKB:Q12824 biolink:Protein UniProtKB:Q9UMX1 biolink:Protein UniProtKB:Q969G3 biolink:Protein UniProtKB:Q10571 biolink:Protein UniProtKB:P01127 biolink:Protein Orphanet:263548 biolink:Disease Peeling skin syndrome type A UniProtKB:Q5D862 biolink:Protein UniProtKB:Q9H2A9 biolink:Protein Orphanet:263553 biolink:Disease Peeling skin syndrome type B UniProtKB:Q15517 biolink:Protein Orphanet:3032 biolink:Disease NPHP3-related Meckel-like syndrome UniProtKB:Q7Z494 biolink:Protein Orphanet:263534 biolink:Disease Acral peeling skin syndrome UniProtKB:P01040 biolink:Protein UniProtKB:O43548 biolink:Protein Orphanet:263516 biolink:Disease Progressive myoclonic epilepsy type 3 UniProtKB:Q96MP8 biolink:Protein Orphanet:263524 biolink:Disease Acute necrotizing encephalopathy of childhood UniProtKB:P23786 biolink:Protein UniProtKB:P49792 biolink:Protein Orphanet:263501 biolink:Disease COG4-CDG UniProtKB:Q9H9E3 biolink:Protein Orphanet:263508 biolink:Disease COG1-CDG UniProtKB:Q8WTW3 biolink:Protein Orphanet:263482 biolink:Disease Spondyloepiphyseal dysplasia, Maroteaux type UniProtKB:Q9HBA0 biolink:Protein Orphanet:3021 biolink:Disease RAPADILINO syndrome UniProtKB:O94761 biolink:Protein Orphanet:263494 biolink:Disease DPM3-CDG UniProtKB:Q9P2X0 biolink:Protein Orphanet:263487 biolink:Disease COG5-CDG UniProtKB:Q9UP83 biolink:Protein Orphanet:263458 biolink:Disease Hyperinsulinism due to INSR deficiency UniProtKB:P06213 biolink:Protein Orphanet:263455 biolink:Disease Hyperinsulinism due to HNF4A deficiency UniProtKB:P41235 biolink:Protein Orphanet:1832 biolink:Disease Lethal osteosclerotic bone dysplasia UniProtKB:Q8IXL6 biolink:Protein Orphanet:3019 biolink:Disease Ramon syndrome UniProtKB:Q96JJ3 biolink:Protein Orphanet:263463 biolink:Disease CHST3-related skeletal dysplasia UniProtKB:Q7LGC8 biolink:Protein Orphanet:263410 biolink:Disease Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome UniProtKB:Q9BZV2 biolink:Protein Orphanet:769 biolink:Disease Rabson-Mendenhall syndrome UniProtKB:P06213 biolink:Protein Orphanet:3005 biolink:Disease Pyle disease UniProtKB:Q6FHJ7 biolink:Protein Orphanet:263347 biolink:Disease MRCS syndrome UniProtKB:O76090 biolink:Protein Orphanet:2990 biolink:Disease Autosomal recessive multiple pterygium syndrome UniProtKB:P07510 biolink:Protein UniProtKB:P11055 biolink:Protein Orphanet:263297 biolink:Disease Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency UniProtKB:P46976 biolink:Protein Orphanet:3138 biolink:Disease Ulnar-mammary syndrome UniProtKB:O15119 biolink:Protein Orphanet:3144 biolink:Disease Schneckenbecken dysplasia UniProtKB:Q9NTN3 biolink:Protein UniProtKB:O15357 biolink:Protein Orphanet:798 biolink:Disease Schinzel-Giedion syndrome UniProtKB:Q9Y6X0 biolink:Protein Orphanet:3115 biolink:Disease Roussy-Lévy syndrome UniProtKB:Q01453 biolink:Protein UniProtKB:P25189 biolink:Protein Orphanet:3102 biolink:Disease Richieri Costa-Pereira syndrome UniProtKB:P38919 biolink:Protein Orphanet:3107 biolink:Disease Autosomal dominant Robinow syndrome UniProtKB:Q92997 biolink:Protein UniProtKB:P41221 biolink:Protein UniProtKB:O14640 biolink:Protein UniProtKB:Q14332 biolink:Protein Orphanet:3109 biolink:Disease Mayer-Rokitansky-Küster-Hauser syndrome UniProtKB:P56705 biolink:Protein Orphanet:3086 biolink:Disease Autosomal dominant vitreoretinochoroidopathy UniProtKB:O76090 biolink:Protein Orphanet:3088 biolink:Disease Revesz syndrome UniProtKB:Q9BSI4 biolink:Protein Orphanet:3097 biolink:Disease Meacham syndrome UniProtKB:P19544 biolink:Protein Orphanet:3077 biolink:Disease X-linked intellectual disability-psychosis-macroorchidism syndrome UniProtKB:P51608 biolink:Protein Orphanet:3063 biolink:Disease X-linked intellectual disability, Snyder type UniProtKB:P52788 biolink:Protein Orphanet:2886 biolink:Disease TARP syndrome UniProtKB:P98175 biolink:Protein Orphanet:2884 biolink:Disease Piebaldism UniProtKB:O43623 biolink:Protein UniProtKB:P10721 biolink:Protein Orphanet:2879 biolink:Disease Phocomelia, Schinzel type UniProtKB:O00755 biolink:Protein Orphanet:268920 biolink:Disease Isolated megalencephaly UniProtKB:Q9P0N9 biolink:Protein Orphanet:268882 biolink:Disease Arnold-Chiari malformation type I UniProtKB:O94907 biolink:Protein Orphanet:268770 biolink:Disease Upper thoracic spina bifida cystica UniProtKB:P11586 biolink:Protein UniProtKB:Q9ULK5 biolink:Protein UniProtKB:O15178 biolink:Protein UniProtKB:Q8TAA9 biolink:Protein UniProtKB:Q9BT04 biolink:Protein UniProtKB:P42898 biolink:Protein Orphanet:268766 biolink:Disease Cervicothoracic spina bifida cystica UniProtKB:Q8TAA9 biolink:Protein UniProtKB:Q9ULK5 biolink:Protein UniProtKB:O15178 biolink:Protein UniProtKB:Q9BT04 biolink:Protein UniProtKB:P42898 biolink:Protein UniProtKB:P11586 biolink:Protein Orphanet:268762 biolink:Disease Cervical spina bifida cystica UniProtKB:Q9ULK5 biolink:Protein UniProtKB:Q9BT04 biolink:Protein UniProtKB:P42898 biolink:Protein UniProtKB:Q8TAA9 biolink:Protein UniProtKB:O15178 biolink:Protein UniProtKB:P11586 biolink:Protein Orphanet:268758 biolink:Disease Lumbosacral spina bifida cystica UniProtKB:Q9ULK5 biolink:Protein UniProtKB:Q9BT04 biolink:Protein UniProtKB:P11586 biolink:Protein UniProtKB:O15178 biolink:Protein UniProtKB:P42898 biolink:Protein UniProtKB:Q8TAA9 biolink:Protein Orphanet:268752 biolink:Disease Thoracolumbosacral spina bifida cystica UniProtKB:Q9ULK5 biolink:Protein UniProtKB:Q9BT04 biolink:Protein UniProtKB:P11586 biolink:Protein UniProtKB:O15178 biolink:Protein UniProtKB:P42898 biolink:Protein UniProtKB:Q8TAA9 biolink:Protein Orphanet:268748 biolink:Disease Total spina bifida cystica UniProtKB:Q9ULK5 biolink:Protein UniProtKB:Q9BT04 biolink:Protein UniProtKB:P11586 biolink:Protein UniProtKB:O15178 biolink:Protein UniProtKB:P42898 biolink:Protein UniProtKB:Q8TAA9 biolink:Protein Orphanet:268740 biolink:Disease Upper thoracic spina bifida aperta UniProtKB:Q9ULK5 biolink:Protein UniProtKB:Q9BT04 biolink:Protein UniProtKB:P11586 biolink:Protein UniProtKB:O15178 biolink:Protein UniProtKB:P42898 biolink:Protein UniProtKB:Q8TAA9 biolink:Protein Orphanet:268823 biolink:Disease Occipital encephalocele UniProtKB:Q9NYF0 biolink:Protein Orphanet:2874 biolink:Disease Phakomatosis pigmentokeratotica UniProtKB:P01112 biolink:Protein Orphanet:2848 biolink:Disease Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome UniProtKB:Q92954 biolink:Protein Orphanet:268384 biolink:Disease Thoracolumbosacral spina bifida aperta UniProtKB:Q9ULK5 biolink:Protein UniProtKB:Q9BT04 biolink:Protein UniProtKB:P11586 biolink:Protein UniProtKB:O15178 biolink:Protein UniProtKB:P42898 biolink:Protein UniProtKB:Q8TAA9 biolink:Protein Orphanet:2855 biolink:Disease Perrault syndrome UniProtKB:O75616 biolink:Protein UniProtKB:P51659 biolink:Protein UniProtKB:Q96RR1 biolink:Protein UniProtKB:P49590 biolink:Protein UniProtKB:Q16740 biolink:Protein UniProtKB:Q15031 biolink:Protein Orphanet:2854 biolink:Disease Fuhrmann syndrome UniProtKB:O00755 biolink:Protein Orphanet:268388 biolink:Disease Lumbosacral spina bifida aperta UniProtKB:Q9ULK5 biolink:Protein UniProtKB:Q9BT04 biolink:Protein UniProtKB:P11586 biolink:Protein UniProtKB:O15178 biolink:Protein UniProtKB:P42898 biolink:Protein UniProtKB:Q8TAA9 biolink:Protein Orphanet:268392 biolink:Disease Cervical spina bifida aperta UniProtKB:Q9ULK5 biolink:Protein UniProtKB:Q9BT04 biolink:Protein UniProtKB:P11586 biolink:Protein UniProtKB:O15178 biolink:Protein UniProtKB:P42898 biolink:Protein UniProtKB:Q8TAA9 biolink:Protein Orphanet:708 biolink:Disease Peters anomaly UniProtKB:Q12948 biolink:Protein UniProtKB:Q16678 biolink:Protein UniProtKB:Q99697 biolink:Protein UniProtKB:P26367 biolink:Protein UniProtKB:Q13461 biolink:Protein Orphanet:268397 biolink:Disease Cervicothoracic spina bifida aperta UniProtKB:Q9ULK5 biolink:Protein UniProtKB:Q9BT04 biolink:Protein UniProtKB:P11586 biolink:Protein UniProtKB:O15178 biolink:Protein UniProtKB:P42898 biolink:Protein UniProtKB:Q8TAA9 biolink:Protein Orphanet:2850 biolink:Disease Alopecia-intellectual disability syndrome UniProtKB:P18564 biolink:Protein UniProtKB:P48449 biolink:Protein UniProtKB:P02765 biolink:Protein Orphanet:268377 biolink:Disease Total spina bifida aperta UniProtKB:Q9BT04 biolink:Protein UniProtKB:P11586 biolink:Protein UniProtKB:O15178 biolink:Protein UniProtKB:P42898 biolink:Protein UniProtKB:Q8TAA9 biolink:Protein UniProtKB:Q9ULK5 biolink:Protein Orphanet:268114 biolink:Disease RAS-associated autoimmune leukoproliferative disease UniProtKB:P01116 biolink:Protein UniProtKB:P01111 biolink:Protein Orphanet:268129 biolink:Disease Spheroid body myopathy UniProtKB:Q9UBF9 biolink:Protein Orphanet:2822 biolink:Disease Autosomal recessive spastic paraplegia type 11 UniProtKB:Q96JI7 biolink:Protein Orphanet:268261 biolink:Disease DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion UniProtKB:Q13627 biolink:Protein Orphanet:2836 biolink:Disease PEHO syndrome UniProtKB:Q12756 biolink:Protein UniProtKB:Q15649 biolink:Protein Orphanet:268162 biolink:Disease Intermediate maple syrup urine disease UniProtKB:P12694 biolink:Protein UniProtKB:P21953 biolink:Protein UniProtKB:P11182 biolink:Protein UniProtKB:Q8N3J5 biolink:Protein Orphanet:268145 biolink:Disease Classic maple syrup urine disease UniProtKB:P12694 biolink:Protein UniProtKB:P21953 biolink:Protein UniProtKB:P11182 biolink:Protein Orphanet:268184 biolink:Disease Thiamine-responsive maple syrup urine disease UniProtKB:P12694 biolink:Protein UniProtKB:P21953 biolink:Protein UniProtKB:P11182 biolink:Protein Orphanet:2833 biolink:Disease Stiff skin syndrome UniProtKB:P35555 biolink:Protein Orphanet:2834 biolink:Disease Wrinkly skin syndrome UniProtKB:Q9Y487 biolink:Protein Orphanet:268173 biolink:Disease Intermittent maple syrup urine disease UniProtKB:P12694 biolink:Protein UniProtKB:P21953 biolink:Protein UniProtKB:P11182 biolink:Protein Orphanet:2969 biolink:Disease Proteus-like syndrome UniProtKB:P60484 biolink:Protein Orphanet:750 biolink:Disease Pseudoachondroplasia UniProtKB:P49747 biolink:Protein Orphanet:1848 biolink:Disease Renal agenesis, bilateral UniProtKB:O14905 biolink:Protein UniProtKB:Q9C091 biolink:Protein UniProtKB:P07949 biolink:Protein UniProtKB:P53708 biolink:Protein UniProtKB:Q9NP95 biolink:Protein UniProtKB:P56159 biolink:Protein Orphanet:740 biolink:Disease Hutchinson-Gilford progeria syndrome UniProtKB:O75844 biolink:Protein UniProtKB:P02545 biolink:Protein Orphanet:2957 biolink:Disease Guttmacher syndrome UniProtKB:P31271 biolink:Protein Orphanet:2924 biolink:Disease Isolated polycystic liver disease UniProtKB:P14314 biolink:Protein UniProtKB:Q9UGP8 biolink:Protein UniProtKB:O75197 biolink:Protein Orphanet:2896 biolink:Disease Pitt-Hopkins syndrome UniProtKB:P15884 biolink:Protein UniProtKB:P15884 biolink:Protein Orphanet:2899 biolink:Disease Brachyolmia-amelogenesis imperfecta syndrome UniProtKB:Q9NS15 biolink:Protein Orphanet:264580 biolink:Disease Glycogen storage disease due to liver phosphorylase kinase deficiency UniProtKB:P46019 biolink:Protein UniProtKB:P15735 biolink:Protein Orphanet:2919 biolink:Disease Orofaciodigital syndrome type 5 UniProtKB:Q5T1V6 biolink:Protein Orphanet:264675 biolink:Disease Hereditary pulmonary alveolar proteinosis UniProtKB:P32927 biolink:Protein UniProtKB:P15509 biolink:Protein Orphanet:3377 biolink:Disease Trismus-pseudocamptodactyly syndrome UniProtKB:P13535 biolink:Protein Orphanet:275777 biolink:Disease Heritable pulmonary arterial hypertension UniProtKB:P37023 biolink:Protein UniProtKB:Q13873 biolink:Protein UniProtKB:P57082 biolink:Protein UniProtKB:P17813 biolink:Protein UniProtKB:Q03135 biolink:Protein UniProtKB:O15198 biolink:Protein UniProtKB:O14649 biolink:Protein UniProtKB:Q9P2K8 biolink:Protein Orphanet:275786 biolink:Disease Drug- or toxin-induced pulmonary arterial hypertension UniProtKB:Q13873 biolink:Protein Orphanet:275798 biolink:Disease Pulmonary arterial hypertension associated with connective tissue disease UniProtKB:P01889 biolink:Protein Orphanet:3363 biolink:Disease Trichomegaly-retina pigmentary degeneration-dwarfism syndrome UniProtKB:Q8IY17 biolink:Protein Orphanet:3366 biolink:Disease Non-syndromic metopic craniosynostosis UniProtKB:P11362 biolink:Protein UniProtKB:Q5H8C1 biolink:Protein Orphanet:3412 biolink:Disease VACTERL with hydrocephalus UniProtKB:Q8NB91 biolink:Protein Orphanet:276152 biolink:Disease Multiple endocrine neoplasia type 4 UniProtKB:P46527 biolink:Protein Orphanet:276066 biolink:Disease Bile acid CoA ligase deficiency and defective amidation UniProtKB:Q9Y2P5 biolink:Protein Orphanet:275872 biolink:Disease Frontotemporal dementia with motor neuron disease UniProtKB:P55072 biolink:Protein UniProtKB:Q13148 biolink:Protein UniProtKB:P35637 biolink:Protein UniProtKB:Q13501 biolink:Protein UniProtKB:Q96LT7 biolink:Protein UniProtKB:Q9UHD2 biolink:Protein UniProtKB:Q8WYQ3 biolink:Protein Orphanet:3384 biolink:Disease Truncus arteriosus UniProtKB:A6NCS4 biolink:Protein UniProtKB:Q9Y4D7 biolink:Protein Orphanet:275864 biolink:Disease Behavioral variant of frontotemporal dementia UniProtKB:Q9NUM4 biolink:Protein UniProtKB:P49768 biolink:Protein UniProtKB:Q9UQN3 biolink:Protein UniProtKB:Q9NZC2 biolink:Protein UniProtKB:P55072 biolink:Protein UniProtKB:P10636 biolink:Protein UniProtKB:P28799 biolink:Protein UniProtKB:Q13501 biolink:Protein UniProtKB:Q96LT7 biolink:Protein Orphanet:3329 biolink:Disease Tibial aplasia-ectrodactyly syndrome UniProtKB:Q7RTU4 biolink:Protein Orphanet:3322 biolink:Disease Hoyeraal-Hreidarsson syndrome UniProtKB:O60832 biolink:Protein UniProtKB:O14746 biolink:Protein UniProtKB:Q9BSI4 biolink:Protein UniProtKB:Q9NZ71 biolink:Protein UniProtKB:Q96AP0 biolink:Protein UniProtKB:O95453 biolink:Protein Orphanet:275555 biolink:Disease Preeclampsia UniProtKB:P17948 biolink:Protein UniProtKB:Q6ZVD7 biolink:Protein UniProtKB:Q9Y5Q5 biolink:Protein Orphanet:275517 biolink:Disease Autoimmune lymphoproliferative syndrome with recurrent viral infections UniProtKB:Q14790 biolink:Protein Orphanet:3352 biolink:Disease Tricho-dento-osseous syndrome UniProtKB:O60479 biolink:Protein Orphanet:3342 biolink:Disease Arterial tortuosity syndrome UniProtKB:O95528 biolink:Protein Orphanet:3339 biolink:Disease Toriello-Lacassie-Droste syndrome UniProtKB:P01116 biolink:Protein Orphanet:3338 biolink:Disease Toriello-Carey syndrome UniProtKB:O00571 biolink:Protein Orphanet:3472 biolink:Disease Yunis-Varon syndrome UniProtKB:Q92562 biolink:Protein UniProtKB:Q08AM6 biolink:Protein Orphanet:3319 biolink:Disease Congenital amegakaryocytic thrombocytopenia UniProtKB:P40225 biolink:Protein UniProtKB:P40238 biolink:Protein Orphanet:3473 biolink:Disease Zimmermann-Laband syndrome UniProtKB:Q9UGI6 biolink:Protein UniProtKB:P21281 biolink:Protein UniProtKB:O95259 biolink:Protein Orphanet:3459 biolink:Disease Wilson-Turner syndrome UniProtKB:Q9BY41 biolink:Protein UniProtKB:Q9Y4W2 biolink:Protein Orphanet:3464 biolink:Disease Woodhouse-Sakati syndrome UniProtKB:Q5H9S7 biolink:Protein Orphanet:2995 biolink:Disease Baraitser-Winter cerebrofrontofacial syndrome UniProtKB:P60709 biolink:Protein UniProtKB:P63261 biolink:Protein Orphanet:3243 biolink:Disease Sweet syndrome UniProtKB:O15553 biolink:Protein Orphanet:1827 biolink:Disease Acromelic frontonasal dysplasia UniProtKB:Q9HCJ5 biolink:Protein Orphanet:268973 biolink:Disease Isolated focal cortical dysplasia type Ia UniProtKB:P78381 biolink:Protein Orphanet:269008 biolink:Disease Isolated focal cortical dysplasia type IIb UniProtKB:P49815 biolink:Protein UniProtKB:P42345 biolink:Protein UniProtKB:Q92574 biolink:Protein Orphanet:269001 biolink:Disease Isolated focal cortical dysplasia type IIa UniProtKB:P49815 biolink:Protein UniProtKB:P42345 biolink:Protein Orphanet:2460 biolink:Disease Van den Ende-Gupta syndrome UniProtKB:Q96GP6 biolink:Protein Orphanet:3416 biolink:Disease Hyperostosis corticalis generalisata UniProtKB:O75197 biolink:Protein UniProtKB:Q9BQB4 biolink:Protein Orphanet:3453 biolink:Disease Autoimmune polyendocrinopathy type 1 UniProtKB:O43918 biolink:Protein Orphanet:3449 biolink:Disease Weill-Marchesani syndrome UniProtKB:Q9H324 biolink:Protein UniProtKB:P35555 biolink:Protein UniProtKB:Q14767 biolink:Protein Orphanet:269510 biolink:Disease Congenital non-communicating hydrocephalus UniProtKB:Q9P219 biolink:Protein Orphanet:3454 biolink:Disease Intellectual disability-developmental delay-contractures syndrome UniProtKB:Q9NQZ6 biolink:Protein Orphanet:3455 biolink:Disease Wiedemann-Rautenstrauch syndrome UniProtKB:O14802 biolink:Protein Orphanet:269505 biolink:Disease Congenital communicating hydrocephalus UniProtKB:Q2Q1W2 biolink:Protein UniProtKB:O75970 biolink:Protein Orphanet:269215 biolink:Disease Isolated Dandy-Walker malformation without hydrocephalus UniProtKB:Q8N9L1 biolink:Protein UniProtKB:P14543 biolink:Protein UniProtKB:Q15915 biolink:Protein Orphanet:269212 biolink:Disease Isolated Dandy-Walker malformation with hydrocephalus UniProtKB:Q15915 biolink:Protein UniProtKB:Q8N9L1 biolink:Protein Orphanet:1856 biolink:Disease Spondyloperipheral dysplasia-short ulna syndrome UniProtKB:P02458 biolink:Protein Orphanet:280333 biolink:Disease Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 UniProtKB:Q14118 biolink:Protein Orphanet:280325 biolink:Disease Distal monosomy 12p UniProtKB:Q8IUD2 biolink:Protein Orphanet:280293 biolink:Disease Pelizaeus-Merzbacher-like disease due to AIMP1 mutation UniProtKB:Q12904 biolink:Protein Orphanet:280288 biolink:Disease Pelizaeus-Merzbacher-like disease due to HSPD1 mutation UniProtKB:P10809 biolink:Protein Orphanet:280365 biolink:Disease Autosomal semi-dominant severe lipodystrophic laminopathy UniProtKB:P02545 biolink:Protein Orphanet:3197 biolink:Disease Hereditary hyperekplexia UniProtKB:Q8NBU5 biolink:Protein UniProtKB:P23415 biolink:Protein UniProtKB:P48167 biolink:Protein UniProtKB:Q9NQX3 biolink:Protein UniProtKB:Q9Y345 biolink:Protein Orphanet:3193 biolink:Disease Supravalvular aortic stenosis UniProtKB:P15502 biolink:Protein Orphanet:280356 biolink:Disease PLIN1-related familial partial lipodystrophy UniProtKB:O60240 biolink:Protein Orphanet:280406 biolink:Disease Familial steroid-resistant nephrotic syndrome with sensorineural deafness UniProtKB:Q9Y2Z9 biolink:Protein Orphanet:280384 biolink:Disease Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome UniProtKB:O94905 biolink:Protein Orphanet:280397 biolink:Disease Familial Alzheimer-like prion disease UniProtKB:P04156 biolink:Protein Orphanet:280576 biolink:Disease Nestor-Guillermo progeria syndrome UniProtKB:O75531 biolink:Protein Orphanet:3220 biolink:Disease Deafness-enamel hypoplasia-nail defects syndrome UniProtKB:O43933 biolink:Protein UniProtKB:Q13608 biolink:Protein Orphanet:280586 biolink:Disease Chondrodysplasia with joint dislocations, gPAPP type UniProtKB:Q9NX62 biolink:Protein Orphanet:280553 biolink:Disease Fatal infantile hypertonic myofibrillar myopathy UniProtKB:P02511 biolink:Protein Orphanet:280558 biolink:Disease Warsaw breakage syndrome UniProtKB:Q96FC9 biolink:Protein Orphanet:647 biolink:Disease Nijmegen breakage syndrome UniProtKB:O60934 biolink:Protein Orphanet:279943 biolink:Disease Hereditary neutrophilia UniProtKB:Q99062 biolink:Protein Orphanet:279934 biolink:Disease Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency UniProtKB:Q16854 biolink:Protein Orphanet:3152 biolink:Disease Sclerosteosis UniProtKB:Q9BQB4 biolink:Protein UniProtKB:O75096 biolink:Protein Orphanet:280142 biolink:Disease Severe combined immunodeficiency due to LCK deficiency UniProtKB:P06239 biolink:Protein Orphanet:280133 biolink:Disease Complement component 3 deficiency UniProtKB:P01024 biolink:Protein Orphanet:3163 biolink:Disease SHORT syndrome UniProtKB:P27986 biolink:Protein Orphanet:280110 biolink:Disease NON RARE IN EUROPE: Paget disease of bone UniProtKB:Q9Y6Q6 biolink:Protein UniProtKB:Q13501 biolink:Protein UniProtKB:Q8N1G0 biolink:Protein Orphanet:1479 biolink:Disease Atrial septal defect-atrioventricular conduction defects syndrome UniProtKB:P52952 biolink:Protein Orphanet:3156 biolink:Disease Senior-Loken syndrome UniProtKB:O15078 biolink:Protein UniProtKB:Q9Y283 biolink:Protein UniProtKB:Q15051 biolink:Protein UniProtKB:O15259 biolink:Protein UniProtKB:Q7Z494 biolink:Protein UniProtKB:O75161 biolink:Protein UniProtKB:Q86SQ7 biolink:Protein UniProtKB:Q8NEZ3 biolink:Protein UniProtKB:Q9UPV0 biolink:Protein UniProtKB:Q8TDR0 biolink:Protein Orphanet:280071 biolink:Disease ALG11-CDG UniProtKB:Q2TAA5 biolink:Protein Orphanet:3157 biolink:Disease Septo-optic dysplasia spectrum UniProtKB:Q8NFJ6 biolink:Protein UniProtKB:P48431 biolink:Protein UniProtKB:P11362 biolink:Protein UniProtKB:Q9UBX0 biolink:Protein UniProtKB:P32243 biolink:Protein UniProtKB:P41225 biolink:Protein UniProtKB:Q9HBZ2 biolink:Protein Orphanet:280210 biolink:Disease Pelizaeus-Merzbacher disease, connatal form UniProtKB:P60201 biolink:Protein Orphanet:280219 biolink:Disease Pelizaeus-Merzbacher disease, classic form UniProtKB:P60201 biolink:Protein Orphanet:280200 biolink:Disease Microform holoprosencephaly UniProtKB:P11362 biolink:Protein UniProtKB:Q9UMX1 biolink:Protein UniProtKB:Q13635 biolink:Protein UniProtKB:O95343 biolink:Protein UniProtKB:Q15583 biolink:Protein UniProtKB:O95409 biolink:Protein UniProtKB:P10070 biolink:Protein UniProtKB:P13385 biolink:Protein UniProtKB:O75593 biolink:Protein UniProtKB:P55075 biolink:Protein UniProtKB:Q96F81 biolink:Protein UniProtKB:Q4KMG0 biolink:Protein UniProtKB:Q96S42 biolink:Protein UniProtKB:O00548 biolink:Protein UniProtKB:P54826 biolink:Protein UniProtKB:Q15465 biolink:Protein Orphanet:3175 biolink:Disease X-linked spasticity-intellectual disability-epilepsy syndrome UniProtKB:Q96QS3 biolink:Protein Orphanet:280195 biolink:Disease Septopreoptic holoprosencephaly UniProtKB:Q15468 biolink:Protein UniProtKB:Q13635 biolink:Protein UniProtKB:Q15465 biolink:Protein UniProtKB:O95343 biolink:Protein UniProtKB:Q15583 biolink:Protein UniProtKB:O95409 biolink:Protein UniProtKB:P10070 biolink:Protein UniProtKB:P13385 biolink:Protein UniProtKB:O75593 biolink:Protein UniProtKB:P55075 biolink:Protein UniProtKB:Q96F81 biolink:Protein UniProtKB:Q4KMG0 biolink:Protein UniProtKB:Q96S42 biolink:Protein UniProtKB:O00548 biolink:Protein UniProtKB:P54826 biolink:Protein Orphanet:280183 biolink:Disease Methylmalonic aciduria due to transcobalamin receptor defect UniProtKB:Q9NPF0 biolink:Protein Orphanet:280282 biolink:Disease Pelizaeus-Merzbacher-like disease due to GJC2 mutation UniProtKB:Q5T442 biolink:Protein Orphanet:280270 biolink:Disease Pelizaeus-Merzbacher-like disease Orphanet:280234 biolink:Disease Null syndrome UniProtKB:P60201 biolink:Protein Orphanet:1855 biolink:Disease Spondyloenchondrodysplasia UniProtKB:P13686 biolink:Protein Orphanet:280224 biolink:Disease Pelizaeus-Merzbacher disease, transitional form UniProtKB:P60201 biolink:Protein Orphanet:1797 biolink:Disease Autosomal dominant spondylocostal dysostosis UniProtKB:O95947 biolink:Protein Orphanet:280229 biolink:Disease Pelizaeus-Merzbacher disease in female carriers UniProtKB:P60201 biolink:Protein Orphanet:276580 biolink:Disease Autosomal dominant hyperinsulinism due to Kir6.2 deficiency UniProtKB:Q14654 biolink:Protein Orphanet:3258 biolink:Disease Cenani-Lenz syndrome UniProtKB:P25054 biolink:Protein UniProtKB:O75096 biolink:Protein Orphanet:276575 biolink:Disease Autosomal dominant hyperinsulinism due to SUR1 deficiency UniProtKB:Q09428 biolink:Protein Orphanet:276598 biolink:Disease Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency UniProtKB:Q09428 biolink:Protein Orphanet:276603 biolink:Disease Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency UniProtKB:Q14654 biolink:Protein Orphanet:276621 biolink:Disease Sporadic pheochromocytoma/secreting paraganglioma UniProtKB:O14521 biolink:Protein UniProtKB:P21912 biolink:Protein UniProtKB:Q9Y6K1 biolink:Protein UniProtKB:Q99814 biolink:Protein UniProtKB:P40337 biolink:Protein UniProtKB:P07949 biolink:Protein Orphanet:276630 biolink:Disease Symptomatic form of Coffin-Lowry syndrome in female carriers UniProtKB:P51812 biolink:Protein Orphanet:3275 biolink:Disease Spondylocarpotarsal synostosis UniProtKB:P11055 biolink:Protein UniProtKB:O75369 biolink:Protein Orphanet:425 biolink:Disease Apolipoprotein A-I deficiency UniProtKB:P02647 biolink:Protein UniProtKB:O95477 biolink:Protein Orphanet:3301 biolink:Disease Tetraamelia-multiple malformations syndrome UniProtKB:Q6UXX9 biolink:Protein UniProtKB:P56703 biolink:Protein Orphanet:276198 biolink:Disease Spinocerebellar ataxia type 36 UniProtKB:O00567 biolink:Protein Orphanet:276193 biolink:Disease Spinocerebellar ataxia type 35 UniProtKB:O95932 biolink:Protein Orphanet:3226 biolink:Disease Deafness-lymphedema-leukemia syndrome UniProtKB:P23769 biolink:Protein Orphanet:276183 biolink:Disease Spinocerebellar ataxia type 32 Orphanet:276238 biolink:Disease Machado-Joseph disease type 1 UniProtKB:P54252 biolink:Protein Orphanet:276234 biolink:Disease Non-syndromic male infertility due to sperm motility disorder UniProtKB:Q8TBY9 biolink:Protein UniProtKB:Q8NDM7 biolink:Protein UniProtKB:Q96MT7 biolink:Protein UniProtKB:Q8NEN0 biolink:Protein UniProtKB:Q8NDW8 biolink:Protein UniProtKB:Q96M32 biolink:Protein UniProtKB:Q6ZU64 biolink:Protein UniProtKB:A5D8W1 biolink:Protein UniProtKB:Q5JQC9 biolink:Protein UniProtKB:Q6Q759 biolink:Protein UniProtKB:Q8TC94 biolink:Protein UniProtKB:Q5CZC0 biolink:Protein UniProtKB:Q5T0N1 biolink:Protein UniProtKB:Q8NA56 biolink:Protein UniProtKB:Q8NEC5 biolink:Protein UniProtKB:Q96RN1 biolink:Protein UniProtKB:Q8IYM1 biolink:Protein UniProtKB:Q9P2D7 biolink:Protein UniProtKB:Q96MC2 biolink:Protein UniProtKB:Q9UFH2 biolink:Protein UniProtKB:Q9C093 biolink:Protein Orphanet:276223 biolink:Disease Mucopolysaccharidosis type 6, slowly progressing UniProtKB:P15848 biolink:Protein Orphanet:276212 biolink:Disease Mucopolysaccharidosis type 6, rapidly progressing UniProtKB:P15848 biolink:Protein Orphanet:276244 biolink:Disease Machado-Joseph disease type 3 UniProtKB:P54252 biolink:Protein Orphanet:276241 biolink:Disease Machado-Joseph disease type 2 UniProtKB:P54252 biolink:Protein Orphanet:276280 biolink:Disease Hemihyperplasia-multiple lipomatosis syndrome UniProtKB:P42336 biolink:Protein Orphanet:276399 biolink:Disease Familial multinodular goiter UniProtKB:Q14145 biolink:Protein UniProtKB:Q9UPY3 biolink:Protein Orphanet:3238 biolink:Disease Cardiospondylocarpofacial syndrome UniProtKB:O43318 biolink:Protein Orphanet:276271 biolink:Disease NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia UniProtKB:P02768 biolink:Protein Orphanet:3237 biolink:Disease Multiple synostoses syndrome UniProtKB:P43026 biolink:Protein UniProtKB:Q13253 biolink:Protein UniProtKB:P31371 biolink:Protein Orphanet:276405 biolink:Disease Hyperbiliverdinemia UniProtKB:P53004 biolink:Protein Orphanet:3250 biolink:Disease Proximal symphalangism UniProtKB:P43026 biolink:Protein UniProtKB:Q13253 biolink:Protein Orphanet:3255 biolink:Disease Filippi syndrome UniProtKB:Q8IYA6 biolink:Protein Orphanet:276556 biolink:Disease Hyperinsulinism due to UCP2 deficiency UniProtKB:P55851 biolink:Protein Orphanet:276432 biolink:Disease Ogden syndrome UniProtKB:P41227 biolink:Protein Orphanet:3253 biolink:Disease Cleft lip/palate-ectodermal dysplasia syndrome UniProtKB:Q15223 biolink:Protein Orphanet:276435 biolink:Disease Lower motor neuron syndrome with late-adult onset UniProtKB:Q8WYQ3 biolink:Protein Orphanet:911 biolink:Disease Combined immunodeficiency due to ZAP70 deficiency UniProtKB:P43403 biolink:Protein Orphanet:746 biolink:Disease Mitochondrial trifunctional protein deficiency UniProtKB:P40939 biolink:Protein UniProtKB:P55084 biolink:Protein Orphanet:943 biolink:Disease Malonic aciduria UniProtKB:O95822 biolink:Protein Orphanet:621 biolink:Disease Hereditary methemoglobinemia UniProtKB:P00387 biolink:Protein UniProtKB:P00167 biolink:Protein Orphanet:2089 biolink:Disease Glycogen storage disease due to hepatic glycogen synthase deficiency UniProtKB:P54840 biolink:Protein Orphanet:412 biolink:Disease Dysbetalipoproteinemia UniProtKB:P02649 biolink:Protein Orphanet:743 biolink:Disease Severe hereditary thrombophilia due to congenital protein S deficiency UniProtKB:P07225 biolink:Protein Orphanet:424 biolink:Disease Familial hyperthyroidism due to mutations in TSH receptor UniProtKB:P16473 biolink:Protein Orphanet:325 biolink:Disease Congenital factor II deficiency UniProtKB:P00734 biolink:Protein Orphanet:343 biolink:Disease Hyperimmunoglobulinemia D with periodic fever UniProtKB:Q03426 biolink:Protein Orphanet:572 biolink:Disease Immunodeficiency by defective expression of MHC class II UniProtKB:P48382 biolink:Protein UniProtKB:O14593 biolink:Protein UniProtKB:O00287 biolink:Protein UniProtKB:P33076 biolink:Protein Orphanet:1930 biolink:Disease Herpes simplex virus encephalitis UniProtKB:Q9H1C4 biolink:Protein UniProtKB:O15455 biolink:Protein UniProtKB:Q8IUC6 biolink:Protein UniProtKB:Q13114 biolink:Protein UniProtKB:Q9UHD2 biolink:Protein Orphanet:158 biolink:Disease Systemic primary carnitine deficiency UniProtKB:O76082 biolink:Protein Orphanet:2056 biolink:Disease Essential fructosuria UniProtKB:P50053 biolink:Protein Orphanet:206436 biolink:Disease Infantile Krabbe disease UniProtKB:P07602 biolink:Protein UniProtKB:P54803 biolink:Protein Orphanet:820 biolink:Disease Sneddon syndrome UniProtKB:Q9NZK5 biolink:Protein Orphanet:1945 biolink:Disease Rolandic epilepsy UniProtKB:P18507 biolink:Protein UniProtKB:Q12879 biolink:Protein UniProtKB:O60687 biolink:Protein Orphanet:832 biolink:Disease Succinyl-CoA:3-oxoacid CoA transferase deficiency UniProtKB:P55809 biolink:Protein Orphanet:6 biolink:Disease 3-methylcrotonyl-CoA carboxylase deficiency UniProtKB:Q96RQ3 biolink:Protein UniProtKB:Q9HCC0 biolink:Protein Orphanet:20 biolink:Disease 3-hydroxy-3-methylglutaric aciduria UniProtKB:P35914 biolink:Protein Orphanet:714 biolink:Disease Hemolytic anemia due to diphosphoglycerate mutase deficiency UniProtKB:P07738 biolink:Protein Orphanet:712 biolink:Disease Hemolytic anemia due to glucophosphate isomerase deficiency UniProtKB:P06744 biolink:Protein Orphanet:206546 biolink:Disease Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers UniProtKB:P11532 biolink:Protein Orphanet:206554 biolink:Disease Fukutin-related limb-girdle muscular dystrophy R13 UniProtKB:O75072 biolink:Protein Orphanet:206549 biolink:Disease Anoctamin-5-related limb-girdle muscular dystrophy R12 UniProtKB:Q75V66 biolink:Protein Orphanet:206564 biolink:Disease POMGNT1-related limb-girdle muscular dystrophy R15 UniProtKB:Q8WZA1 biolink:Protein Orphanet:206559 biolink:Disease POMT2-related limb-girdle muscular dystrophy R14 UniProtKB:Q9UKY4 biolink:Protein Orphanet:206580 biolink:Disease Autosomal recessive lower motor neuron disease with childhood onset UniProtKB:O94827 biolink:Protein Orphanet:206443 biolink:Disease Late-infantile/juvenile Krabbe disease UniProtKB:P54803 biolink:Protein Orphanet:206448 biolink:Disease Adult Krabbe disease UniProtKB:P54803 biolink:Protein Orphanet:2680 biolink:Disease Hypomyelination neuropathy-arthrogryposis syndrome UniProtKB:P78357 biolink:Protein UniProtKB:O43306 biolink:Protein UniProtKB:Q8N135 biolink:Protein Orphanet:633 biolink:Disease Laron syndrome UniProtKB:P10912 biolink:Protein Orphanet:478 biolink:Disease Kallmann syndrome UniProtKB:Q6ZP82 biolink:Protein UniProtKB:Q9HC23 biolink:Protein UniProtKB:Q8NFJ6 biolink:Protein UniProtKB:Q9P2D1 biolink:Protein UniProtKB:P56693 biolink:Protein UniProtKB:P11362 biolink:Protein UniProtKB:Q9UBX0 biolink:Protein UniProtKB:P23352 biolink:Protein UniProtKB:P55075 biolink:Protein UniProtKB:Q9BZH6 biolink:Protein UniProtKB:O60243 biolink:Protein UniProtKB:Q14563 biolink:Protein UniProtKB:Q8NFM7 biolink:Protein UniProtKB:O60258 biolink:Protein UniProtKB:Q16828 biolink:Protein UniProtKB:Q9C004 biolink:Protein UniProtKB:Q9NZU0 biolink:Protein UniProtKB:A0PJY2 biolink:Protein UniProtKB:P43146 biolink:Protein UniProtKB:Q8TB73 biolink:Protein UniProtKB:P29371 biolink:Protein UniProtKB:Q6ZP82 biolink:Protein Orphanet:822 biolink:Disease Hereditary spherocytosis UniProtKB:P02730 biolink:Protein UniProtKB:P02549 biolink:Protein UniProtKB:P11277 biolink:Protein UniProtKB:P16157 biolink:Protein UniProtKB:P16452 biolink:Protein Orphanet:910 biolink:Disease Xeroderma pigmentosum UniProtKB:P23025 biolink:Protein UniProtKB:P19447 biolink:Protein UniProtKB:Q01831 biolink:Protein UniProtKB:Q92466 biolink:Protein UniProtKB:Q92889 biolink:Protein UniProtKB:P28715 biolink:Protein UniProtKB:P18074 biolink:Protein Orphanet:229 biolink:Disease Familial aortic dissection UniProtKB:P35749 biolink:Protein Orphanet:279 biolink:Disease NON RARE IN EUROPE: Age-related macular degeneration UniProtKB:P78363 biolink:Protein UniProtKB:P08603 biolink:Protein UniProtKB:P05156 biolink:Protein UniProtKB:P35556 biolink:Protein UniProtKB:Q96RW7 biolink:Protein UniProtKB:Q92743 biolink:Protein UniProtKB:P00751 biolink:Protein UniProtKB:P01024 biolink:Protein UniProtKB:P02748 biolink:Protein UniProtKB:P0C7Q2 biolink:Protein UniProtKB:P49238 biolink:Protein UniProtKB:Q9UBX5 biolink:Protein Orphanet:777 biolink:Disease X-linked non-syndromic intellectual disability UniProtKB:Q9H5V9 biolink:Protein UniProtKB:P51812 biolink:Protein UniProtKB:Q96QS3 biolink:Protein UniProtKB:P11532 biolink:Protein UniProtKB:Q9UET6 biolink:Protein UniProtKB:P31150 biolink:Protein UniProtKB:Q93074 biolink:Protein UniProtKB:Q9BZI7 biolink:Protein UniProtKB:P50052 biolink:Protein UniProtKB:P51814 biolink:Protein UniProtKB:Q92796 biolink:Protein UniProtKB:Q9NZN1 biolink:Protein UniProtKB:O75914 biolink:Protein UniProtKB:P41732 biolink:Protein UniProtKB:Q15052 biolink:Protein UniProtKB:P51508 biolink:Protein UniProtKB:P08247 biolink:Protein UniProtKB:Q9Y462 biolink:Protein UniProtKB:Q96DA2 biolink:Protein UniProtKB:P51610 biolink:Protein UniProtKB:Q9NP73 biolink:Protein UniProtKB:Q9UJV3 biolink:Protein UniProtKB:Q96NR3 biolink:Protein UniProtKB:Q93008 biolink:Protein UniProtKB:O60488 biolink:Protein UniProtKB:P51608 biolink:Protein UniProtKB:Q5JU85 biolink:Protein UniProtKB:Q96T83 biolink:Protein UniProtKB:Q8WXI2 biolink:Protein UniProtKB:Q14CM0 biolink:Protein UniProtKB:A6NNY8 biolink:Protein UniProtKB:P51793 biolink:Protein Orphanet:766 biolink:Disease Hemolytic anemia due to red cell pyruvate kinase deficiency UniProtKB:P30613 biolink:Protein Orphanet:206599 biolink:Disease Isolated asymptomatic elevation of creatine phosphokinase UniProtKB:P56539 biolink:Protein Orphanet:3206 biolink:Disease Stüve-Wiedemann syndrome UniProtKB:P42702 biolink:Protein Orphanet:206583 biolink:Disease Adult polyglucosan body disease UniProtKB:Q04446 biolink:Protein Orphanet:65 biolink:Disease Leber congenital amaurosis UniProtKB:Q70EL2 biolink:Protein UniProtKB:P68371 biolink:Protein UniProtKB:Q9P0W8 biolink:Protein UniProtKB:Q6KF10 biolink:Protein UniProtKB:Q96RY7 biolink:Protein UniProtKB:Q9HAN9 biolink:Protein UniProtKB:Q7Z3Z2 biolink:Protein UniProtKB:Q96NR8 biolink:Protein UniProtKB:Q16518 biolink:Protein UniProtKB:Q96KN7 biolink:Protein UniProtKB:O15078 biolink:Protein UniProtKB:Q9NZN9 biolink:Protein UniProtKB:O00294 biolink:Protein UniProtKB:P82279 biolink:Protein UniProtKB:O43186 biolink:Protein UniProtKB:Q02846 biolink:Protein UniProtKB:P20839 biolink:Protein UniProtKB:Q15051 biolink:Protein UniProtKB:Q86VQ0 biolink:Protein UniProtKB:O60928 biolink:Protein UniProtKB:O95237 biolink:Protein UniProtKB:P49585 biolink:Protein Orphanet:321 biolink:Disease Multiple osteochondromas UniProtKB:Q16394 biolink:Protein UniProtKB:Q93063 biolink:Protein Orphanet:144 biolink:Disease Lynch syndrome UniProtKB:P52701 biolink:Protein UniProtKB:P01116 biolink:Protein UniProtKB:P54277 biolink:Protein UniProtKB:P37173 biolink:Protein UniProtKB:Q9UHC1 biolink:Protein UniProtKB:P43246 biolink:Protein UniProtKB:P16422 biolink:Protein UniProtKB:Q9Y2M0 biolink:Protein UniProtKB:P42336 biolink:Protein UniProtKB:P54278 biolink:Protein UniProtKB:P40692 biolink:Protein Orphanet:110 biolink:Disease Bardet-Biedl syndrome UniProtKB:Q8NFJ9 biolink:Protein UniProtKB:Q8TAM1 biolink:Protein UniProtKB:Q9BXC9 biolink:Protein UniProtKB:Q96RK4 biolink:Protein UniProtKB:Q8N3I7 biolink:Protein UniProtKB:Q8IWZ6 biolink:Protein UniProtKB:Q3SYG4 biolink:Protein UniProtKB:O15078 biolink:Protein UniProtKB:Q13049 biolink:Protein UniProtKB:Q8TAM2 biolink:Protein UniProtKB:Q9H0F7 biolink:Protein UniProtKB:Q9NPJ1 biolink:Protein UniProtKB:Q9NXB0 biolink:Protein UniProtKB:O15259 biolink:Protein UniProtKB:Q6ZW61 biolink:Protein UniProtKB:Q86SQ7 biolink:Protein UniProtKB:O95876 biolink:Protein UniProtKB:Q9NQ48 biolink:Protein UniProtKB:Q9UG01 biolink:Protein UniProtKB:A8MTZ0 biolink:Protein UniProtKB:Q9BW83 biolink:Protein UniProtKB:Q96LB3 biolink:Protein UniProtKB:Q96LK0 biolink:Protein UniProtKB:Q9BY12 biolink:Protein UniProtKB:Q96NL8 biolink:Protein Orphanet:3095 biolink:Disease Atypical Rett syndrome UniProtKB:P51608 biolink:Protein UniProtKB:Q9Y2I2 biolink:Protein UniProtKB:O76039 biolink:Protein UniProtKB:Q14683 biolink:Protein UniProtKB:O75899 biolink:Protein Orphanet:1114 biolink:Disease Aplasia cutis congenita UniProtKB:Q15149 biolink:Protein UniProtKB:P16144 biolink:Protein UniProtKB:Q14692 biolink:Protein UniProtKB:Q9NR61 biolink:Protein UniProtKB:Q9UBT2 biolink:Protein Orphanet:1272 biolink:Disease Aymé-Gripp syndrome UniProtKB:O75444 biolink:Protein Orphanet:208513 biolink:Disease Spinocerebellar ataxia type 29 UniProtKB:Q14643 biolink:Protein Orphanet:208447 biolink:Disease Bilateral generalized polymicrogyria UniProtKB:Q05586 biolink:Protein Orphanet:3051 biolink:Disease Nicolaides-Baraitser syndrome UniProtKB:P51531 biolink:Protein Orphanet:208441 biolink:Disease Bilateral parasagittal parieto-occipital polymicrogyria UniProtKB:Q92562 biolink:Protein Orphanet:2963 biolink:Disease Progeroid syndrome, Petty type UniProtKB:Q6NUK1 biolink:Protein Orphanet:1541 biolink:Disease Craniosynostosis, Boston type UniProtKB:P35548 biolink:Protein Orphanet:2151 biolink:Disease Hirschsprung disease-ganglioneuroblastoma syndrome UniProtKB:Q99453 biolink:Protein Orphanet:209335 biolink:Disease Autosomal dominant adult-onset proximal spinal muscular atrophy UniProtKB:O95292 biolink:Protein Orphanet:209341 biolink:Disease DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy UniProtKB:Q14204 biolink:Protein Orphanet:210110 biolink:Disease Intermediate osteopetrosis UniProtKB:Q13488 biolink:Protein UniProtKB:P51798 biolink:Protein UniProtKB:Q9Y4G2 biolink:Protein Orphanet:210115 biolink:Disease Sterile multifocal osteomyelitis with periostitis and pustulosis UniProtKB:P18510 biolink:Protein Orphanet:209981 biolink:Disease IRIDA syndrome UniProtKB:Q8IU80 biolink:Protein Orphanet:210122 biolink:Disease Congenital alveolar capillary dysplasia UniProtKB:Q12946 biolink:Protein Orphanet:210128 biolink:Disease Urocanic aciduria UniProtKB:Q96N76 biolink:Protein Orphanet:2254 biolink:Disease Pontocerebellar hypoplasia type 1 UniProtKB:Q9UPW5 biolink:Protein UniProtKB:Q99986 biolink:Protein UniProtKB:Q9NQT5 biolink:Protein UniProtKB:Q96B26 biolink:Protein UniProtKB:Q96AG3 biolink:Protein UniProtKB:Q06265 biolink:Protein Orphanet:209951 biolink:Disease Autosomal recessive spastic paraplegia type 18 UniProtKB:O94905 biolink:Protein Orphanet:209967 biolink:Disease Episodic ataxia type 6 UniProtKB:P43003 biolink:Protein Orphanet:209908 biolink:Disease Isolated childhood apraxia of speech UniProtKB:O15409 biolink:Protein Orphanet:209905 biolink:Disease Brain-lung-thyroid syndrome UniProtKB:P43699 biolink:Protein Orphanet:209902 biolink:Disease Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency UniProtKB:P22680 biolink:Protein Orphanet:209893 biolink:Disease NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency UniProtKB:P05543 biolink:Protein Orphanet:209932 biolink:Disease Cone dystrophy with supernormal rod response UniProtKB:Q8TDN2 biolink:Protein Orphanet:209916 biolink:Disease Extraskeletal myxoid chondrosarcoma UniProtKB:Q92734 biolink:Protein UniProtKB:Q01844 biolink:Protein UniProtKB:Q99081 biolink:Protein UniProtKB:Q92570 biolink:Protein UniProtKB:Q92804 biolink:Protein Orphanet:209370 biolink:Disease Severe neonatal-onset encephalopathy with microcephaly UniProtKB:P51608 biolink:Protein Orphanet:209867 biolink:Disease Autosomal dominant rhegmatogenous retinal detachment UniProtKB:P02458 biolink:Protein Orphanet:210571 biolink:Disease Dystonia 16 UniProtKB:O75569 biolink:Protein Orphanet:3286 biolink:Disease Catecholaminergic polymorphic ventricular tachycardia UniProtKB:O14958 biolink:Protein UniProtKB:Q13061 biolink:Protein UniProtKB:Q92736 biolink:Protein UniProtKB:P0DP23 biolink:Protein UniProtKB:P0DP24 biolink:Protein UniProtKB:P0DP25 biolink:Protein UniProtKB:Q5HYJ1 biolink:Protein Orphanet:210548 biolink:Disease Macrocephaly-intellectual disability-autism syndrome UniProtKB:P60484 biolink:Protein UniProtKB:Q14CZ8 biolink:Protein Orphanet:210159 biolink:Disease Adult hepatocellular carcinoma UniProtKB:O15169 biolink:Protein UniProtKB:P42336 biolink:Protein UniProtKB:Q14790 biolink:Protein UniProtKB:P04637 biolink:Protein UniProtKB:Q15198 biolink:Protein UniProtKB:P35222 biolink:Protein UniProtKB:P49815 biolink:Protein UniProtKB:Q92574 biolink:Protein UniProtKB:P01133 biolink:Protein Orphanet:210163 biolink:Disease Congenital lethal myopathy, Compton-North type UniProtKB:Q12860 biolink:Protein Orphanet:210141 biolink:Disease Inherited congenital spastic tetraplegia UniProtKB:Q14678 biolink:Protein UniProtKB:Q99259 biolink:Protein UniProtKB:Q9UEY8 biolink:Protein Orphanet:210144 biolink:Disease Lethal polymalformative syndrome, Boissel type UniProtKB:Q9C0B1 biolink:Protein Orphanet:1063 biolink:Disease Tufted angioma UniProtKB:O95837 biolink:Protein Orphanet:211067 biolink:Disease Episodic ataxia type 5 UniProtKB:O00305 biolink:Protein Orphanet:211017 biolink:Disease Spinocerebellar ataxia type 30 Orphanet:656 biolink:Disease Genetic steroid-resistant nephrotic syndrome UniProtKB:Q86UL8 biolink:Protein UniProtKB:Q86T65 biolink:Protein UniProtKB:O43707 biolink:Protein UniProtKB:Q9Y210 biolink:Protein UniProtKB:P19544 biolink:Protein UniProtKB:Q01955 biolink:Protein UniProtKB:O60500 biolink:Protein UniProtKB:Q9NP85 biolink:Protein UniProtKB:Q02962 biolink:Protein UniProtKB:Q9P212 biolink:Protein UniProtKB:Q27J81 biolink:Protein UniProtKB:Q9Y5K6 biolink:Protein UniProtKB:Q12965 biolink:Protein UniProtKB:Q16827 biolink:Protein UniProtKB:Q8N264 biolink:Protein UniProtKB:Q96D53 biolink:Protein UniProtKB:Q9NQW6 biolink:Protein UniProtKB:Q5IJ48 biolink:Protein UniProtKB:P57740 biolink:Protein UniProtKB:Q8N1F7 biolink:Protein UniProtKB:Q92621 biolink:Protein UniProtKB:Q14C86 biolink:Protein UniProtKB:Q9BW27 biolink:Protein UniProtKB:Q8NFH4 biolink:Protein UniProtKB:Q12769 biolink:Protein UniProtKB:Q8WUM0 biolink:Protein UniProtKB:Q0IIM8 biolink:Protein UniProtKB:Q9P2R3 biolink:Protein UniProtKB:P54851 biolink:Protein UniProtKB:P52565 biolink:Protein UniProtKB:O14791 biolink:Protein Orphanet:2122 biolink:Disease Kaposiform hemangioendothelioma UniProtKB:O95837 biolink:Protein Orphanet:2591 biolink:Disease Infantile myofibromatosis UniProtKB:Q9UM47 biolink:Protein UniProtKB:P09619 biolink:Protein Orphanet:35 biolink:Disease Propionic acidemia UniProtKB:P05165 biolink:Protein UniProtKB:P05166 biolink:Protein Orphanet:663 biolink:Disease Mitochondrial DNA-related progressive external ophthalmoplegia Orphanet:220 biolink:Disease Denys-Drash syndrome UniProtKB:P19544 biolink:Protein Orphanet:5 biolink:Disease Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency UniProtKB:P40939 biolink:Protein Orphanet:25 biolink:Disease Glutaryl-CoA dehydrogenase deficiency UniProtKB:Q92947 biolink:Protein Orphanet:618 biolink:Disease Familial melanoma UniProtKB:P11802 biolink:Protein UniProtKB:P42771 biolink:Protein UniProtKB:O75030 biolink:Protein UniProtKB:O14746 biolink:Protein UniProtKB:Q01726 biolink:Protein UniProtKB:Q92560 biolink:Protein UniProtKB:P42772 biolink:Protein UniProtKB:P16455 biolink:Protein UniProtKB:Q9NUX5 biolink:Protein UniProtKB:Q96AP0 biolink:Protein UniProtKB:Q9NYB0 biolink:Protein Orphanet:818 biolink:Disease Smith-Lemli-Opitz syndrome UniProtKB:Q9UBM7 biolink:Protein Orphanet:213504 biolink:Disease Adenocarcinoma of ovary UniProtKB:P08476 biolink:Protein Orphanet:175 biolink:Disease Cartilage-hair hypoplasia Orphanet:42 biolink:Disease Medium chain acyl-CoA dehydrogenase deficiency UniProtKB:P11310 biolink:Protein Orphanet:213524 biolink:Disease Hereditary site-specific ovarian cancer syndrome UniProtKB:P38398 biolink:Protein UniProtKB:P51587 biolink:Protein Orphanet:2066 biolink:Disease Gamma-aminobutyric acid transaminase deficiency UniProtKB:P80404 biolink:Protein Orphanet:300 biolink:Disease Bifunctional enzyme deficiency UniProtKB:P51659 biolink:Protein UniProtKB:Q08426 biolink:Protein Orphanet:213711 biolink:Disease Endometrial stromal sarcoma UniProtKB:P62258 biolink:Protein UniProtKB:Q86VZ6 biolink:Protein UniProtKB:Q15022 biolink:Protein UniProtKB:Q8IVF1 biolink:Protein UniProtKB:A6NNL0 biolink:Protein Orphanet:1572 biolink:Disease Common variable immunodeficiency UniProtKB:P15391 biolink:Protein UniProtKB:Q9Y6W8 biolink:Protein UniProtKB:P20023 biolink:Protein UniProtKB:Q96RJ3 biolink:Protein UniProtKB:P11836 biolink:Protein UniProtKB:P60033 biolink:Protein UniProtKB:Q05655 biolink:Protein UniProtKB:O43508 biolink:Protein UniProtKB:O43508 biolink:Protein UniProtKB:P19838 biolink:Protein UniProtKB:Q00653 biolink:Protein UniProtKB:Q7Z5L9 biolink:Protein UniProtKB:O14836 biolink:Protein Orphanet:3261 biolink:Disease Autoimmune lymphoproliferative syndrome UniProtKB:Q92851 biolink:Protein UniProtKB:P25445 biolink:Protein UniProtKB:P25445 biolink:Protein UniProtKB:P48023 biolink:Protein UniProtKB:Q05655 biolink:Protein UniProtKB:O95267 biolink:Protein Orphanet:2849 biolink:Disease Perlman syndrome UniProtKB:Q8IYB7 biolink:Protein Orphanet:747 biolink:Disease Autoimmune pulmonary alveolar proteinosis UniProtKB:P01911 biolink:Protein Orphanet:2953 biolink:Disease Musculocontractural Ehlers-Danlos syndrome UniProtKB:Q8NCH0 biolink:Protein UniProtKB:Q9UL01 biolink:Protein Orphanet:782 biolink:Disease Axenfeld-Rieger syndrome UniProtKB:Q99697 biolink:Protein UniProtKB:Q99697 biolink:Protein UniProtKB:Q12948 biolink:Protein Orphanet:216718 biolink:Disease Isolated congenitally uncorrected transposition of the great arteries UniProtKB:O60481 biolink:Protein UniProtKB:P27539 biolink:Protein UniProtKB:Q71F56 biolink:Protein UniProtKB:P0CG37 biolink:Protein Orphanet:216729 biolink:Disease Congenitally uncorrected transposition of the great arteries with cardiac malformation UniProtKB:P0CG37 biolink:Protein Orphanet:882 biolink:Disease Tyrosinemia type 1 UniProtKB:P16930 biolink:Protein Orphanet:216796 biolink:Disease Osteogenesis imperfecta type 1 UniProtKB:P07237 biolink:Protein UniProtKB:O94855 biolink:Protein UniProtKB:P02452 biolink:Protein UniProtKB:P08123 biolink:Protein UniProtKB:O43462 biolink:Protein Orphanet:216804 biolink:Disease Osteogenesis imperfecta type 2 UniProtKB:P02452 biolink:Protein UniProtKB:P08123 biolink:Protein UniProtKB:Q32P28 biolink:Protein UniProtKB:O75718 biolink:Protein UniProtKB:P23284 biolink:Protein UniProtKB:Q14696 biolink:Protein Orphanet:216812 biolink:Disease Osteogenesis imperfecta type 3 UniProtKB:P02452 biolink:Protein UniProtKB:P08123 biolink:Protein UniProtKB:Q32P28 biolink:Protein UniProtKB:O75718 biolink:Protein UniProtKB:Q96BA8 biolink:Protein UniProtKB:P23284 biolink:Protein UniProtKB:P50454 biolink:Protein UniProtKB:Q96AY3 biolink:Protein UniProtKB:P36955 biolink:Protein UniProtKB:P04628 biolink:Protein UniProtKB:Q96IP4 biolink:Protein UniProtKB:P13497 biolink:Protein Orphanet:216820 biolink:Disease Osteogenesis imperfecta type 4 UniProtKB:Q9NVV0 biolink:Protein UniProtKB:P02452 biolink:Protein UniProtKB:P08123 biolink:Protein UniProtKB:O75718 biolink:Protein UniProtKB:P23284 biolink:Protein UniProtKB:Q96AY3 biolink:Protein UniProtKB:Q8TDD2 biolink:Protein UniProtKB:P36955 biolink:Protein UniProtKB:P04628 biolink:Protein UniProtKB:P09486 biolink:Protein Orphanet:216828 biolink:Disease Osteogenesis imperfecta type 5 UniProtKB:A6NNB3 biolink:Protein Orphanet:3474 biolink:Disease CHIME syndrome UniProtKB:Q9Y2B2 biolink:Protein Orphanet:216866 biolink:Disease Classic pantothenate kinase-associated neurodegeneration UniProtKB:Q9BZ23 biolink:Protein Orphanet:216873 biolink:Disease Atypical pantothenate kinase-associated neurodegeneration UniProtKB:Q9BZ23 biolink:Protein Orphanet:216972 biolink:Disease Niemann-Pick disease type C, severe perinatal form UniProtKB:O15118 biolink:Protein UniProtKB:P61916 biolink:Protein Orphanet:216978 biolink:Disease Niemann-Pick disease type C, late infantile neurologic onset UniProtKB:O15118 biolink:Protein UniProtKB:P61916 biolink:Protein Orphanet:361 biolink:Disease Familial glucocorticoid deficiency UniProtKB:P49675 biolink:Protein UniProtKB:Q01718 biolink:Protein UniProtKB:Q8TCY5 biolink:Protein UniProtKB:Q9NNW7 biolink:Protein UniProtKB:Q13423 biolink:Protein Orphanet:216975 biolink:Disease Niemann-Pick disease type C, severe early infantile neurologic onset UniProtKB:O15118 biolink:Protein UniProtKB:P61916 biolink:Protein Orphanet:216986 biolink:Disease Niemann-Pick disease type C, adult neurologic onset UniProtKB:O15118 biolink:Protein UniProtKB:P61916 biolink:Protein Orphanet:216981 biolink:Disease Niemann-Pick disease type C, juvenile neurologic onset UniProtKB:O15118 biolink:Protein UniProtKB:P61916 biolink:Protein Orphanet:217012 biolink:Disease Spinocerebellar ataxia type 31 UniProtKB:Q3B7T3 biolink:Protein Orphanet:2088 biolink:Disease Fanconi-Bickel syndrome UniProtKB:P11168 biolink:Protein Orphanet:217031 biolink:Disease NON RARE IN EUROPE: Obesity due to MC3R deficiency UniProtKB:P41968 biolink:Protein Orphanet:217266 biolink:Disease BNAR syndrome UniProtKB:Q5H8C1 biolink:Protein Orphanet:179 biolink:Disease Birdshot chorioretinopathy UniProtKB:P04439 biolink:Protein Orphanet:2584 biolink:Disease Classic mycosis fungoides UniProtKB:P16410 biolink:Protein UniProtKB:P20333 biolink:Protein UniProtKB:P10747 biolink:Protein Orphanet:217093 biolink:Disease Mucopolysaccharidosis type 2, attenuated form UniProtKB:P22304 biolink:Protein Orphanet:3162 biolink:Disease Sézary syndrome UniProtKB:P16410 biolink:Protein UniProtKB:P20333 biolink:Protein UniProtKB:P10747 biolink:Protein Orphanet:217085 biolink:Disease Mucopolysaccharidosis type 2, severe form UniProtKB:P22304 biolink:Protein Orphanet:1451 biolink:Disease CINCA syndrome UniProtKB:Q96P20 biolink:Protein Orphanet:217059 biolink:Disease Isolated congenital digital clubbing UniProtKB:P15428 biolink:Protein Orphanet:217055 biolink:Disease Autosomal recessive intermediate Charcot-Marie-Tooth disease type A UniProtKB:Q8TB36 biolink:Protein Orphanet:217335 biolink:Disease RIN2 syndrome UniProtKB:Q8WYP3 biolink:Protein Orphanet:2745 biolink:Disease Opitz GBBB syndrome UniProtKB:O15344 biolink:Protein Orphanet:217330 biolink:Disease REN-related autosomal dominant tubulointerstitial kidney disease UniProtKB:P00797 biolink:Protein Orphanet:1648 biolink:Disease NON RARE IN EUROPE: Dementia with Lewy body UniProtKB:P04062 biolink:Protein UniProtKB:P37840 biolink:Protein UniProtKB:P02649 biolink:Protein UniProtKB:Q16143 biolink:Protein Orphanet:1171 biolink:Disease Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome UniProtKB:P13637 biolink:Protein Orphanet:217566 biolink:Disease Chronic respiratory distress with surfactant metabolism deficiency UniProtKB:P11686 biolink:Protein Orphanet:217563 biolink:Disease Neonatal acute respiratory distress due to SP-B deficiency UniProtKB:P07988 biolink:Protein Orphanet:217407 biolink:Disease Hereditary hypotrichosis with recurrent skin vesicles UniProtKB:Q14574 biolink:Protein Orphanet:217467 biolink:Disease Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency UniProtKB:P04196 biolink:Protein Orphanet:217390 biolink:Disease Combined immunodeficiency due to DOCK8 deficiency UniProtKB:Q8NF50 biolink:Protein Orphanet:217385 biolink:Disease 17p13.3 microduplication syndrome UniProtKB:P43034 biolink:Protein UniProtKB:P62258 biolink:Protein Orphanet:217396 biolink:Disease Progressive polyneuropathy with bilateral striatal necrosis UniProtKB:Q9HC21 biolink:Protein Orphanet:217371 biolink:Disease Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins UniProtKB:O75648 biolink:Protein Orphanet:217382 biolink:Disease Neurodegenerative syndrome due to cerebral folate transport deficiency UniProtKB:P15328 biolink:Protein Orphanet:217377 biolink:Disease Microduplication Xp11.22p11.23 syndrome UniProtKB:Q5JU85 biolink:Protein Orphanet:217622 biolink:Disease Sensorineural deafness with dilated cardiomyopathy UniProtKB:O95677 biolink:Protein Orphanet:331 biolink:Disease Congenital factor XIII deficiency UniProtKB:P00488 biolink:Protein UniProtKB:P05160 biolink:Protein Orphanet:159 biolink:Disease Carnitine-acylcarnitine translocase deficiency UniProtKB:O43772 biolink:Protein Orphanet:79 biolink:Disease Congenital alpha2-antiplasmin deficiency UniProtKB:P08697 biolink:Protein Orphanet:2157 biolink:Disease Histidinemia UniProtKB:P42357 biolink:Protein Orphanet:220402 biolink:Disease Limited cutaneous systemic sclerosis UniProtKB:Q03135 biolink:Protein UniProtKB:P01911 biolink:Protein UniProtKB:P29279 biolink:Protein UniProtKB:Q13568 biolink:Protein UniProtKB:Q8IZA0 biolink:Protein UniProtKB:P51684 biolink:Protein Orphanet:3124 biolink:Disease Saccharopinuria UniProtKB:Q9UDR5 biolink:Protein Orphanet:220407 biolink:Disease Limited systemic sclerosis UniProtKB:P01911 biolink:Protein Orphanet:220386 biolink:Disease Semilobar holoprosencephaly UniProtKB:Q8N3U4 biolink:Protein UniProtKB:P11362 biolink:Protein UniProtKB:Q14683 biolink:Protein UniProtKB:Q15468 biolink:Protein UniProtKB:Q13635 biolink:Protein UniProtKB:Q15465 biolink:Protein UniProtKB:O95343 biolink:Protein UniProtKB:Q15583 biolink:Protein UniProtKB:O95409 biolink:Protein UniProtKB:P10070 biolink:Protein UniProtKB:P13385 biolink:Protein UniProtKB:O75593 biolink:Protein UniProtKB:P55075 biolink:Protein UniProtKB:Q96F81 biolink:Protein UniProtKB:Q4KMG0 biolink:Protein UniProtKB:Q96S42 biolink:Protein UniProtKB:O00548 biolink:Protein UniProtKB:P54826 biolink:Protein Orphanet:2203 biolink:Disease Hyperlysinemia UniProtKB:Q9UDR5 biolink:Protein Orphanet:220393 biolink:Disease Diffuse cutaneous systemic sclerosis UniProtKB:Q03135 biolink:Protein UniProtKB:P01911 biolink:Protein UniProtKB:P29279 biolink:Protein UniProtKB:Q13568 biolink:Protein UniProtKB:P51684 biolink:Protein Orphanet:332 biolink:Disease Congenital intrinsic factor deficiency UniProtKB:P27352 biolink:Protein Orphanet:220436 biolink:Disease Quebec platelet disorder UniProtKB:P00749 biolink:Protein Orphanet:2195 biolink:Disease Dicarboxylic aminoaciduria UniProtKB:P43005 biolink:Protein Orphanet:220443 biolink:Disease Bleeding diathesis due to thromboxane synthesis deficiency UniProtKB:P21731 biolink:Protein Orphanet:2170 biolink:Disease Methylcobalamin deficiency type cblG UniProtKB:Q99707 biolink:Protein Orphanet:220295 biolink:Disease Xeroderma pigmentosum-Cockayne syndrome complex UniProtKB:P28715 biolink:Protein UniProtKB:Q92889 biolink:Protein UniProtKB:P18074 biolink:Protein UniProtKB:P19447 biolink:Protein Orphanet:414 biolink:Disease Gyrate atrophy of choroid and retina UniProtKB:P04181 biolink:Protein Orphanet:927 biolink:Disease Hyperammonemia due to N-acetylglutamate synthase deficiency UniProtKB:Q8N159 biolink:Protein Orphanet:2880 biolink:Disease Phosphoenolpyruvate carboxykinase deficiency UniProtKB:P35558 biolink:Protein UniProtKB:Q16822 biolink:Protein Orphanet:941 biolink:Disease D-glyceric aciduria UniProtKB:Q8IVS8 biolink:Protein Orphanet:220465 biolink:Disease Laron syndrome with immunodeficiency UniProtKB:P51692 biolink:Protein Orphanet:2843 biolink:Disease Pentosuria UniProtKB:Q7Z4W1 biolink:Protein Orphanet:220497 biolink:Disease Joubert syndrome with renal defect UniProtKB:O15259 biolink:Protein UniProtKB:Q68CZ1 biolink:Protein UniProtKB:Q96Q45 biolink:Protein Orphanet:212 biolink:Disease Cystathioninuria UniProtKB:P32929 biolink:Protein Orphanet:220493 biolink:Disease Joubert syndrome with ocular defect UniProtKB:Q8N157 biolink:Protein UniProtKB:Q9NXB0 biolink:Protein UniProtKB:Q9NRR6 biolink:Protein UniProtKB:Q9BYV8 biolink:Protein UniProtKB:Q8N960 biolink:Protein Orphanet:470 biolink:Disease Lysinuric protein intolerance UniProtKB:Q9UM01 biolink:Protein Orphanet:145 biolink:Disease Hereditary breast and ovarian cancer syndrome UniProtKB:P60484 biolink:Protein UniProtKB:Q06609 biolink:Protein UniProtKB:P51587 biolink:Protein UniProtKB:Q9BX63 biolink:Protein UniProtKB:O96017 biolink:Protein UniProtKB:P04637 biolink:Protein UniProtKB:P49959 biolink:Protein UniProtKB:O60934 biolink:Protein UniProtKB:Q86YC2 biolink:Protein UniProtKB:Q99728 biolink:Protein UniProtKB:O43502 biolink:Protein UniProtKB:Q92878 biolink:Protein UniProtKB:O75771 biolink:Protein UniProtKB:P38398 biolink:Protein Orphanet:2965 biolink:Disease Prolactinoma UniProtKB:Q9H251 biolink:Protein UniProtKB:O00255 biolink:Protein UniProtKB:O00170 biolink:Protein Orphanet:538 biolink:Disease Lymphangioleiomyomatosis UniProtKB:Q92574 biolink:Protein UniProtKB:P49815 biolink:Protein Orphanet:1578 biolink:Disease Pterin-4 alpha-carbinolamine dehydratase deficiency UniProtKB:P61457 biolink:Protein Orphanet:3208 biolink:Disease Isolated succinate-CoQ reductase deficiency UniProtKB:P31040 biolink:Protein UniProtKB:P21912 biolink:Protein UniProtKB:O14521 biolink:Protein UniProtKB:A6NFY7 biolink:Protein Orphanet:221008 biolink:Disease Rothmund-Thomson syndrome type 1 UniProtKB:Q9H1A4 biolink:Protein Orphanet:24 biolink:Disease Fumaric aciduria UniProtKB:P07954 biolink:Protein Orphanet:221016 biolink:Disease Rothmund-Thomson syndrome type 2 UniProtKB:O94761 biolink:Protein Orphanet:1561 biolink:Disease Fatal infantile cytochrome C oxidase deficiency UniProtKB:O75880 biolink:Protein UniProtKB:O43819 biolink:Protein UniProtKB:Q7KZN9 biolink:Protein UniProtKB:Q86WW8 biolink:Protein UniProtKB:Q5JTJ3 biolink:Protein Orphanet:1460 biolink:Disease Isolated complex III deficiency UniProtKB:Q9Y276 biolink:Protein UniProtKB:P00156 biolink:Protein UniProtKB:O14949 biolink:Protein UniProtKB:P14927 biolink:Protein UniProtKB:Q6DKK2 biolink:Protein UniProtKB:P22695 biolink:Protein UniProtKB:P08574 biolink:Protein UniProtKB:Q5U5X0 biolink:Protein UniProtKB:Q9BRT2 biolink:Protein UniProtKB:Q6UW78 biolink:Protein UniProtKB:P47985 biolink:Protein Orphanet:851 biolink:Disease Paris-Trousseau thrombocytopenia UniProtKB:Q01543 biolink:Protein Orphanet:221043 biolink:Disease Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome UniProtKB:Q6SJ93 biolink:Protein Orphanet:221046 biolink:Disease Poikiloderma with neutropenia UniProtKB:Q9BQ65 biolink:Protein Orphanet:745 biolink:Disease Severe hereditary thrombophilia due to congenital protein C deficiency UniProtKB:P04070 biolink:Protein Orphanet:221061 biolink:Disease Familial cerebral cavernous malformation UniProtKB:Q9BSQ5 biolink:Protein UniProtKB:O00522 biolink:Protein UniProtKB:Q9BUL8 biolink:Protein Orphanet:849 biolink:Disease Glanzmann thrombasthenia UniProtKB:P08514 biolink:Protein UniProtKB:P05106 biolink:Protein Orphanet:225154 biolink:Disease Familial infantile bilateral striatal necrosis UniProtKB:P55265 biolink:Protein UniProtKB:P00846 biolink:Protein UniProtKB:P37198 biolink:Protein Orphanet:225123 biolink:Disease Hemochromatosis type 3 UniProtKB:Q9UP52 biolink:Protein Orphanet:221126 biolink:Disease Fowler vasculopathy UniProtKB:Q9UPI3 biolink:Protein Orphanet:221139 biolink:Disease Combined immunodeficiency with faciooculoskeletal anomalies UniProtKB:Q9Y448 biolink:Protein UniProtKB:O00329 biolink:Protein Orphanet:221145 biolink:Disease Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies UniProtKB:Q8N2S1 biolink:Protein UniProtKB:Q8N2S1 biolink:Protein Orphanet:228003 biolink:Disease Severe combined immunodeficiency due to CORO1A deficiency UniProtKB:P31146 biolink:Protein Orphanet:228000 biolink:Disease Idiopathic CD4 lymphocytopenia UniProtKB:Q13432 biolink:Protein Orphanet:842 biolink:Disease Testicular seminomatous germ cell tumor UniProtKB:P10721 biolink:Protein Orphanet:227976 biolink:Disease Autosomal recessive optic atrophy, OPA7 type UniProtKB:Q9H061 biolink:Protein Orphanet:227796 biolink:Disease Fundus albipunctatus UniProtKB:P23942 biolink:Protein UniProtKB:Q92781 biolink:Protein UniProtKB:P12271 biolink:Protein Orphanet:389 biolink:Disease Langerhans cell histiocytosis UniProtKB:Q02750 biolink:Protein UniProtKB:P01111 biolink:Protein UniProtKB:P15056 biolink:Protein Orphanet:228012 biolink:Disease Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome UniProtKB:Q9UM54 biolink:Protein Orphanet:543 biolink:Disease Burkitt lymphoma UniProtKB:P01106 biolink:Protein Orphanet:319 biolink:Disease Skeletal Ewing sarcoma UniProtKB:P11308 biolink:Protein UniProtKB:P50549 biolink:Protein UniProtKB:Q01844 biolink:Protein UniProtKB:Q01543 biolink:Protein UniProtKB:P43268 biolink:Protein Orphanet:227535 biolink:Disease Hereditary breast cancer UniProtKB:P12830 biolink:Protein UniProtKB:P38398 biolink:Protein UniProtKB:P51587 biolink:Protein UniProtKB:Q86YC2 biolink:Protein UniProtKB:O43543 biolink:Protein UniProtKB:B2CW77 biolink:Protein UniProtKB:Q92698 biolink:Protein UniProtKB:O15297 biolink:Protein UniProtKB:Q96BI1 biolink:Protein Orphanet:668 biolink:Disease Osteosarcoma UniProtKB:O96017 biolink:Protein UniProtKB:P06400 biolink:Protein UniProtKB:P04637 biolink:Protein UniProtKB:P04637 biolink:Protein Orphanet:227510 biolink:Disease Multiple system atrophy, cerebellar type UniProtKB:Q96H96 biolink:Protein Orphanet:2030 biolink:Disease Fibrosarcoma UniProtKB:P41212 biolink:Protein UniProtKB:Q16288 biolink:Protein Orphanet:2126 biolink:Disease Solitary fibrous tumor/hemangiopericytoma UniProtKB:P42226 biolink:Protein UniProtKB:Q15742 biolink:Protein Orphanet:758 biolink:Disease Pseudoxanthoma elasticum UniProtKB:O95255 biolink:Protein UniProtKB:P22413 biolink:Protein Orphanet:419 biolink:Disease Hyperprolinemia type 1 UniProtKB:O43272 biolink:Protein Orphanet:1501 biolink:Disease Adrenocortical carcinoma UniProtKB:P04637 biolink:Protein UniProtKB:P04637 biolink:Protein UniProtKB:Q9ULT6 biolink:Protein UniProtKB:P35222 biolink:Protein UniProtKB:P42771 biolink:Protein UniProtKB:O14746 biolink:Protein UniProtKB:P10644 biolink:Protein Orphanet:226316 biolink:Disease Genetic transient congenital hypothyroidism UniProtKB:Q9NRD8 biolink:Protein Orphanet:226307 biolink:Disease Hypothyroidism due to deficient transcription factors involved in pituitary development or function UniProtKB:P28069 biolink:Protein UniProtKB:O75360 biolink:Protein UniProtKB:Q9UBX0 biolink:Protein UniProtKB:Q9UBR4 biolink:Protein UniProtKB:Q969G2 biolink:Protein Orphanet:3273 biolink:Disease Synovial sarcoma UniProtKB:Q15532 biolink:Protein UniProtKB:Q16384 biolink:Protein UniProtKB:Q16385 biolink:Protein Orphanet:503 biolink:Disease Larsen syndrome UniProtKB:O75369 biolink:Protein Orphanet:2478 biolink:Disease Megalencephalic leukoencephalopathy with subcortical cysts UniProtKB:Q15049 biolink:Protein UniProtKB:Q14CZ8 biolink:Protein Orphanet:3337 biolink:Disease Primary Fanconi renotubular syndrome UniProtKB:Q08426 biolink:Protein UniProtKB:P50440 biolink:Protein UniProtKB:Q06495 biolink:Protein UniProtKB:Q330K2 biolink:Protein Orphanet:223 biolink:Disease Nephrogenic diabetes insipidus UniProtKB:P30518 biolink:Protein UniProtKB:P41181 biolink:Protein Orphanet:228423 biolink:Disease Monocytopenia with susceptibility to infections UniProtKB:P23769 biolink:Protein Orphanet:521 biolink:Disease Chronic myeloid leukemia UniProtKB:P11274 biolink:Protein UniProtKB:P00519 biolink:Protein UniProtKB:Q01196 biolink:Protein Orphanet:228415 biolink:Disease 5q35 microduplication syndrome UniProtKB:Q96L73 biolink:Protein Orphanet:132 biolink:Disease Butyrylcholinesterase deficiency UniProtKB:P06276 biolink:Protein Orphanet:228426 biolink:Disease Syndromic multisystem autoimmune disease due to Itch deficiency UniProtKB:Q96J02 biolink:Protein Orphanet:2345 biolink:Disease Isolated Klippel-Feil syndrome UniProtKB:Q9NR23 biolink:Protein UniProtKB:P50221 biolink:Protein UniProtKB:Q6KF10 biolink:Protein Orphanet:1333 biolink:Disease Familial pancreatic carcinoma UniProtKB:P38398 biolink:Protein UniProtKB:P51587 biolink:Protein UniProtKB:P42771 biolink:Protein UniProtKB:Q13485 biolink:Protein UniProtKB:P04637 biolink:Protein UniProtKB:P01116 biolink:Protein UniProtKB:Q86YC2 biolink:Protein UniProtKB:Q8WX93 biolink:Protein UniProtKB:Q5HYI8 biolink:Protein Orphanet:228387 biolink:Disease Spondylo-megaepiphyseal-metaphyseal dysplasia UniProtKB:P78367 biolink:Protein Orphanet:228390 biolink:Disease Frontonasal dysplasia-alopecia-genital anomalies syndrome UniProtKB:Q9H161 biolink:Protein Orphanet:228410 biolink:Disease Polyvalvular heart disease syndrome UniProtKB:Q9NYJ8 biolink:Protein UniProtKB:Q9NYJ8 biolink:Protein Orphanet:228402 biolink:Disease 2q23.1 microdeletion syndrome UniProtKB:Q9P267 biolink:Protein Orphanet:228366 biolink:Disease CLN7 disease UniProtKB:Q8NHS3 biolink:Protein Orphanet:228363 biolink:Disease CLN6 disease UniProtKB:Q9NWW5 biolink:Protein Orphanet:228360 biolink:Disease CLN5 disease UniProtKB:O75503 biolink:Protein Orphanet:228384 biolink:Disease 5q14.3 microdeletion syndrome UniProtKB:Q06413 biolink:Protein Orphanet:228374 biolink:Disease Charcot-Marie-Tooth disease type 2B5 UniProtKB:P07196 biolink:Protein Orphanet:228340 biolink:Disease CLN4A disease UniProtKB:Q9NWW5 biolink:Protein Orphanet:228337 biolink:Disease CLN10 disease UniProtKB:P07339 biolink:Protein Orphanet:228329 biolink:Disease CLN1 disease UniProtKB:P50897 biolink:Protein Orphanet:228354 biolink:Disease CLN8 disease UniProtKB:Q9UBY8 biolink:Protein Orphanet:228349 biolink:Disease CLN2 disease UniProtKB:O14773 biolink:Protein Orphanet:228346 biolink:Disease CLN3 disease UniProtKB:Q13286 biolink:Protein Orphanet:228343 biolink:Disease CLN4B disease UniProtKB:Q9H3Z4 biolink:Protein Orphanet:228302 biolink:Disease Carnitine palmitoyl transferase II deficiency, myopathic form UniProtKB:P23786 biolink:Protein Orphanet:228305 biolink:Disease Carnitine palmitoyl transferase II deficiency, severe infantile form UniProtKB:P23786 biolink:Protein Orphanet:228308 biolink:Disease Carnitine palmitoyl transferase II deficiency, neonatal form UniProtKB:P23786 biolink:Protein Orphanet:3203 biolink:Disease Overhydrated hereditary stomatocytosis UniProtKB:Q02094 biolink:Protein Orphanet:3202 biolink:Disease Dehydrated hereditary stomatocytosis UniProtKB:P02730 biolink:Protein UniProtKB:Q92508 biolink:Protein UniProtKB:O15554 biolink:Protein Orphanet:228140 biolink:Disease Idiopathic ventricular fibrillation, non Brugada type UniProtKB:Q14524 biolink:Protein UniProtKB:P42658 biolink:Protein Orphanet:1018 biolink:Disease X-linked Alport syndrome-diffuse leiomyomatosis UniProtKB:Q14031 biolink:Protein UniProtKB:P29400 biolink:Protein Orphanet:306 biolink:Disease Benign familial infantile epilepsy UniProtKB:Q9UQD0 biolink:Protein UniProtKB:Q99250 biolink:Protein UniProtKB:O43526 biolink:Protein UniProtKB:O43525 biolink:Protein UniProtKB:Q7Z6L0 biolink:Protein Orphanet:328 biolink:Disease Congenital factor X deficiency UniProtKB:P00742 biolink:Protein Orphanet:228174 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2N UniProtKB:P49588 biolink:Protein Orphanet:228169 biolink:Disease Autosomal dominant striatal neurodegeneration UniProtKB:O95263 biolink:Protein Orphanet:2132 biolink:Disease Hemoglobin C disease UniProtKB:P68871 biolink:Protein Orphanet:2133 biolink:Disease Hemoglobin E disease UniProtKB:P68871 biolink:Protein Orphanet:228179 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2M UniProtKB:P50570 biolink:Protein Orphanet:288 biolink:Disease Hereditary elliptocytosis UniProtKB:P02549 biolink:Protein UniProtKB:P11277 biolink:Protein UniProtKB:P11171 biolink:Protein UniProtKB:P04921 biolink:Protein Orphanet:751 biolink:Disease NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency UniProtKB:P15289 biolink:Protein Orphanet:231531 biolink:Disease Hermansky-Pudlak syndrome due to BLOC-1 deficiency UniProtKB:Q96EV8 biolink:Protein UniProtKB:Q8TDH9 biolink:Protein UniProtKB:Q6QNY0 biolink:Protein UniProtKB:Q9UL45 biolink:Protein Orphanet:231512 biolink:Disease Hermansky-Pudlak syndrome due to BLOC-2 deficiency UniProtKB:Q969F9 biolink:Protein UniProtKB:Q9UPZ3 biolink:Protein UniProtKB:Q86YV9 biolink:Protein Orphanet:256 biolink:Disease Early-onset generalized limb-onset dystonia UniProtKB:O14656 biolink:Protein UniProtKB:P19525 biolink:Protein UniProtKB:Q6PI26 biolink:Protein Orphanet:231500 biolink:Disease Hermansky-Pudlak syndrome due to BLOC-3 deficiency UniProtKB:Q92902 biolink:Protein UniProtKB:Q9NQG7 biolink:Protein Orphanet:2073 biolink:Disease Narcolepsy type 1 UniProtKB:O43612 biolink:Protein UniProtKB:P01911 biolink:Protein UniProtKB:P01920 biolink:Protein UniProtKB:Q16653 biolink:Protein UniProtKB:P23510 biolink:Protein UniProtKB:Q96G91 biolink:Protein UniProtKB:Q70YC5 biolink:Protein UniProtKB:P09668 biolink:Protein Orphanet:231401 biolink:Disease Alpha-thalassemia-myelodysplastic syndrome UniProtKB:P46100 biolink:Protein Orphanet:231393 biolink:Disease Beta-thalassemia-X-linked thrombocytopenia syndrome UniProtKB:P15976 biolink:Protein Orphanet:1309 biolink:Disease Medullary sponge kidney UniProtKB:P35680 biolink:Protein Orphanet:231249 biolink:Disease Hemoglobin E-beta-thalassemia syndrome UniProtKB:P68871 biolink:Protein Orphanet:231242 biolink:Disease Hemoglobin C-beta-thalassemia syndrome UniProtKB:P68871 biolink:Protein Orphanet:2197 biolink:Disease Idiopathic hypercalciuria UniProtKB:Q96PN6 biolink:Protein Orphanet:231237 biolink:Disease Delta-beta-thalassemia UniProtKB:P68871 biolink:Protein UniProtKB:P69891 biolink:Protein UniProtKB:P02042 biolink:Protein Orphanet:231226 biolink:Disease Dominant beta-thalassemia UniProtKB:P68871 biolink:Protein Orphanet:231222 biolink:Disease Beta-thalassemia intermedia UniProtKB:P68871 biolink:Protein Orphanet:231214 biolink:Disease Beta-thalassemia major UniProtKB:P68871 biolink:Protein Orphanet:2841 biolink:Disease Familial benign chronic pemphigus UniProtKB:P98194 biolink:Protein Orphanet:231183 biolink:Disease Usher syndrome type 3 UniProtKB:Q5JTW2 biolink:Protein UniProtKB:Q96EG1 biolink:Protein UniProtKB:P58418 biolink:Protein UniProtKB:P12081 biolink:Protein Orphanet:347 biolink:Disease Frasier syndrome UniProtKB:P19544 biolink:Protein Orphanet:231178 biolink:Disease Usher syndrome type 2 UniProtKB:O75445 biolink:Protein UniProtKB:Q8WXG9 biolink:Protein UniProtKB:Q13402 biolink:Protein UniProtKB:Q9P202 biolink:Protein UniProtKB:Q9H5P4 biolink:Protein Orphanet:231154 biolink:Disease Combined immunodeficiency due to partial RAG1 deficiency UniProtKB:P15918 biolink:Protein Orphanet:2596 biolink:Disease Myopathy and diabetes mellitus Orphanet:2966 biolink:Disease Properdin deficiency UniProtKB:P27918 biolink:Protein Orphanet:231160 biolink:Disease Familial cerebral saccular aneurysm UniProtKB:Q8NI99 biolink:Protein UniProtKB:P02461 biolink:Protein UniProtKB:P17813 biolink:Protein UniProtKB:Q03167 biolink:Protein UniProtKB:Q9NS62 biolink:Protein Orphanet:231169 biolink:Disease Usher syndrome type 1 UniProtKB:Q9H251 biolink:Protein UniProtKB:Q9Y6N9 biolink:Protein UniProtKB:Q495M9 biolink:Protein UniProtKB:Q13402 biolink:Protein UniProtKB:Q96QU1 biolink:Protein UniProtKB:O75838 biolink:Protein UniProtKB:B1AK53 biolink:Protein Orphanet:231140 biolink:Disease Silver-Russell syndrome due to an imprinting defect of 11p15 UniProtKB:P01344 biolink:Protein Orphanet:231144 biolink:Disease Silver-Russell syndrome due to 11p15 microduplication UniProtKB:P01344 biolink:Protein Orphanet:231120 biolink:Disease Beckwith-Wiedemann syndrome due to CDKN1C mutation UniProtKB:P49918 biolink:Protein Orphanet:231127 biolink:Disease Beckwith-Wiedemann syndrome due to 11p15 microdeletion Orphanet:231108 biolink:Disease Familial rhabdoid tumor UniProtKB:Q12824 biolink:Protein UniProtKB:P51532 biolink:Protein Orphanet:231117 biolink:Disease Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 UniProtKB:P01344 biolink:Protein Orphanet:231040 biolink:Disease Familial generalized lentiginosis UniProtKB:O94885 biolink:Protein Orphanet:3318 biolink:Disease Essential thrombocythemia UniProtKB:Q6N021 biolink:Protein UniProtKB:O60674 biolink:Protein UniProtKB:P40238 biolink:Protein UniProtKB:P27797 biolink:Protein UniProtKB:Q9UQQ2 biolink:Protein UniProtKB:P04637 biolink:Protein Orphanet:230857 biolink:Disease Ehlers-Danlos/osteogenesis imperfecta syndrome UniProtKB:P02452 biolink:Protein UniProtKB:P08123 biolink:Protein Orphanet:230851 biolink:Disease Cardiac-valvular Ehlers-Danlos syndrome UniProtKB:P08123 biolink:Protein Orphanet:82 biolink:Disease Hereditary thrombophilia due to congenital antithrombin deficiency UniProtKB:P01008 biolink:Protein Orphanet:230839 biolink:Disease Classical-like Ehlers-Danlos syndrome type 1 UniProtKB:P22105 biolink:Protein Orphanet:238269 biolink:Disease AApoAII amyloidosis UniProtKB:P02652 biolink:Protein Orphanet:238446 biolink:Disease 15q11q13 microduplication syndrome UniProtKB:Q05086 biolink:Protein Orphanet:238329 biolink:Disease Severe X-linked mitochondrial encephalomyopathy UniProtKB:O95831 biolink:Protein Orphanet:231568 biolink:Disease Autosomal dominant generalized dystrophic epidermolysis bullosa UniProtKB:Q02388 biolink:Protein Orphanet:1900 biolink:Disease Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency UniProtKB:Q02809 biolink:Protein Orphanet:231671 biolink:Disease Isolated growth hormone deficiency type IB UniProtKB:P01241 biolink:Protein UniProtKB:Q02643 biolink:Protein Orphanet:286 biolink:Disease Vascular Ehlers-Danlos syndrome UniProtKB:P02461 biolink:Protein Orphanet:231679 biolink:Disease Isolated growth hormone deficiency type II UniProtKB:P01241 biolink:Protein UniProtKB:P28069 biolink:Protein Orphanet:231662 biolink:Disease Isolated growth hormone deficiency type IA UniProtKB:P01241 biolink:Protein UniProtKB:Q96LT9 biolink:Protein Orphanet:257 biolink:Disease Epidermolysis bullosa simplex with muscular dystrophy UniProtKB:Q15149 biolink:Protein Orphanet:1901 biolink:Disease Dermatosparaxis Ehlers-Danlos syndrome UniProtKB:O95450 biolink:Protein UniProtKB:Q86TH1 biolink:Protein Orphanet:231720 biolink:Disease Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome UniProtKB:Q9UBR4 biolink:Protein Orphanet:1899 biolink:Disease Arthrochalasia Ehlers-Danlos syndrome UniProtKB:P08123 biolink:Protein UniProtKB:P02452 biolink:Protein Orphanet:839 biolink:Disease Congenital nephrotic syndrome, Finnish type UniProtKB:O60500 biolink:Protein Orphanet:531 biolink:Disease Miller-Dieker syndrome UniProtKB:Q14526 biolink:Protein UniProtKB:P62258 biolink:Protein UniProtKB:P43034 biolink:Protein Orphanet:452 biolink:Disease X-linked lissencephaly with abnormal genitalia UniProtKB:Q96QS3 biolink:Protein Orphanet:238763 biolink:Disease Glaucoma secondary to spherophakia/ectopia lentis and megalocornea UniProtKB:Q14767 biolink:Protein Orphanet:238722 biolink:Disease Familial congenital mirror movements UniProtKB:O96015 biolink:Protein UniProtKB:Q06609 biolink:Protein UniProtKB:P43146 biolink:Protein UniProtKB:O95631 biolink:Protein Orphanet:238769 biolink:Disease 1q44 microdeletion syndrome UniProtKB:Q00839 biolink:Protein Orphanet:238505 biolink:Disease Combined immunodeficiency due to CD27 deficiency UniProtKB:P26842 biolink:Protein Orphanet:238475 biolink:Disease Familial hypercholanemia UniProtKB:P07099 biolink:Protein UniProtKB:Q9UDY2 biolink:Protein UniProtKB:Q14032 biolink:Protein UniProtKB:Q14973 biolink:Protein Orphanet:238455 biolink:Disease Infantile dystonia-parkinsonism UniProtKB:Q01959 biolink:Protein Orphanet:238459 biolink:Disease SLC35A1-CDG UniProtKB:P78382 biolink:Protein Orphanet:238578 biolink:Disease Familial clubfoot due to 17q23.1q23.2 microduplication UniProtKB:P57082 biolink:Protein Orphanet:238557 biolink:Disease Chuvash erythrocytosis UniProtKB:P40337 biolink:Protein Orphanet:238569 biolink:Disease Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome UniProtKB:P22301 biolink:Protein UniProtKB:Q13651 biolink:Protein UniProtKB:Q08334 biolink:Protein Orphanet:238523 biolink:Disease Atypical hypotonia-cystinuria syndrome UniProtKB:Q07837 biolink:Protein UniProtKB:Q4J6C6 biolink:Protein UniProtKB:Q7Z624 biolink:Protein Orphanet:238616 biolink:Disease NON RARE IN EUROPE: Alzheimer disease UniProtKB:Q92673 biolink:Protein UniProtKB:Q8IZY2 biolink:Protein UniProtKB:Q9NZC2 biolink:Protein UniProtKB:P02649 biolink:Protein Orphanet:238613 biolink:Disease Beckwith-Wiedemann syndrome due to NSD1 mutation UniProtKB:Q96L73 biolink:Protein Orphanet:238670 biolink:Disease Isolated thyrotropin-releasing hormone deficiency UniProtKB:P20396 biolink:Protein Orphanet:240071 biolink:Disease Classic progressive supranuclear palsy syndrome UniProtKB:P10636 biolink:Protein Orphanet:240112 biolink:Disease Progressive supranuclear palsy-progressive non-fluent aphasia syndrome UniProtKB:P10636 biolink:Protein Orphanet:240103 biolink:Disease Progressive supranuclear palsy-corticobasal syndrome UniProtKB:P10636 biolink:Protein Orphanet:240094 biolink:Disease Progressive supranuclear palsy-pure akinesia with gait freezing syndrome UniProtKB:P10636 biolink:Protein Orphanet:240085 biolink:Disease Progressive supranuclear palsy-parkinsonism syndrome UniProtKB:P10636 biolink:Protein Orphanet:240760 biolink:Disease Nijmegen breakage syndrome-like disorder UniProtKB:P49959 biolink:Protein UniProtKB:Q92878 biolink:Protein Orphanet:331226 biolink:Disease Susceptibility to infection due to TYK2 deficiency UniProtKB:P29597 biolink:Protein Orphanet:331176 biolink:Disease Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency UniProtKB:Q9BUM1 biolink:Protein Orphanet:331187 biolink:Disease Immunodeficiency due to MASP-2 deficiency UniProtKB:O00187 biolink:Protein Orphanet:331190 biolink:Disease Immunodeficiency due to ficolin3 deficiency UniProtKB:O75636 biolink:Protein Orphanet:331206 biolink:Disease Severe combined immunodeficiency due to complete RAG1/2 deficiency UniProtKB:P15918 biolink:Protein UniProtKB:P55895 biolink:Protein Orphanet:330032 biolink:Disease Hemoglobin Lepore-beta-thalassemia syndrome UniProtKB:P68871 biolink:Protein UniProtKB:P02042 biolink:Protein Orphanet:330041 biolink:Disease Hemoglobin M disease UniProtKB:P69905 biolink:Protein UniProtKB:P68871 biolink:Protein UniProtKB:P69905 biolink:Protein Orphanet:330050 biolink:Disease DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect UniProtKB:O00429 biolink:Protein Orphanet:330054 biolink:Disease Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome UniProtKB:P55789 biolink:Protein Orphanet:329802 biolink:Disease 5p13 microduplication syndrome UniProtKB:Q6KC79 biolink:Protein Orphanet:329475 biolink:Disease Spastic paraplegia-Paget disease of bone syndrome UniProtKB:P55072 biolink:Protein Orphanet:329481 biolink:Disease Lipoprotein glomerulopathy UniProtKB:P02649 biolink:Protein Orphanet:329478 biolink:Disease Adult-onset distal myopathy due to VCP mutation UniProtKB:P55072 biolink:Protein Orphanet:329931 biolink:Disease C3 glomerulonephritis UniProtKB:Q03591 biolink:Protein UniProtKB:Q9BXR6 biolink:Protein UniProtKB:Q02985 biolink:Protein UniProtKB:P36980 biolink:Protein Orphanet:329971 biolink:Disease Generalized juvenile polyposis/juvenile polyposis coli UniProtKB:P36894 biolink:Protein UniProtKB:P17813 biolink:Protein UniProtKB:Q13485 biolink:Protein Orphanet:329967 biolink:Disease Intermittent hydrarthrosis UniProtKB:O15553 biolink:Protein UniProtKB:P19438 biolink:Protein Orphanet:329903 biolink:Disease Immunoglobulin-mediated membranoproliferative glomerulonephritis UniProtKB:P08603 biolink:Protein UniProtKB:P52429 biolink:Protein Orphanet:329308 biolink:Disease Fatty acid hydroxylase-associated neurodegeneration UniProtKB:Q7L5A8 biolink:Protein Orphanet:329314 biolink:Disease Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency UniProtKB:Q16854 biolink:Protein Orphanet:329319 biolink:Disease Thrombocythemia with distal limb defects UniProtKB:P40225 biolink:Protein Orphanet:329284 biolink:Disease Beta-propeller protein-associated neurodegeneration UniProtKB:Q9Y484 biolink:Protein Orphanet:329457 biolink:Disease Distal arthrogryposis type 5D UniProtKB:O95672 biolink:Protein Orphanet:329466 biolink:Disease Autosomal dominant focal dystonia, DYT25 type UniProtKB:P38405 biolink:Protein Orphanet:329469 biolink:Disease Acute megakaryoblastic leukemia without Down syndrome UniProtKB:Q9BZE0 biolink:Protein UniProtKB:O75081 biolink:Protein Orphanet:329336 biolink:Disease Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy UniProtKB:Q7LG56 biolink:Protein UniProtKB:O60930 biolink:Protein Orphanet:329228 biolink:Disease Microcephalic primordial dwarfism due to ZNF335 deficiency UniProtKB:Q9H4Z2 biolink:Protein Orphanet:329224 biolink:Disease Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome UniProtKB:Q6VY07 biolink:Protein Orphanet:329217 biolink:Disease Cerebral sinovenous thrombosis UniProtKB:P00734 biolink:Protein UniProtKB:P12259 biolink:Protein UniProtKB:P22891 biolink:Protein Orphanet:329211 biolink:Disease Autosomal dominant neovascular inflammatory vitreoretinopathy UniProtKB:O15484 biolink:Protein Orphanet:329195 biolink:Disease Developmental delay with autism spectrum disorder and gait instability UniProtKB:O95714 biolink:Protein Orphanet:329191 biolink:Disease Tall stature-long halluces-multiple extra-epiphyses syndrome UniProtKB:P20594 biolink:Protein Orphanet:329178 biolink:Disease Congenital muscular dystrophy with intellectual disability and severe epilepsy UniProtKB:O94777 biolink:Protein Orphanet:329258 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2Q UniProtKB:Q96HY7 biolink:Protein Orphanet:329249 biolink:Disease Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency UniProtKB:Q9NRF2 biolink:Protein Orphanet:329242 biolink:Disease Congenital chronic diarrhea with protein-losing enteropathy UniProtKB:Q9BX97 biolink:Protein UniProtKB:O75907 biolink:Protein Orphanet:329235 biolink:Disease X-linked central congenital hypothyroidism with late-onset testicular enlargement UniProtKB:Q8N6C5 biolink:Protein Orphanet:329173 biolink:Disease Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis UniProtKB:Q9BYM8 biolink:Protein UniProtKB:Q96EP0 biolink:Protein Orphanet:329 biolink:Disease Congenital factor XI deficiency UniProtKB:P03951 biolink:Protein Orphanet:1243 biolink:Disease Best vitelliform macular dystrophy UniProtKB:O76090 biolink:Protein Orphanet:325524 biolink:Disease Classic congenital lipoid adrenal hyperplasia due to STAR deficency UniProtKB:P49675 biolink:Protein Orphanet:325448 biolink:Disease Leydig cell hypoplasia due to LHB deficiency UniProtKB:P01229 biolink:Protein Orphanet:325529 biolink:Disease Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency UniProtKB:P49675 biolink:Protein Orphanet:324977 biolink:Disease Proteasome-associated autoinflammatory syndrome UniProtKB:P28062 biolink:Protein Orphanet:324718 biolink:Disease ABetaA21G amyloidosis UniProtKB:P05067 biolink:Protein Orphanet:324713 biolink:Disease ABeta amyloidosis, Italian type UniProtKB:P05067 biolink:Protein Orphanet:324737 biolink:Disease SRD5A3-CDG UniProtKB:Q9H8P0 biolink:Protein Orphanet:324723 biolink:Disease ABeta amyloidosis, Arctic type UniProtKB:P05067 biolink:Protein Orphanet:324708 biolink:Disease ABeta amyloidosis, Iowa type UniProtKB:P05067 biolink:Protein Orphanet:324703 biolink:Disease ABetaL34V amyloidosis UniProtKB:P05067 biolink:Protein Orphanet:324611 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation UniProtKB:Q12840 biolink:Protein Orphanet:324604 biolink:Disease Classic multiminicore myopathy UniProtKB:Q9NZV5 biolink:Protein UniProtKB:Q8WZ42 biolink:Protein UniProtKB:P12883 biolink:Protein Orphanet:324588 biolink:Disease Familial dyskinesia and facial myokymia UniProtKB:O95622 biolink:Protein Orphanet:324601 biolink:Disease X-linked cleft palate and ankyloglossia UniProtKB:Q9Y458 biolink:Protein Orphanet:324581 biolink:Disease Benign Samaritan congenital myopathy UniProtKB:P21817 biolink:Protein Orphanet:324585 biolink:Disease Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain UniProtKB:P25189 biolink:Protein Orphanet:324569 biolink:Disease Pontocerebellar hypoplasia type 8 UniProtKB:Q9HD42 biolink:Protein Orphanet:324575 biolink:Disease Hyperinsulinism due to HNF1A deficiency UniProtKB:P20823 biolink:Protein Orphanet:324561 biolink:Disease Hypopigmentation-punctate palmoplantar keratoderma syndrome UniProtKB:P22413 biolink:Protein Orphanet:324530 biolink:Disease Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation UniProtKB:P16885 biolink:Protein Orphanet:324535 biolink:Disease Combined oxidative phosphorylation defect type 11 UniProtKB:Q9NWS8 biolink:Protein Orphanet:324525 biolink:Disease Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation Orphanet:324442 biolink:Disease Autosomal recessive axonal neuropathy with neuromyotonia UniProtKB:P49773 biolink:Protein Orphanet:324422 biolink:Disease ALG13-CDG UniProtKB:Q9NP73 biolink:Protein Orphanet:324410 biolink:Disease X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome UniProtKB:O15247 biolink:Protein Orphanet:324321 biolink:Disease Sinoatrial node dysfunction and deafness UniProtKB:Q01668 biolink:Protein Orphanet:324299 biolink:Disease Multiple paragangliomas associated with polycythemia UniProtKB:Q99814 biolink:Protein Orphanet:324294 biolink:Disease T-cell immunodeficiency with epidermodysplasia verruciformis UniProtKB:Q15669 biolink:Protein Orphanet:324290 biolink:Disease Early-onset Lafora body disease UniProtKB:Q9NQV8 biolink:Protein Orphanet:324262 biolink:Disease Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency UniProtKB:Q13255 biolink:Protein Orphanet:319691 biolink:Disease NON RARE IN EUROPE: Partial color blindness, protan type UniProtKB:P04000 biolink:Protein Orphanet:319698 biolink:Disease NON RARE IN EUROPE: Partial color blindness, deutan type UniProtKB:P04001 biolink:Protein Orphanet:319705 biolink:Disease NON RARE IN EUROPE: Parkinson disease UniProtKB:P04062 biolink:Protein Orphanet:320360 biolink:Disease MT-ATP6-related mitochondrial spastic paraplegia UniProtKB:P00846 biolink:Protein Orphanet:320355 biolink:Disease Autosomal dominant spastic paraplegia type 41 Orphanet:320370 biolink:Disease Autosomal recessive spastic paraplegia type 43 UniProtKB:Q9NSK7 biolink:Protein Orphanet:320365 biolink:Disease Autosomal dominant spastic paraplegia type 36 Orphanet:320380 biolink:Disease Autosomal recessive spastic paraplegia type 54 UniProtKB:O94830 biolink:Protein Orphanet:320375 biolink:Disease Autosomal recessive spastic paraplegia type 55 UniProtKB:Q9H3J6 biolink:Protein Orphanet:320391 biolink:Disease Autosomal recessive spastic paraplegia type 46 UniProtKB:Q9HCG7 biolink:Protein Orphanet:320385 biolink:Disease Hereditary sensory and autonomic neuropathy due to TECPR2 mutation UniProtKB:O15040 biolink:Protein Orphanet:320401 biolink:Disease Autosomal recessive spastic paraplegia type 44 UniProtKB:Q5T442 biolink:Protein Orphanet:320396 biolink:Disease Autosomal recessive spastic paraplegia type 45 UniProtKB:P49902 biolink:Protein Orphanet:320411 biolink:Disease Autosomal recessive spastic paraplegia type 56 UniProtKB:Q7Z449 biolink:Protein Orphanet:320406 biolink:Disease Spastic paraplegia-optic atrophy-neuropathy syndrome UniProtKB:Q9NZU1 biolink:Protein UniProtKB:Q9H0B6 biolink:Protein Orphanet:319547 biolink:Disease Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency UniProtKB:P38484 biolink:Protein Orphanet:319519 biolink:Disease Combined oxidative phosphorylation defect type 14 UniProtKB:O95363 biolink:Protein Orphanet:319524 biolink:Disease Combined oxidative phosphorylation defect type 15 UniProtKB:Q96DP5 biolink:Protein Orphanet:319509 biolink:Disease Combined oxidative phosphorylation defect type 9 UniProtKB:P09001 biolink:Protein Orphanet:319514 biolink:Disease Combined oxidative phosphorylation defect type 13 UniProtKB:Q8TCS8 biolink:Protein Orphanet:319589 biolink:Disease Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency UniProtKB:P38484 biolink:Protein Orphanet:319595 biolink:Disease Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency UniProtKB:P42224 biolink:Protein Orphanet:319574 biolink:Disease Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency UniProtKB:P38484 biolink:Protein Orphanet:319581 biolink:Disease Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency UniProtKB:P15260 biolink:Protein Orphanet:319563 biolink:Disease Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency UniProtKB:P05161 biolink:Protein Orphanet:319569 biolink:Disease Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency UniProtKB:P15260 biolink:Protein Orphanet:319552 biolink:Disease Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency UniProtKB:P42701 biolink:Protein Orphanet:319558 biolink:Disease Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency UniProtKB:P29460 biolink:Protein Orphanet:319651 biolink:Disease Constitutional megaloblastic anemia with severe neurologic disease UniProtKB:P00374 biolink:Protein Orphanet:319646 biolink:Disease PGM1-CDG UniProtKB:P36871 biolink:Protein Orphanet:319640 biolink:Disease Retinal macular dystrophy type 2 UniProtKB:O43490 biolink:Protein Orphanet:319635 biolink:Disease Amyloidosis cutis dyschromia UniProtKB:Q14956 biolink:Protein Orphanet:319623 biolink:Disease X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency UniProtKB:P04839 biolink:Protein Orphanet:319612 biolink:Disease X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency UniProtKB:Q9Y6K9 biolink:Protein Orphanet:319600 biolink:Disease Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency UniProtKB:Q02556 biolink:Protein Orphanet:319681 biolink:Disease NON RARE IN EUROPE: Lactase non-persistence in adulthood UniProtKB:P09848 biolink:Protein UniProtKB:Q14566 biolink:Protein Orphanet:319678 biolink:Disease Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome UniProtKB:O75208 biolink:Protein Orphanet:319675 biolink:Disease Microcephalic primordial dwarfism, Dauber type UniProtKB:Q8N4C6 biolink:Protein Orphanet:319671 biolink:Disease Alazami syndrome UniProtKB:Q4G0J3 biolink:Protein Orphanet:319298 biolink:Disease Papillary renal cell carcinoma UniProtKB:P08581 biolink:Protein UniProtKB:O75030 biolink:Protein Orphanet:319303 biolink:Disease Chromophobe renal cell carcinoma UniProtKB:P20823 biolink:Protein Orphanet:319308 biolink:Disease MiT family translocation renal cell carcinoma UniProtKB:Q92733 biolink:Protein UniProtKB:P19532 biolink:Protein UniProtKB:Q9BZE9 biolink:Protein UniProtKB:P19484 biolink:Protein UniProtKB:Q00610 biolink:Protein UniProtKB:P23246 biolink:Protein UniProtKB:Q15233 biolink:Protein Orphanet:319332 biolink:Disease Autosomal recessive myogenic arthrogryposis multiplex congenita UniProtKB:Q8NF91 biolink:Protein Orphanet:319340 biolink:Disease Carney complex-trismus-pseudocamptodactyly syndrome UniProtKB:P13535 biolink:Protein Orphanet:319487 biolink:Disease Familial papillary or follicular thyroid carcinoma UniProtKB:Q9UNW1 biolink:Protein UniProtKB:O00358 biolink:Protein UniProtKB:Q14520 biolink:Protein Orphanet:319480 biolink:Disease Acute myeloid leukemia with CEBPA somatic mutations UniProtKB:P49715 biolink:Protein Orphanet:319504 biolink:Disease Combined oxidative phosphorylation defect type 8 UniProtKB:Q5JTZ9 biolink:Protein Orphanet:319465 biolink:Disease Inherited acute myeloid leukemia UniProtKB:P49715 biolink:Protein UniProtKB:O95932 biolink:Protein UniProtKB:Q5T890 biolink:Protein UniProtKB:P23769 biolink:Protein Orphanet:319462 biolink:Disease Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations UniProtKB:P51587 biolink:Protein Orphanet:319199 biolink:Disease Autosomal recessive spastic paraplegia type 53 UniProtKB:Q8NEZ2 biolink:Protein Orphanet:319160 biolink:Disease Congenital myopathy with internal nuclei and atypical cores UniProtKB:A2IDD5 biolink:Protein Orphanet:319189 biolink:Disease Familial cortical myoclonus UniProtKB:O60936 biolink:Protein Orphanet:319192 biolink:Disease Diencephalic-mesencephalic junction dysplasia UniProtKB:Q9NPG4 biolink:Protein Orphanet:319182 biolink:Disease Wiedemann-Steiner syndrome UniProtKB:Q03164 biolink:Protein Orphanet:317428 biolink:Disease Combined immunodeficiency due to ORAI1 deficiency UniProtKB:Q96D31 biolink:Protein Orphanet:317425 biolink:Disease Severe combined immunodeficiency due to DNA-PKcs deficiency UniProtKB:P78527 biolink:Protein Orphanet:317430 biolink:Disease Combined immunodeficiency due to STIM1 deficiency UniProtKB:Q13586 biolink:Protein Orphanet:317473 biolink:Disease Pancytopenia due to IKZF1 mutations UniProtKB:Q13422 biolink:Protein Orphanet:317476 biolink:Disease X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia UniProtKB:Q9H0U3 biolink:Protein Orphanet:315311 biolink:Disease Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form UniProtKB:P08686 biolink:Protein Orphanet:315306 biolink:Disease Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form UniProtKB:P08686 biolink:Protein Orphanet:314978 biolink:Disease X-linked non progressive cerebellar ataxia UniProtKB:Q16720 biolink:Protein Orphanet:314950 biolink:Disease Primary hypereosinophilic syndrome UniProtKB:P11362 biolink:Protein UniProtKB:Q6UN15 biolink:Protein UniProtKB:P16234 biolink:Protein UniProtKB:P09619 biolink:Protein UniProtKB:P41212 biolink:Protein Orphanet:314918 biolink:Disease Mild Canavan disease UniProtKB:P45381 biolink:Protein Orphanet:314911 biolink:Disease Severe Canavan disease UniProtKB:P45381 biolink:Protein Orphanet:314679 biolink:Disease Cerebrofacioarticular syndrome UniProtKB:Q96JQ0 biolink:Protein UniProtKB:Q6V0I7 biolink:Protein Orphanet:314667 biolink:Disease TMEM165-CDG UniProtKB:Q9HC07 biolink:Protein Orphanet:314689 biolink:Disease Combined immunodeficiency due to STK4 deficiency UniProtKB:Q13043 biolink:Protein Orphanet:314652 biolink:Disease Variant ABeta2M amyloidosis UniProtKB:P61769 biolink:Protein Orphanet:314647 biolink:Disease Non-progressive cerebellar ataxia with intellectual disability UniProtKB:Q9Y6Y1 biolink:Protein UniProtKB:Q01851 biolink:Protein Orphanet:314662 biolink:Disease Segmental progressive overgrowth syndrome with fibroadipose hyperplasia UniProtKB:P42336 biolink:Protein Orphanet:314655 biolink:Disease Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion UniProtKB:Q00577 biolink:Protein Orphanet:314629 biolink:Disease CLN11 disease UniProtKB:P28799 biolink:Protein Orphanet:314637 biolink:Disease Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency UniProtKB:Q9Y2Z2 biolink:Protein Orphanet:314632 biolink:Disease ATP13A2-related juvenile neuronal ceroid lipofuscinosis UniProtKB:Q9NQ11 biolink:Protein Orphanet:314802 biolink:Disease Short stature due to partial GHR deficiency UniProtKB:P10912 biolink:Protein Orphanet:314811 biolink:Disease Short stature due to GHSR deficiency UniProtKB:Q92847 biolink:Protein Orphanet:314777 biolink:Disease Familial isolated pituitary adenoma UniProtKB:Q9H251 biolink:Protein UniProtKB:O00170 biolink:Protein Orphanet:314786 biolink:Disease Silent pituitary adenoma UniProtKB:O00255 biolink:Protein UniProtKB:O00170 biolink:Protein Orphanet:314790 biolink:Disease Null pituitary adenoma UniProtKB:O00255 biolink:Protein UniProtKB:O00170 biolink:Protein Orphanet:314795 biolink:Disease SHOX-related short stature UniProtKB:O15266 biolink:Protein Orphanet:314718 biolink:Disease Lethal arteriopathy syndrome due to fibulin-4 deficiency UniProtKB:O95967 biolink:Protein Orphanet:314721 biolink:Disease Atypical dentin dysplasia due to SMOC2 deficiency UniProtKB:Q9H3U7 biolink:Protein Orphanet:370109 biolink:Disease Ataxia-telangiectasia variant UniProtKB:Q13315 biolink:Protein Orphanet:370103 biolink:Disease Primary dystonia, DYT17 type Orphanet:370097 biolink:Disease Oculocutaneous albinism type 6 UniProtKB:Q71RS6 biolink:Protein Orphanet:370396 biolink:Disease Small cell carcinoma of the ovary UniProtKB:P51532 biolink:Protein Orphanet:370348 biolink:Disease Peripheral primitive neuroectodermal tumor UniProtKB:Q01543 biolink:Protein Orphanet:370334 biolink:Disease Extraskeletal Ewing sarcoma UniProtKB:P11308 biolink:Protein UniProtKB:Q01844 biolink:Protein UniProtKB:Q01543 biolink:Protein UniProtKB:O60264 biolink:Protein Orphanet:370022 biolink:Disease Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome UniProtKB:P25391 biolink:Protein Orphanet:370026 biolink:Disease Acute myeloid leukemia with t(8;16)(p11;p13) translocation UniProtKB:Q92793 biolink:Protein UniProtKB:Q92794 biolink:Protein Orphanet:370088 biolink:Disease Acute infantile liver failure-multisystemic involvement syndrome UniProtKB:Q9P2J5 biolink:Protein Orphanet:370997 biolink:Disease Muscle-eye-brain disease with bilateral multicystic leucodystrophy UniProtKB:Q14118 biolink:Protein Orphanet:370921 biolink:Disease STT3A-CDG UniProtKB:P46977 biolink:Protein Orphanet:370924 biolink:Disease STT3B-CDG UniProtKB:Q8TCJ2 biolink:Protein Orphanet:370927 biolink:Disease SSR4-CDG UniProtKB:P51571 biolink:Protein Orphanet:370930 biolink:Disease XYLT1-CDG UniProtKB:Q86Y38 biolink:Protein Orphanet:370959 biolink:Disease Congenital muscular dystrophy with cerebellar involvement UniProtKB:Q8WZA1 biolink:Protein UniProtKB:Q9Y6A1 biolink:Protein UniProtKB:Q9UKY4 biolink:Protein UniProtKB:Q9H9S5 biolink:Protein UniProtKB:Q9H5K3 biolink:Protein UniProtKB:Q9Y5P6 biolink:Protein Orphanet:370968 biolink:Disease Congenital muscular dystrophy with intellectual disability UniProtKB:Q9Y6A1 biolink:Protein UniProtKB:Q9UKY4 biolink:Protein UniProtKB:Q9H9S5 biolink:Protein UniProtKB:O95461 biolink:Protein UniProtKB:Q9Y5P6 biolink:Protein Orphanet:370980 biolink:Disease Congenital muscular dystrophy without intellectual disability UniProtKB:Q9Y6A1 biolink:Protein UniProtKB:O75072 biolink:Protein UniProtKB:Q9H9S5 biolink:Protein UniProtKB:A4D126 biolink:Protein Orphanet:370933 biolink:Disease GM3 synthase deficiency UniProtKB:Q9UNP4 biolink:Protein Orphanet:370943 biolink:Disease Autism spectrum disorder-epilepsy-arthrogryposis syndrome UniProtKB:Q9Y2D2 biolink:Protein Orphanet:369929 biolink:Disease Primary hyperaldosteronism-seizures-neurological abnormalities syndrome UniProtKB:Q01668 biolink:Protein Orphanet:369920 biolink:Disease Pontocerebellar hypoplasia type 9 UniProtKB:Q01433 biolink:Protein Orphanet:369942 biolink:Disease CADDS UniProtKB:P33897 biolink:Protein UniProtKB:P51572 biolink:Protein Orphanet:369939 biolink:Disease Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome UniProtKB:P51572 biolink:Protein Orphanet:369955 biolink:Disease Methylmalonic acidemia with homocystinuria, type cblJ UniProtKB:O14678 biolink:Protein Orphanet:369970 biolink:Disease Microcornea-myopic chorioretinal atrophy-telecanthus syndrome UniProtKB:Q8TE60 biolink:Protein Orphanet:369962 biolink:Disease Methylmalonic acidemia with homocystinuria, type cblX UniProtKB:P51610 biolink:Protein Orphanet:369992 biolink:Disease Severe dermatitis-multiple allergies-metabolic wasting syndrome UniProtKB:P15924 biolink:Protein UniProtKB:Q02413 biolink:Protein Orphanet:370002 biolink:Disease Focal palmoplantar keratoderma with joint keratoses UniProtKB:Q02413 biolink:Protein Orphanet:369999 biolink:Disease Diffuse palmoplantar keratoderma with painful fissures UniProtKB:Q02413 biolink:Protein Orphanet:369837 biolink:Disease Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome UniProtKB:Q969N2 biolink:Protein Orphanet:369840 biolink:Disease TRAPPC11-related limb-girdle muscular dystrophy R18 UniProtKB:Q7Z392 biolink:Protein Orphanet:369847 biolink:Disease Intellectual disability-hyperkinetic movement-truncal ataxia syndrome UniProtKB:Q7Z392 biolink:Protein Orphanet:369852 biolink:Disease Congenital neutropenia-myelofibrosis-nephromegaly syndrome UniProtKB:Q9NRW7 biolink:Protein UniProtKB:Q9H1K0 biolink:Protein Orphanet:369861 biolink:Disease Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome UniProtKB:Q96Q11 biolink:Protein Orphanet:369867 biolink:Disease Autosomal recessive intermediate Charcot-Marie-Tooth disease type C UniProtKB:O94827 biolink:Protein Orphanet:369873 biolink:Disease Obesity due to SIM1 deficiency UniProtKB:P81133 biolink:Protein Orphanet:369881 biolink:Disease 2p21 microdeletion syndrome without cystinuria UniProtKB:Q4J6C6 biolink:Protein UniProtKB:Q7Z624 biolink:Protein Orphanet:369891 biolink:Disease Developmental delay-facial dysmorphism syndrome due to MED13L deficiency UniProtKB:Q71F56 biolink:Protein Orphanet:369897 biolink:Disease Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies UniProtKB:Q9UKA2 biolink:Protein Orphanet:369913 biolink:Disease Combined oxidative phosphorylation defect type 17 UniProtKB:Q9BQ52 biolink:Protein Orphanet:364063 biolink:Disease Infantile epileptic-dyskinetic encephalopathy UniProtKB:Q96QS3 biolink:Protein Orphanet:364055 biolink:Disease Severe early-childhood-onset retinal dystrophy UniProtKB:Q16518 biolink:Protein UniProtKB:Q86VQ0 biolink:Protein UniProtKB:O95237 biolink:Protein UniProtKB:Q9P0W8 biolink:Protein Orphanet:364043 biolink:Disease ALK-positive large B-cell lymphoma UniProtKB:Q9UM73 biolink:Protein Orphanet:364028 biolink:Disease X-linked intellectual disability due to GRIA3 mutations UniProtKB:P42263 biolink:Protein Orphanet:772 biolink:Disease Infantile Refsum disease UniProtKB:P28328 biolink:Protein UniProtKB:O43933 biolink:Protein UniProtKB:O60683 biolink:Protein UniProtKB:O00623 biolink:Protein UniProtKB:Q92968 biolink:Protein UniProtKB:O75381 biolink:Protein UniProtKB:Q9Y5Y5 biolink:Protein UniProtKB:P40855 biolink:Protein UniProtKB:Q7Z412 biolink:Protein UniProtKB:P56589 biolink:Protein UniProtKB:P50542 biolink:Protein UniProtKB:Q13608 biolink:Protein UniProtKB:O96011 biolink:Protein Orphanet:1194 biolink:Disease TMEM70-related mitochondrial encephalo-cardio-myopathy UniProtKB:Q9BUB7 biolink:Protein Orphanet:363999 biolink:Disease Non-immune hydrops fetalis UniProtKB:O15123 biolink:Protein UniProtKB:Q9NS62 biolink:Protein Orphanet:363989 biolink:Disease Familial benign flecked retina UniProtKB:P39877 biolink:Protein Orphanet:363992 biolink:Disease Ichthyosis-short stature-brachydactyly-microspherophakia syndrome UniProtKB:Q8TE56 biolink:Protein UniProtKB:Q8IU89 biolink:Protein Orphanet:363981 biolink:Disease Charcot-Marie-Tooth disease type 4B3 UniProtKB:O95248 biolink:Protein Orphanet:363969 biolink:Disease Autosomal recessive cerebral atrophy UniProtKB:Q9NRS4 biolink:Protein Orphanet:363972 biolink:Disease Noonan syndrome-like disorder with juvenile myelomonocytic leukemia UniProtKB:P22681 biolink:Protein Orphanet:363965 biolink:Disease Koolen-De Vries syndrome due to a point mutation UniProtKB:Q7Z3B3 biolink:Protein Orphanet:363958 biolink:Disease 17q21.31 microdeletion syndrome UniProtKB:Q7Z3B3 biolink:Protein Orphanet:363727 biolink:Disease X-linked dyserythropoietic anemia with abnormal platelets and neutropenia UniProtKB:P15976 biolink:Protein Orphanet:363722 biolink:Disease Alexander disease type II UniProtKB:P14136 biolink:Protein Orphanet:363717 biolink:Disease Alexander disease type I UniProtKB:P14136 biolink:Protein Orphanet:363710 biolink:Disease Spinocerebellar ataxia type 37 UniProtKB:O75553 biolink:Protein Orphanet:363700 biolink:Disease Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion UniProtKB:P21359 biolink:Protein Orphanet:363694 biolink:Disease Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome UniProtKB:Q9NP81 biolink:Protein Orphanet:363686 biolink:Disease Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome UniProtKB:Q8WXI9 biolink:Protein Orphanet:363677 biolink:Disease Childhood-onset autosomal recessive myopathy with external ophthalmoplegia UniProtKB:Q9UKX2 biolink:Protein Orphanet:363417 biolink:Disease Temtamy preaxial brachydactyly syndrome UniProtKB:Q86X52 biolink:Protein Orphanet:363409 biolink:Disease Fetal akinesia-cerebral and retinal hemorrhage syndrome UniProtKB:P50570 biolink:Protein Orphanet:363412 biolink:Disease Hypomyelination with brain stem and spinal cord involvement and leg spasticity UniProtKB:P14868 biolink:Protein Orphanet:363432 biolink:Disease Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency UniProtKB:O43424 biolink:Protein Orphanet:363424 biolink:Disease Multiple mitochondrial dysfunctions syndrome type 3 UniProtKB:Q5T440 biolink:Protein Orphanet:363396 biolink:Disease High myopia-sensorineural deafness syndrome UniProtKB:Q9H5Y7 biolink:Protein Orphanet:363400 biolink:Disease Severe neurodegenerative syndrome with lipodystrophy UniProtKB:Q96G97 biolink:Protein Orphanet:363618 biolink:Disease LMNA-related cardiocutaneous progeria syndrome UniProtKB:P02545 biolink:Protein Orphanet:363623 biolink:Disease GMPPB-related limb-girdle muscular dystrophy R19 UniProtKB:Q9Y5P6 biolink:Protein Orphanet:363649 biolink:Disease Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome UniProtKB:P28340 biolink:Protein Orphanet:363654 biolink:Disease X-linked parkinsonism-spasticity syndrome UniProtKB:O75787 biolink:Protein Orphanet:363665 biolink:Disease Acroosteolysis-keloid-like lesions-premature aging syndrome UniProtKB:P09619 biolink:Protein Orphanet:363540 biolink:Disease Leukoencephalopathy with mild cerebellar ataxia and white matter edema UniProtKB:P51788 biolink:Protein Orphanet:363549 biolink:Disease Acute encephalopathy with biphasic seizures and late reduced diffusion UniProtKB:P29274 biolink:Protein Orphanet:363611 biolink:Disease CTCF-related neurodevelopmental disorder UniProtKB:P49711 biolink:Protein Orphanet:363494 biolink:Disease Non-seminomatous germ cell tumor of testis UniProtKB:P21583 biolink:Protein UniProtKB:Q9C004 biolink:Protein Orphanet:363523 biolink:Disease Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome UniProtKB:Q9Y2V7 biolink:Protein Orphanet:363534 biolink:Disease Mitochondrial DNA depletion syndrome, hepatocerebrorenal form UniProtKB:Q96RR1 biolink:Protein Orphanet:363528 biolink:Disease Intellectual disability-strabismus syndrome UniProtKB:Q96EY9 biolink:Protein Orphanet:363444 biolink:Disease THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome UniProtKB:Q86W42 biolink:Protein Orphanet:363454 biolink:Disease BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy UniProtKB:Q8TD16 biolink:Protein Orphanet:357329 biolink:Disease Combined immunodeficiency due to IL21R deficiency UniProtKB:Q9HBE5 biolink:Protein Orphanet:357237 biolink:Disease Severe combined immunodeficiency due to CARD11 deficiency UniProtKB:Q9BXL7 biolink:Protein Orphanet:356978 biolink:Disease D,L-2-hydroxyglutaric aciduria UniProtKB:P53007 biolink:Protein Orphanet:356961 biolink:Disease SLC35A2-CDG UniProtKB:P78381 biolink:Protein Orphanet:357008 biolink:Disease Hemolytic uremic syndrome with DGKE deficiency UniProtKB:P52429 biolink:Protein Orphanet:356996 biolink:Disease ANK3-related intellectual disability-sleep disturbance syndrome UniProtKB:Q12955 biolink:Protein Orphanet:357043 biolink:Disease Amyotrophic lateral sclerosis type 4 UniProtKB:Q7Z333 biolink:Protein Orphanet:357034 biolink:Disease Non-hereditary retinoblastoma UniProtKB:P06400 biolink:Protein UniProtKB:P04198 biolink:Protein Orphanet:357027 biolink:Disease Hereditary retinoblastoma UniProtKB:P06400 biolink:Protein UniProtKB:P04198 biolink:Protein Orphanet:357074 biolink:Disease Autosomal recessive cutis laxa type 2, classic type UniProtKB:P36543 biolink:Protein UniProtKB:P38606 biolink:Protein UniProtKB:Q9Y487 biolink:Protein Orphanet:357064 biolink:Disease Autosomal recessive cutis laxa type 2B UniProtKB:P32322 biolink:Protein Orphanet:352654 biolink:Disease Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome UniProtKB:P09936 biolink:Protein Orphanet:352662 biolink:Disease Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome UniProtKB:Q9C000 biolink:Protein Orphanet:352641 biolink:Disease Autosomal recessive cerebellar ataxia with late-onset spasticity UniProtKB:Q9HCG7 biolink:Protein Orphanet:352649 biolink:Disease Brain dopamine-serotonin vesicular transport disease UniProtKB:Q05940 biolink:Protein Orphanet:352596 biolink:Disease Progressive myoclonic epilepsy with dystonia UniProtKB:Q9ULP9 biolink:Protein Orphanet:352577 biolink:Disease Bainbridge-Ropers syndrome UniProtKB:Q9C0F0 biolink:Protein Orphanet:352587 biolink:Disease Focal epilepsy-intellectual disability-cerebro-cerebellar malformation UniProtKB:Q9ULP9 biolink:Protein Orphanet:352582 biolink:Disease Familial infantile myoclonic epilepsy UniProtKB:O14810 biolink:Protein UniProtKB:Q9ULP9 biolink:Protein Orphanet:352734 biolink:Disease Minimal pigment oculocutaneous albinism type 1 UniProtKB:P14679 biolink:Protein Orphanet:352737 biolink:Disease Temperature-sensitive oculocutaneous albinism type 1 UniProtKB:P14679 biolink:Protein Orphanet:352709 biolink:Disease CLN13 disease UniProtKB:Q9UBX1 biolink:Protein Orphanet:352712 biolink:Disease Facial dysmorphism-immunodeficiency-livedo-short stature syndrome UniProtKB:Q07864 biolink:Protein Orphanet:352718 biolink:Disease Progressive retinal dystrophy due to retinol transport defect UniProtKB:P02753 biolink:Protein Orphanet:352723 biolink:Disease Attenuated Chédiak-Higashi syndrome UniProtKB:Q99698 biolink:Protein Orphanet:352665 biolink:Disease Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion UniProtKB:P61978 biolink:Protein Orphanet:352670 biolink:Disease Autosomal dominant intermediate Charcot-Marie-Tooth disease type F UniProtKB:Q9HAV0 biolink:Protein Orphanet:352675 biolink:Disease X-linked Charcot-Marie-Tooth disease type 6 UniProtKB:Q15120 biolink:Protein Orphanet:352682 biolink:Disease Cobblestone lissencephaly without muscular or ocular involvement UniProtKB:P07942 biolink:Protein Orphanet:353277 biolink:Disease Rubinstein-Taybi syndrome due to CREBBP mutations UniProtKB:Q92793 biolink:Protein Orphanet:353225 biolink:Disease NON RARE IN EUROPE: Primary adult open-angle glaucoma UniProtKB:Q16678 biolink:Protein UniProtKB:P34130 biolink:Protein UniProtKB:Q8NI36 biolink:Protein UniProtKB:Q96CV9 biolink:Protein UniProtKB:Q8WXI3 biolink:Protein Orphanet:353220 biolink:Disease Familial primary localized cutaneous amyloidosis UniProtKB:Q99650 biolink:Protein UniProtKB:Q8NI17 biolink:Protein Orphanet:353217 biolink:Disease Epileptic encephalopathy with global cerebral demyelination UniProtKB:O75746 biolink:Protein Orphanet:352745 biolink:Disease Oculocutaneous albinism type 7 UniProtKB:Q9H2I8 biolink:Protein Orphanet:353320 biolink:Disease Pyruvate carboxylase deficiency, benign type UniProtKB:P11498 biolink:Protein Orphanet:353327 biolink:Disease Congenital myasthenic syndromes with glycosylation defect UniProtKB:Q9H553 biolink:Protein UniProtKB:Q9H3H5 biolink:Protein UniProtKB:Q06210 biolink:Protein UniProtKB:Q96F25 biolink:Protein UniProtKB:Q9Y5P6 biolink:Protein Orphanet:353308 biolink:Disease Pyruvate carboxylase deficiency, infantile type UniProtKB:P11498 biolink:Protein Orphanet:353314 biolink:Disease Pyruvate carboxylase deficiency, severe neonatal type UniProtKB:P11498 biolink:Protein Orphanet:353298 biolink:Disease Roifman syndrome Orphanet:353281 biolink:Disease Rubinstein-Taybi syndrome due to 16p13.3 microdeletion UniProtKB:Q92793 biolink:Protein Orphanet:353284 biolink:Disease Rubinstein-Taybi syndrome due to EP300 haploinsufficiency UniProtKB:Q09472 biolink:Protein Orphanet:352403 biolink:Disease Spectrin-associated autosomal recessive cerebellar ataxia UniProtKB:O15020 biolink:Protein Orphanet:352333 biolink:Disease Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome UniProtKB:Q9GZR5 biolink:Protein Orphanet:352328 biolink:Disease MEGDEL syndrome UniProtKB:Q96JX3 biolink:Protein Orphanet:352447 biolink:Disease Progressive external ophthalmoplegia-myopathy-emaciation syndrome UniProtKB:Q9BQP7 biolink:Protein Orphanet:352530 biolink:Disease Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome UniProtKB:Q96Q05 biolink:Protein Orphanet:352563 biolink:Disease Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency UniProtKB:Q9H9J2 biolink:Protein Orphanet:352479 biolink:Disease ISPD-related limb-girdle muscular dystrophy R20 UniProtKB:A4D126 biolink:Protein Orphanet:352470 biolink:Disease DNA2-related mitochondrial DNA deletion syndrome UniProtKB:P51530 biolink:Protein Orphanet:352490 biolink:Disease Autism spectrum disorder due to AUTS2 deficiency UniProtKB:Q8WXX7 biolink:Protein Orphanet:294415 biolink:Disease Renal-hepatic-pancreatic dysplasia UniProtKB:Q7Z494 biolink:Protein UniProtKB:Q86SG6 biolink:Protein Orphanet:294016 biolink:Disease Microcephaly-capillary malformation syndrome UniProtKB:O95630 biolink:Protein Orphanet:294023 biolink:Disease Neonatal inflammatory skin and bowel disease UniProtKB:P00533 biolink:Protein UniProtKB:P78536 biolink:Protein Orphanet:293964 biolink:Disease Hypoinsulinemic hypoglycemia and body hemihypertrophy UniProtKB:P31751 biolink:Protein Orphanet:293978 biolink:Disease Deficiency in anterior pituitary function-variable immunodeficiency syndrome UniProtKB:Q00653 biolink:Protein Orphanet:293955 biolink:Disease Childhood encephalopathy due to thiamine pyrophosphokinase deficiency UniProtKB:Q9H3S4 biolink:Protein Orphanet:293948 biolink:Disease 1p21.3 microdeletion syndrome UniProtKB:Q12882 biolink:Protein Orphanet:293936 biolink:Disease EDICT syndrome Orphanet:293925 biolink:Disease Lethal occipital encephalocele-skeletal dysplasia syndrome UniProtKB:Q9NR63 biolink:Protein Orphanet:293910 biolink:Disease Familial isolated arrhythmogenic ventricular dysplasia, right dominant form UniProtKB:Q8WZ42 biolink:Protein UniProtKB:Q99959 biolink:Protein UniProtKB:Q92736 biolink:Protein UniProtKB:P10600 biolink:Protein UniProtKB:Q02487 biolink:Protein UniProtKB:Q14126 biolink:Protein UniProtKB:P15924 biolink:Protein UniProtKB:P14923 biolink:Protein UniProtKB:O75112 biolink:Protein UniProtKB:P02545 biolink:Protein UniProtKB:Q9BTV4 biolink:Protein UniProtKB:Q9UI47 biolink:Protein UniProtKB:P19022 biolink:Protein Orphanet:293899 biolink:Disease Familial isolated arrhythmogenic ventricular dysplasia, biventricular form UniProtKB:Q8WZ42 biolink:Protein UniProtKB:Q9BTV4 biolink:Protein UniProtKB:Q9UI47 biolink:Protein UniProtKB:Q14126 biolink:Protein UniProtKB:Q99959 biolink:Protein UniProtKB:Q92736 biolink:Protein UniProtKB:P10600 biolink:Protein UniProtKB:Q02487 biolink:Protein UniProtKB:P15924 biolink:Protein UniProtKB:P14923 biolink:Protein UniProtKB:O75112 biolink:Protein UniProtKB:P02545 biolink:Protein Orphanet:293888 biolink:Disease Familial isolated arrhythmogenic ventricular dysplasia, left dominant form UniProtKB:Q99959 biolink:Protein UniProtKB:Q02487 biolink:Protein UniProtKB:Q8WZ42 biolink:Protein UniProtKB:Q9BTV4 biolink:Protein UniProtKB:Q92736 biolink:Protein UniProtKB:P10600 biolink:Protein UniProtKB:Q14126 biolink:Protein UniProtKB:P15924 biolink:Protein UniProtKB:P14923 biolink:Protein UniProtKB:O75112 biolink:Protein UniProtKB:P02545 biolink:Protein UniProtKB:Q9UI47 biolink:Protein Orphanet:293864 biolink:Disease Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome UniProtKB:Q8HWS3 biolink:Protein Orphanet:293843 biolink:Disease 3MC syndrome UniProtKB:Q9Y6Z7 biolink:Protein UniProtKB:P48740 biolink:Protein UniProtKB:Q9BWP8 biolink:Protein Orphanet:293822 biolink:Disease MITF-related melanoma and renal cell carcinoma predisposition syndrome UniProtKB:O75030 biolink:Protein Orphanet:293825 biolink:Disease Congenital dyserythropoietic anemia type IV UniProtKB:Q13351 biolink:Protein Orphanet:293707 biolink:Disease Blepharophimosis-intellectual disability syndrome, MKB type UniProtKB:Q93074 biolink:Protein Orphanet:293633 biolink:Disease PYCR1-related De Barsy syndrome UniProtKB:P32322 biolink:Protein Orphanet:289891 biolink:Disease Hypermethioninemia due to glycine N-methyltransferase deficiency UniProtKB:Q14749 biolink:Protein Orphanet:289863 biolink:Disease Atypical glycine encephalopathy UniProtKB:P48067 biolink:Protein UniProtKB:P48728 biolink:Protein UniProtKB:P23434 biolink:Protein UniProtKB:P23378 biolink:Protein Orphanet:289916 biolink:Disease Vitamin B12-unresponsive methylmalonic acidemia type mut0 UniProtKB:P22033 biolink:Protein Orphanet:289857 biolink:Disease Neonatal glycine encephalopathy UniProtKB:P48728 biolink:Protein UniProtKB:P23434 biolink:Protein UniProtKB:P23378 biolink:Protein Orphanet:289860 biolink:Disease Infantile glycine encephalopathy UniProtKB:P48067 biolink:Protein UniProtKB:P48728 biolink:Protein UniProtKB:P23434 biolink:Protein UniProtKB:P23378 biolink:Protein Orphanet:289846 biolink:Disease Glutathione synthetase deficiency with 5-oxoprolinuria UniProtKB:P48637 biolink:Protein Orphanet:289849 biolink:Disease Glutathione synthetase deficiency without 5-oxoprolinuria UniProtKB:P48637 biolink:Protein Orphanet:289560 biolink:Disease Mitochondrial membrane protein-associated neurodegeneration UniProtKB:Q9NSK7 biolink:Protein Orphanet:289548 biolink:Disease Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency UniProtKB:P05108 biolink:Protein Orphanet:289539 biolink:Disease BAP1-related tumor predisposition syndrome UniProtKB:Q92560 biolink:Protein Orphanet:289601 biolink:Disease Hereditary arterial and articular multiple calcification syndrome UniProtKB:P21589 biolink:Protein Orphanet:289586 biolink:Disease Exfoliative ichthyosis UniProtKB:P50452 biolink:Protein UniProtKB:P01040 biolink:Protein Orphanet:293381 biolink:Disease Epithelial recurrent erosion dystrophy UniProtKB:Q9UMD9 biolink:Protein Orphanet:293603 biolink:Disease Congenital hereditary endothelial dystrophy type II UniProtKB:Q8NBS3 biolink:Protein Orphanet:811 biolink:Disease Shwachman-Diamond syndrome UniProtKB:Q9Y3A5 biolink:Protein UniProtKB:Q7Z2Z2 biolink:Protein UniProtKB:P61011 biolink:Protein UniProtKB:Q5F1R6 biolink:Protein Orphanet:293150 biolink:Disease Familial clubfoot due to PITX1 point mutation UniProtKB:P78337 biolink:Protein Orphanet:741 biolink:Disease Familial mitral valve prolapse UniProtKB:Q96JQ0 biolink:Protein Orphanet:293144 biolink:Disease Familial clubfoot due to 5q31 microdeletion UniProtKB:P78337 biolink:Protein Orphanet:293168 biolink:Disease Infantile-onset ascending hereditary spastic paralysis UniProtKB:Q96Q42 biolink:Protein Orphanet:293165 biolink:Disease Skin fragility-woolly hair-palmoplantar keratoderma syndrome UniProtKB:P15924 biolink:Protein Orphanet:428 biolink:Disease Autosomal dominant hypocalcemia UniProtKB:P41180 biolink:Protein UniProtKB:P29992 biolink:Protein Orphanet:293181 biolink:Disease Malignant migrating focal seizures of infancy UniProtKB:Q99250 biolink:Protein UniProtKB:O43526 biolink:Protein UniProtKB:P37287 biolink:Protein UniProtKB:P35498 biolink:Protein UniProtKB:Q9H936 biolink:Protein UniProtKB:Q9ULP9 biolink:Protein UniProtKB:Q9NQ66 biolink:Protein UniProtKB:Q5JUK3 biolink:Protein UniProtKB:Q9H2X9 biolink:Protein Orphanet:293199 biolink:Disease Pleomorphic rhabdomyosarcoma UniProtKB:P04637 biolink:Protein UniProtKB:P21359 biolink:Protein Orphanet:393 biolink:Disease 46,XX testicular disorder of sex development UniProtKB:P48436 biolink:Protein UniProtKB:Q05066 biolink:Protein UniProtKB:P41225 biolink:Protein UniProtKB:P51843 biolink:Protein UniProtKB:Q13285 biolink:Protein Orphanet:293284 biolink:Disease Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria UniProtKB:P00439 biolink:Protein Orphanet:2394 biolink:Disease Pyruvate dehydrogenase E3 deficiency UniProtKB:P09622 biolink:Protein Orphanet:2686 biolink:Disease Cyclic neutropenia UniProtKB:P08246 biolink:Protein Orphanet:284414 biolink:Disease Glycerol kinase deficiency, adult form UniProtKB:P32189 biolink:Protein Orphanet:284417 biolink:Disease Phosphoserine aminotransferase deficiency, infantile/juvenile form UniProtKB:Q9Y617 biolink:Protein Orphanet:284426 biolink:Disease Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency UniProtKB:P00338 biolink:Protein Orphanet:284435 biolink:Disease Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency UniProtKB:P07195 biolink:Protein Orphanet:284973 biolink:Disease Marfan syndrome type 2 UniProtKB:P37173 biolink:Protein Orphanet:284963 biolink:Disease Marfan syndrome type 1 UniProtKB:P35555 biolink:Protein Orphanet:284984 biolink:Disease Aneurysm-osteoarthritis syndrome UniProtKB:P84022 biolink:Protein Orphanet:284979 biolink:Disease Neonatal Marfan syndrome UniProtKB:P35555 biolink:Protein Orphanet:289365 biolink:Disease Familial vesicoureteral reflux UniProtKB:P22105 biolink:Protein UniProtKB:Q9HCK4 biolink:Protein UniProtKB:Q9H6I2 biolink:Protein Orphanet:289377 biolink:Disease Early-onset myopathy with fatal cardiomyopathy UniProtKB:Q8WZ42 biolink:Protein Orphanet:289380 biolink:Disease Myosclerosis UniProtKB:P12110 biolink:Protein Orphanet:289290 biolink:Disease Hypermethioninemia encephalopathy due to adenosine kinase deficiency UniProtKB:P55263 biolink:Protein Orphanet:289266 biolink:Disease Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation UniProtKB:Q12879 biolink:Protein Orphanet:289307 biolink:Disease Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency UniProtKB:Q02252 biolink:Protein Orphanet:289504 biolink:Disease Combined malonic and methylmalonic acidemia UniProtKB:Q4G176 biolink:Protein Orphanet:289499 biolink:Disease Congenital cataract microcornea with corneal opacity UniProtKB:Q92626 biolink:Protein UniProtKB:Q8N100 biolink:Protein Orphanet:289513 biolink:Disease 12q15q21.1 microdeletion syndrome UniProtKB:Q9NZN8 biolink:Protein Orphanet:289465 biolink:Disease Isolated congenital adermatoglyphia UniProtKB:Q9H4L7 biolink:Protein Orphanet:289176 biolink:Disease Autosomal recessive hypophosphatemic rickets UniProtKB:Q13316 biolink:Protein UniProtKB:P22413 biolink:Protein Orphanet:289157 biolink:Disease Hypocalcemic vitamin D-dependent rickets UniProtKB:O15528 biolink:Protein UniProtKB:Q6VVX0 biolink:Protein Orphanet:281090 biolink:Disease Syndromic recessive X-linked ichthyosis UniProtKB:P08842 biolink:Protein Orphanet:281190 biolink:Disease Congenital reticular ichthyosiform erythroderma UniProtKB:P04264 biolink:Protein UniProtKB:P13645 biolink:Protein Orphanet:281201 biolink:Disease Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome UniProtKB:Q9Y244 biolink:Protein Orphanet:281139 biolink:Disease Annular epidermolytic ichthyosis UniProtKB:P13645 biolink:Protein UniProtKB:P04264 biolink:Protein Orphanet:281122 biolink:Disease Self-improving collodion baby UniProtKB:O75342 biolink:Protein UniProtKB:Q9BYJ1 biolink:Protein UniProtKB:P22735 biolink:Protein Orphanet:281127 biolink:Disease Acral self-healing collodion baby UniProtKB:P22735 biolink:Protein Orphanet:280628 biolink:Disease Familial progressive hyper- and hypopigmentation UniProtKB:P21583 biolink:Protein Orphanet:280633 biolink:Disease Multiple congenital anomalies-hypotonia-seizures syndrome UniProtKB:O95427 biolink:Protein Orphanet:280615 biolink:Disease Hemoglobinopathy Toms River UniProtKB:P69892 biolink:Protein Orphanet:280598 biolink:Disease Hereditary sensorimotor neuropathy with hyperelastic skin UniProtKB:Q9UBX5 biolink:Protein Orphanet:280620 biolink:Disease Progressive myoclonic epilepsy type 6 UniProtKB:O14653 biolink:Protein Orphanet:280671 biolink:Disease Megaconial congenital muscular dystrophy UniProtKB:Q9Y259 biolink:Protein Orphanet:280640 biolink:Disease Occipital pachygyria and polymicrogyria UniProtKB:Q9Y6N6 biolink:Protein Orphanet:280654 biolink:Disease Autosomal recessive nail dysplasia UniProtKB:O60353 biolink:Protein Orphanet:280651 biolink:Disease Acrodysostosis with multiple hormone resistance UniProtKB:P10644 biolink:Protein UniProtKB:Q08499 biolink:Protein Orphanet:280785 biolink:Disease Bullous diffuse cutaneous mastocytosis UniProtKB:P10721 biolink:Protein Orphanet:280794 biolink:Disease Pseudoxanthomatous diffuse cutaneous mastocytosis UniProtKB:P10721 biolink:Protein Orphanet:280679 biolink:Disease Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome UniProtKB:P46736 biolink:Protein Orphanet:280763 biolink:Disease Severe intellectual disability and progressive spastic paraplegia UniProtKB:O00189 biolink:Protein UniProtKB:Q9UPM8 biolink:Protein UniProtKB:Q9Y6B7 biolink:Protein UniProtKB:Q9Y587 biolink:Protein Orphanet:284149 biolink:Disease Craniosynostosis-dental anomalies UniProtKB:Q14626 biolink:Protein Orphanet:284139 biolink:Disease Larsen-like syndrome, B3GAT3 type UniProtKB:O94766 biolink:Protein Orphanet:284169 biolink:Disease Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion UniProtKB:Q9BTA9 biolink:Protein Orphanet:284247 biolink:Disease Familial retinal arterial macroaneurysm UniProtKB:Q16270 biolink:Protein Orphanet:284232 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2O UniProtKB:Q14204 biolink:Protein Orphanet:284271 biolink:Disease Autosomal recessive cerebellar ataxia-psychomotor delay syndrome UniProtKB:Q8NB59 biolink:Protein Orphanet:284324 biolink:Disease Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia UniProtKB:O14773 biolink:Protein Orphanet:284282 biolink:Disease Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency UniProtKB:Q9NZC7 biolink:Protein Orphanet:284289 biolink:Disease Adult-onset autosomal recessive cerebellar ataxia UniProtKB:Q9NW15 biolink:Protein Orphanet:284343 biolink:Disease DICER1 tumor-predisposition syndrome UniProtKB:Q9UPY3 biolink:Protein Orphanet:284339 biolink:Disease Pontocerebellar hypoplasia type 7 UniProtKB:Q96GM8 biolink:Protein UniProtKB:Q9UNW1 biolink:Protein Orphanet:284411 biolink:Disease Glycerol kinase deficiency, juvenile form UniProtKB:P32189 biolink:Protein Orphanet:282166 biolink:Disease Inherited Creutzfeldt-Jakob disease UniProtKB:P04156 biolink:Protein Orphanet:284130 biolink:Disease NON RARE IN EUROPE: Rheumatoid arthritis UniProtKB:P01911 biolink:Protein Orphanet:309854 biolink:Disease Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome UniProtKB:Q6XR72 biolink:Protein Orphanet:309803 biolink:Disease Rhizomelic chondrodysplasia punctata type 3 UniProtKB:O00116 biolink:Protein Orphanet:309789 biolink:Disease Rhizomelic chondrodysplasia punctata type 1 UniProtKB:O00628 biolink:Protein Orphanet:309796 biolink:Disease Rhizomelic chondrodysplasia punctata type 2 UniProtKB:O15228 biolink:Protein Orphanet:314029 biolink:Disease High bone mass osteogenesis imperfecta UniProtKB:P02452 biolink:Protein UniProtKB:P08123 biolink:Protein UniProtKB:P13497 biolink:Protein Orphanet:314022 biolink:Disease Gastric adenocarcinoma and proximal polyposis of the stomach UniProtKB:P25054 biolink:Protein Orphanet:313892 biolink:Disease Developmental and speech delay due to SOX5 deficiency UniProtKB:P35711 biolink:Protein Orphanet:313884 biolink:Disease 12p12.1 microdeletion syndrome UniProtKB:P35711 biolink:Protein Orphanet:313855 biolink:Disease FGFR2-related bent bone dysplasia UniProtKB:P21802 biolink:Protein Orphanet:313850 biolink:Disease Infantile cerebellar-retinal degeneration UniProtKB:Q99798 biolink:Protein Orphanet:313846 biolink:Disease Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome UniProtKB:Q13535 biolink:Protein Orphanet:313838 biolink:Disease Coats plus syndrome UniProtKB:Q2NKJ3 biolink:Protein UniProtKB:Q9H668 biolink:Protein Orphanet:313800 biolink:Disease Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome UniProtKB:Q96QP1 biolink:Protein Orphanet:313808 biolink:Disease Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia UniProtKB:Q5JTZ9 biolink:Protein UniProtKB:P07333 biolink:Protein Orphanet:313795 biolink:Disease Jawad syndrome UniProtKB:Q99708 biolink:Protein Orphanet:313772 biolink:Disease Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome UniProtKB:Q9Y4W6 biolink:Protein Orphanet:314603 biolink:Disease Autosomal recessive spastic ataxia with leukoencephalopathy UniProtKB:Q96GW9 biolink:Protein Orphanet:314597 biolink:Disease Chudley-McCullough syndrome UniProtKB:P81274 biolink:Protein Orphanet:314485 biolink:Disease Young adult-onset distal hereditary motor neuropathy UniProtKB:P25686 biolink:Protein UniProtKB:Q6PCB0 biolink:Protein Orphanet:314555 biolink:Disease Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome UniProtKB:P78411 biolink:Protein Orphanet:314394 biolink:Disease Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome UniProtKB:Q8NBT0 biolink:Protein Orphanet:314399 biolink:Disease Autosomal dominant aplasia and myelodysplasia UniProtKB:O76094 biolink:Protein Orphanet:314404 biolink:Disease Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome UniProtKB:P26358 biolink:Protein Orphanet:314373 biolink:Disease Chronic infantile diarrhea due to guanylate cyclase 2C overactivity UniProtKB:P25092 biolink:Protein Orphanet:314376 biolink:Disease Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency UniProtKB:P25092 biolink:Protein Orphanet:314381 biolink:Disease Hereditary sensory and autonomic neuropathy type 6 UniProtKB:Q03001 biolink:Protein Orphanet:314051 biolink:Disease Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome UniProtKB:Q5JPH6 biolink:Protein Orphanet:306674 biolink:Disease Kufor-Rakeb syndrome UniProtKB:Q9NQ11 biolink:Protein Orphanet:306734 biolink:Disease Primary dystonia, DYT21 type Orphanet:308380 biolink:Disease Methylcobalamin deficiency type cblDv1 UniProtKB:Q9H3L0 biolink:Protein Orphanet:308386 biolink:Disease Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A UniProtKB:Q9NZB8 biolink:Protein Orphanet:308393 biolink:Disease Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B UniProtKB:O96007 biolink:Protein Orphanet:308400 biolink:Disease Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C UniProtKB:Q9NQX3 biolink:Protein Orphanet:308410 biolink:Disease Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency UniProtKB:O14874 biolink:Protein Orphanet:308425 biolink:Disease Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency UniProtKB:Q96PE7 biolink:Protein Orphanet:308698 biolink:Disease Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form UniProtKB:Q04446 biolink:Protein Orphanet:308712 biolink:Disease Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form UniProtKB:Q04446 biolink:Protein Orphanet:308670 biolink:Disease Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form UniProtKB:Q04446 biolink:Protein Orphanet:308684 biolink:Disease Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form UniProtKB:Q04446 biolink:Protein Orphanet:309015 biolink:Disease Familial lipoprotein lipase deficiency UniProtKB:P06858 biolink:Protein Orphanet:309020 biolink:Disease Familial apolipoprotein C-II deficiency UniProtKB:P02655 biolink:Protein Orphanet:308487 biolink:Disease Generalized galactose epimerase deficiency UniProtKB:Q14376 biolink:Protein Orphanet:178 biolink:Disease Chordoma UniProtKB:O15178 biolink:Protein Orphanet:308473 biolink:Disease Erythrocyte galactose epimerase deficiency UniProtKB:Q14376 biolink:Protein Orphanet:2637 biolink:Disease Microcephalic osteodysplastic primordial dwarfism type II UniProtKB:O95613 biolink:Protein Orphanet:308442 biolink:Disease Vitamin B12-responsive methylmalonic acidemia, type cblDv2 UniProtKB:Q9H3L0 biolink:Protein Orphanet:308655 biolink:Disease Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form UniProtKB:Q04446 biolink:Protein Orphanet:308638 biolink:Disease Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form UniProtKB:Q04446 biolink:Protein Orphanet:308621 biolink:Disease Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form UniProtKB:Q04446 biolink:Protein Orphanet:308552 biolink:Disease Glycogen storage disease due to acid maltase deficiency, infantile onset UniProtKB:P10253 biolink:Protein Orphanet:309271 biolink:Disease Metachromatic leukodystrophy, adult form UniProtKB:P07602 biolink:Protein UniProtKB:P15289 biolink:Protein Orphanet:309282 biolink:Disease Alpha-mannosidosis, infantile form UniProtKB:O00754 biolink:Protein Orphanet:309288 biolink:Disease Alpha-mannosidosis, adult form UniProtKB:O00754 biolink:Protein Orphanet:309246 biolink:Disease GM2 gangliosidosis, AB variant UniProtKB:P17900 biolink:Protein Orphanet:309252 biolink:Disease Atypical Gaucher disease due to saposin C deficiency UniProtKB:P07602 biolink:Protein Orphanet:309256 biolink:Disease Metachromatic leukodystrophy, late infantile form UniProtKB:P07602 biolink:Protein UniProtKB:P15289 biolink:Protein Orphanet:309263 biolink:Disease Metachromatic leukodystrophy, juvenile form UniProtKB:P07602 biolink:Protein UniProtKB:P15289 biolink:Protein Orphanet:309324 biolink:Disease Free sialic acid storage disease, infantile form UniProtKB:Q9NRA2 biolink:Protein Orphanet:309331 biolink:Disease Intermediate severe Salla disease UniProtKB:Q9NRA2 biolink:Protein Orphanet:309334 biolink:Disease Salla disease UniProtKB:Q9NRA2 biolink:Protein Orphanet:309297 biolink:Disease Mucopolysaccharidosis type 4A UniProtKB:P34059 biolink:Protein Orphanet:309310 biolink:Disease Mucopolysaccharidosis type 4B UniProtKB:P16278 biolink:Protein Orphanet:309185 biolink:Disease Tay-Sachs disease, B variant, juvenile form UniProtKB:P06865 biolink:Protein Orphanet:309178 biolink:Disease Tay-Sachs disease, B variant, infantile form UniProtKB:P06865 biolink:Protein Orphanet:309239 biolink:Disease Tay-Sachs disease, B1 variant UniProtKB:P06865 biolink:Protein Orphanet:309192 biolink:Disease Tay-Sachs disease, B variant, adult form UniProtKB:P06865 biolink:Protein Orphanet:309155 biolink:Disease Sandhoff disease, infantile form UniProtKB:P07686 biolink:Protein Orphanet:309169 biolink:Disease Sandhoff disease, adult form UniProtKB:P07686 biolink:Protein Orphanet:309162 biolink:Disease Sandhoff disease, juvenile form UniProtKB:P07686 biolink:Protein Orphanet:300547 biolink:Disease Autosomal recessive infantile hypercalcemia UniProtKB:Q07973 biolink:Protein UniProtKB:Q06495 biolink:Protein Orphanet:300570 biolink:Disease Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation UniProtKB:Q13509 biolink:Protein Orphanet:300573 biolink:Disease Polymicrogyria due to TUBB2B mutation UniProtKB:Q9BVA1 biolink:Protein Orphanet:300576 biolink:Disease Oligodontia-cancer predisposition syndrome UniProtKB:Q9Y2T1 biolink:Protein Orphanet:300496 biolink:Disease Multiple congenital anomalies-hypotonia-seizures syndrome type 2 UniProtKB:P37287 biolink:Protein Orphanet:300525 biolink:Disease Pseudohypoaldosteronism type 2D UniProtKB:Q9UH77 biolink:Protein Orphanet:300530 biolink:Disease Pseudohypoaldosteronism type 2E UniProtKB:Q13618 biolink:Protein Orphanet:300536 biolink:Disease DDOST-CDG UniProtKB:P39656 biolink:Protein Orphanet:300865 biolink:Disease Primary cutaneous anaplastic large cell lymphoma UniProtKB:P29597 biolink:Protein UniProtKB:P06748 biolink:Protein Orphanet:300878 biolink:Disease Hairy cell leukemia variant UniProtKB:P06331 biolink:Protein Orphanet:300895 biolink:Disease ALK-positive anaplastic large cell lymphoma UniProtKB:Q9UM73 biolink:Protein Orphanet:300605 biolink:Disease Juvenile amyotrophic lateral sclerosis UniProtKB:Q96Q42 biolink:Protein UniProtKB:Q96JI7 biolink:Protein UniProtKB:P35637 biolink:Protein UniProtKB:Q99720 biolink:Protein UniProtKB:O15269 biolink:Protein Orphanet:300751 biolink:Disease Familial dilated cardiomyopathy with conduction defect due to LMNA mutation UniProtKB:P02545 biolink:Protein Orphanet:306550 biolink:Disease FADD-related immunodeficiency UniProtKB:Q13158 biolink:Protein Orphanet:306542 biolink:Disease Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome UniProtKB:Q15699 biolink:Protein Orphanet:306547 biolink:Disease Porencephaly-microcephaly-bilateral congenital cataract syndrome UniProtKB:Q9BX67 biolink:Protein Orphanet:306530 biolink:Disease Congenital hereditary facial paralysis-variable hearing loss syndrome UniProtKB:P14653 biolink:Protein Orphanet:306511 biolink:Disease Autosomal recessive spastic paraplegia type 48 UniProtKB:O43299 biolink:Protein Orphanet:306504 biolink:Disease Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome UniProtKB:P26006 biolink:Protein Orphanet:306661 biolink:Disease Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome UniProtKB:Q9GZV9 biolink:Protein UniProtKB:Q14435 biolink:Protein UniProtKB:Q9UEF7 biolink:Protein Orphanet:306658 biolink:Disease Familial normophosphatemic tumoral calcinosis UniProtKB:Q5K651 biolink:Protein Orphanet:306617 biolink:Disease X-linked complicated spastic paraplegia type 1 UniProtKB:P32004 biolink:Protein Orphanet:306577 biolink:Disease Sodium channelopathy-related small fiber neuropathy UniProtKB:Q15858 biolink:Protein UniProtKB:Q9Y5Y9 biolink:Protein UniProtKB:Q9UI33 biolink:Protein Orphanet:306558 biolink:Disease Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome UniProtKB:Q9Y5U9 biolink:Protein UniProtKB:Q969M3 biolink:Protein Orphanet:295195 biolink:Disease Synpolydactyly type 1 UniProtKB:P35453 biolink:Protein Orphanet:295191 biolink:Disease Zygodactyly type 3 UniProtKB:P35453 biolink:Protein Orphanet:295201 biolink:Disease Congenital vertical talus, unilateral UniProtKB:P28358 biolink:Protein Orphanet:295203 biolink:Disease Congenital vertical talus, bilateral UniProtKB:P28358 biolink:Protein Orphanet:295197 biolink:Disease Synpolydactyly type 2 UniProtKB:P23142 biolink:Protein Orphanet:295239 biolink:Disease Macrodactyly of fingers, unilateral UniProtKB:P42336 biolink:Protein Orphanet:295243 biolink:Disease Macrodactyly of toes, unilateral UniProtKB:P42336 biolink:Protein Orphanet:300179 biolink:Disease Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency UniProtKB:Q9NWM8 biolink:Protein Orphanet:300319 biolink:Disease Charcot-Marie-Tooth disease type 2P UniProtKB:Q6UWE0 biolink:Protein Orphanet:300324 biolink:Disease Persistent polyclonal B-cell lymphocytosis UniProtKB:Q9BXL7 biolink:Protein Orphanet:300313 biolink:Disease Congenital cataract-hearing loss-severe developmental delay syndrome UniProtKB:O00400 biolink:Protein Orphanet:300298 biolink:Disease Severe congenital hypochromic anemia with ringed sideroblasts UniProtKB:Q658P3 biolink:Protein Orphanet:300284 biolink:Disease Connective tissue disorder due to lysyl hydroxylase-3 deficiency UniProtKB:O60568 biolink:Protein Orphanet:300293 biolink:Disease Transient infantile hypertriglyceridemia and hepatosteatosis UniProtKB:P21695 biolink:Protein Orphanet:300382 biolink:Disease Progeroid and marfanoid aspect-lipodystrophy syndrome UniProtKB:P35555 biolink:Protein Orphanet:300345 biolink:Disease Autosomal systemic lupus erythematosus UniProtKB:P02745 biolink:Protein UniProtKB:P0C0L4 biolink:Protein UniProtKB:Q13609 biolink:Protein UniProtKB:Q05655 biolink:Protein UniProtKB:P00736 biolink:Protein UniProtKB:P24855 biolink:Protein Orphanet:300359 biolink:Disease PLCG2-associated antibody deficiency and immune dysregulation UniProtKB:P16885 biolink:Protein Orphanet:300333 biolink:Disease Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome UniProtKB:P48509 biolink:Protein Orphanet:464724 biolink:Disease Fever-associated acute infantile liver failure syndrome UniProtKB:A2RRP1 biolink:Protein UniProtKB:Q6NUQ1 biolink:Protein Orphanet:464738 biolink:Disease Basel-Vanagaite-Smirin-Yosef syndrome UniProtKB:Q71SY5 biolink:Protein Orphanet:464760 biolink:Disease Familial cavitary optic disc anomaly UniProtKB:Q99542 biolink:Protein Orphanet:464756 biolink:Disease Familial gastric type 1 neuroendocrine tumor UniProtKB:P20648 biolink:Protein Orphanet:465508 biolink:Disease Symptomatic form of hemochromatosis type 1 UniProtKB:Q30201 biolink:Protein UniProtKB:P22004 biolink:Protein Orphanet:464282 biolink:Disease Spastic paraplegia-severe developmental delay-epilepsy syndrome UniProtKB:Q8IYU2 biolink:Protein Orphanet:464288 biolink:Disease Short stature-brachydactyly-obesity-global developmental delay syndrome UniProtKB:Q9NVM4 biolink:Protein Orphanet:464293 biolink:Disease NON RARE IN EUROPE: Infantile capillary hemangioma UniProtKB:P35916 biolink:Protein UniProtKB:Q9H6X2 biolink:Protein UniProtKB:P35968 biolink:Protein Orphanet:464311 biolink:Disease Intellectual disability syndrome due to a DYRK1A point mutation UniProtKB:Q13627 biolink:Protein Orphanet:464366 biolink:Disease NEK9-related lethal skeletal dysplasia UniProtKB:Q8TD19 biolink:Protein Orphanet:464336 biolink:Disease BENTA disease UniProtKB:Q9BXL7 biolink:Protein Orphanet:464443 biolink:Disease COG6-CGD UniProtKB:Q9Y2V7 biolink:Protein Orphanet:464440 biolink:Disease Primary dystonia, DYT27 type UniProtKB:P12111 biolink:Protein Orphanet:464370 biolink:Disease Neonatal alloimmune neutropenia UniProtKB:O75015 biolink:Protein Orphanet:456328 biolink:Disease X-linked myotubular myopathy-abnormal genitalia syndrome UniProtKB:Q13495 biolink:Protein UniProtKB:Q13496 biolink:Protein Orphanet:456333 biolink:Disease Hereditary neuroendocrine tumor of small intestine UniProtKB:Q8NFU5 biolink:Protein Orphanet:456312 biolink:Disease Infantile multisystem neurologic-endocrine-pancreatic disease UniProtKB:Q9Y3E5 biolink:Protein Orphanet:456318 biolink:Disease Hereditary sensory neuropathy-deafness-dementia syndrome UniProtKB:P26358 biolink:Protein Orphanet:454840 biolink:Disease NTHL1-related attenuated familial adenomatous polyposis UniProtKB:P78549 biolink:Protein Orphanet:454821 biolink:Disease Pleomorphic salivary gland adenoma UniProtKB:Q6DJT9 biolink:Protein UniProtKB:P52926 biolink:Protein Orphanet:454745 biolink:Disease Kuru UniProtKB:P04156 biolink:Protein Orphanet:453533 biolink:Disease Polyendocrine-polyneuropathy syndrome UniProtKB:Q8TDJ6 biolink:Protein Orphanet:453521 biolink:Disease Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency UniProtKB:Q69YN2 biolink:Protein Orphanet:451612 biolink:Disease Familial congenital nasolacrimal duct obstruction UniProtKB:O75054 biolink:Protein Orphanet:453504 biolink:Disease Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation UniProtKB:P61978 biolink:Protein Orphanet:453510 biolink:Disease Congenital insensitivity to pain with severe intellectual disability UniProtKB:P53675 biolink:Protein Orphanet:449291 biolink:Disease Symptomatic form of fragile X syndrome in female carriers UniProtKB:Q06787 biolink:Protein Orphanet:449262 biolink:Disease NON RARE IN EUROPE: Primary bile acid malabsorption UniProtKB:Q12908 biolink:Protein Orphanet:448264 biolink:Disease Isolated focal non-epidermolytic palmoplantar keratoderma UniProtKB:Q8NET8 biolink:Protein UniProtKB:P08779 biolink:Protein Orphanet:448251 biolink:Disease Progressive autosomal recessive ataxia-deafness syndrome UniProtKB:P19634 biolink:Protein Orphanet:448267 biolink:Disease Regressive spondylometaphyseal dysplasia UniProtKB:Q14739 biolink:Protein Orphanet:448010 biolink:Disease CAD-CDG UniProtKB:P27708 biolink:Protein Orphanet:447997 biolink:Disease Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome UniProtKB:P43007 biolink:Protein Orphanet:448242 biolink:Disease Autosomal recessive brachyolmia UniProtKB:O95340 biolink:Protein Orphanet:447977 biolink:Disease Progressive scapulohumeroperoneal distal myopathy UniProtKB:P68133 biolink:Protein Orphanet:447974 biolink:Disease Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome UniProtKB:Q8IUG5 biolink:Protein Orphanet:447980 biolink:Disease 19p13.3 microduplication syndrome UniProtKB:Q14938 biolink:Protein Orphanet:447954 biolink:Disease Combined oxidative phosphorylation defect type 25 UniProtKB:Q96GW9 biolink:Protein Orphanet:447964 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2V UniProtKB:P54802 biolink:Protein Orphanet:447961 biolink:Disease Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome UniProtKB:O94885 biolink:Protein Orphanet:459033 biolink:Disease Ataxia-oculomotor apraxia type 4 UniProtKB:Q96T60 biolink:Protein Orphanet:459051 biolink:Disease Spondyloepiphyseal dysplasia, Stanescu type UniProtKB:P02458 biolink:Protein Orphanet:459061 biolink:Disease Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome UniProtKB:Q9BZG8 biolink:Protein Orphanet:459056 biolink:Disease Autosomal recessive spastic paraplegia type 75 UniProtKB:P20916 biolink:Protein Orphanet:459070 biolink:Disease X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome UniProtKB:P27635 biolink:Protein Orphanet:458713 biolink:Disease NON RARE IN EUROPE: Specific language impairment UniProtKB:Q6ZNB6 biolink:Protein Orphanet:458798 biolink:Disease Spinocerebellar ataxia type 41 UniProtKB:Q13507 biolink:Protein Orphanet:458803 biolink:Disease Spinocerebellar ataxia type 42 UniProtKB:O43497 biolink:Protein Orphanet:457485 biolink:Disease Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome UniProtKB:P42345 biolink:Protein Orphanet:457265 biolink:Disease Progressive myoclonic epilepsy type 9 UniProtKB:Q03252 biolink:Protein Orphanet:457279 biolink:Disease Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome UniProtKB:Q14738 biolink:Protein Orphanet:457260 biolink:Disease X-linked intellectual disability-hypotonia-movement disorder syndrome UniProtKB:O00571 biolink:Protein Orphanet:457240 biolink:Disease X-linked intellectual disability-short stature-overweight syndrome UniProtKB:Q8NI27 biolink:Protein Orphanet:457246 biolink:Disease Clear cell sarcoma of kidney UniProtKB:Q6W2J9 biolink:Protein UniProtKB:P62258 biolink:Protein UniProtKB:A6NNL0 biolink:Protein UniProtKB:B1AL46 biolink:Protein UniProtKB:O14746 biolink:Protein UniProtKB:Q9BZI1 biolink:Protein Orphanet:457395 biolink:Disease Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome UniProtKB:Q96DX4 biolink:Protein Orphanet:457406 biolink:Disease Multiple mitochondrial dysfunctions syndrome type 4 UniProtKB:Q86U28 biolink:Protein Orphanet:457375 biolink:Disease ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement UniProtKB:Q9BY32 biolink:Protein Orphanet:457378 biolink:Disease Complex lethal osteochondrodysplasia UniProtKB:Q6NXT6 biolink:Protein Orphanet:457359 biolink:Disease Megalencephaly-severe kyphoscoliosis-overgrowth syndrome UniProtKB:Q15751 biolink:Protein Orphanet:457284 biolink:Disease Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome UniProtKB:P30153 biolink:Protein Orphanet:457351 biolink:Disease Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome UniProtKB:Q8NB90 biolink:Protein Orphanet:457185 biolink:Disease Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome UniProtKB:Q9Y3A0 biolink:Protein Orphanet:457088 biolink:Disease Predisposition to invasive fungal disease due to CARD9 deficiency UniProtKB:Q9H257 biolink:Protein Orphanet:457223 biolink:Disease Syndromic sensorineural deafness due to combined oxidative phosphorylation defect UniProtKB:Q9Y2R9 biolink:Protein Orphanet:457212 biolink:Disease Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome UniProtKB:Q9H1V8 biolink:Protein Orphanet:457193 biolink:Disease Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome UniProtKB:Q92794 biolink:Protein Orphanet:456369 biolink:Disease Polyglucosan body myopathy type 2 UniProtKB:P46976 biolink:Protein Orphanet:457050 biolink:Disease Autosomal dominant mitochondrial myopathy with exercise intolerance UniProtKB:Q8WYQ3 biolink:Protein Orphanet:651 biolink:Disease NON RARE IN EUROPE: Idiopathic infantile nystagmus UniProtKB:Q6ZUT3 biolink:Protein UniProtKB:P51810 biolink:Protein Orphanet:317 biolink:Disease Erythrokeratodermia variabilis UniProtKB:P17302 biolink:Protein UniProtKB:Q9NTQ9 biolink:Protein UniProtKB:O75712 biolink:Protein UniProtKB:Q06136 biolink:Protein Orphanet:629 biolink:Disease Short stature due to growth hormone qualitative anomaly UniProtKB:P01241 biolink:Protein Orphanet:632 biolink:Disease Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia UniProtKB:Q06187 biolink:Protein UniProtKB:Q99607 biolink:Protein Orphanet:248 biolink:Disease Autosomal recessive hypohidrotic ectodermal dysplasia UniProtKB:Q9UNE0 biolink:Protein UniProtKB:Q8WWZ3 biolink:Protein UniProtKB:Q9GZT5 biolink:Protein UniProtKB:P04080 biolink:Protein Orphanet:1810 biolink:Disease Autosomal dominant hypohidrotic ectodermal dysplasia UniProtKB:Q9UNE0 biolink:Protein UniProtKB:Q8WWZ3 biolink:Protein UniProtKB:Q9Y4K3 biolink:Protein UniProtKB:Q8NAX2 biolink:Protein Orphanet:3437 biolink:Disease Vogt-Koyanagi-Harada disease UniProtKB:P25445 biolink:Protein UniProtKB:Q9Y2R2 biolink:Protein Orphanet:2032 biolink:Disease Idiopathic pulmonary fibrosis UniProtKB:Q8IWL2 biolink:Protein UniProtKB:P15924 biolink:Protein UniProtKB:O14746 biolink:Protein UniProtKB:Q9HC84 biolink:Protein UniProtKB:Q8IWL1 biolink:Protein UniProtKB:Q9NZ71 biolink:Protein UniProtKB:O94988 biolink:Protein UniProtKB:Q9H668 biolink:Protein UniProtKB:P98196 biolink:Protein UniProtKB:Q86TI2 biolink:Protein UniProtKB:O95453 biolink:Protein UniProtKB:P11686 biolink:Protein UniProtKB:Q99758 biolink:Protein Orphanet:198 biolink:Disease Occipital horn syndrome UniProtKB:Q04656 biolink:Protein Orphanet:891 biolink:Disease Familial exudative vitreoretinopathy UniProtKB:P35222 biolink:Protein UniProtKB:Q9ULV1 biolink:Protein UniProtKB:O75197 biolink:Protein UniProtKB:Q00604 biolink:Protein UniProtKB:O95859 biolink:Protein UniProtKB:Q9H9D4 biolink:Protein Orphanet:225 biolink:Disease Maternally-inherited diabetes and deafness Orphanet:466688 biolink:Disease Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome UniProtKB:Q9P2Q2 biolink:Protein Orphanet:466650 biolink:Disease Exercise-induced malignant hyperthermia UniProtKB:P21817 biolink:Protein Orphanet:466962 biolink:Disease SMARCA4-deficient sarcoma of thorax UniProtKB:P51532 biolink:Protein Orphanet:466950 biolink:Disease Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation UniProtKB:Q9BTA9 biolink:Protein Orphanet:466926 biolink:Disease Seizures-scoliosis-macrocephaly syndrome UniProtKB:Q93063 biolink:Protein Orphanet:466934 biolink:Disease VPS11-related autosomal recessive hypomyelinating leukodystrophy UniProtKB:Q9H270 biolink:Protein Orphanet:466921 biolink:Disease Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome UniProtKB:Q8WZ42 biolink:Protein Orphanet:466806 biolink:Disease Autosomal dominant thrombocytopenia with platelet secretion defect UniProtKB:P0C7P3 biolink:Protein Orphanet:466801 biolink:Disease LIMS2-related limb-girdle muscular dystrophy UniProtKB:Q7Z4I7 biolink:Protein Orphanet:466794 biolink:Disease Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome UniProtKB:Q96KG9 biolink:Protein Orphanet:466791 biolink:Disease Macrocephaly-intellectual disability-left ventricular non compaction syndrome UniProtKB:Q15233 biolink:Protein Orphanet:466784 biolink:Disease Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect UniProtKB:Q70HW3 biolink:Protein Orphanet:466775 biolink:Disease Autosomal recessive Charcot-Marie-Tooth disease type 2X UniProtKB:Q96JI7 biolink:Protein Orphanet:466768 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2Z UniProtKB:Q9Y6X9 biolink:Protein Orphanet:466729 biolink:Disease Familial patent arterial duct UniProtKB:Q92481 biolink:Protein UniProtKB:Q9NQX0 biolink:Protein Orphanet:466722 biolink:Disease Autosomal recessive spastic paraplegia type 77 UniProtKB:O95363 biolink:Protein Orphanet:466718 biolink:Disease Martinique crinkled retinal pigment epitheliopathy UniProtKB:Q16644 biolink:Protein Orphanet:466703 biolink:Disease TMEM199-CDG UniProtKB:Q8N511 biolink:Protein Orphanet:465824 biolink:Disease Fetal encasement syndrome UniProtKB:O15111 biolink:Protein Orphanet:466026 biolink:Disease Class I glucose-6-phosphate dehydrogenase deficiency UniProtKB:P11413 biolink:Protein Orphanet:468620 biolink:Disease Intellectual disability-epilepsy-extrapyramidal syndrome UniProtKB:O75398 biolink:Protein Orphanet:468631 biolink:Disease Microcephalic cortical malformations-short stature due to RTTN deficiency UniProtKB:Q86VV8 biolink:Protein Orphanet:467166 biolink:Disease Tubulinopathy-associated dysgyria UniProtKB:Q71U36 biolink:Protein UniProtKB:Q9BVA1 biolink:Protein UniProtKB:Q13509 biolink:Protein Orphanet:467176 biolink:Disease Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome UniProtKB:Q6PII3 biolink:Protein Orphanet:468635 biolink:Disease Cryptogenic multifocal ulcerous stenosing enteritis UniProtKB:P47712 biolink:Protein Orphanet:468641 biolink:Disease Chronic enteropathy associated with SLCO2A1 gene UniProtKB:Q92959 biolink:Protein Orphanet:468661 biolink:Disease Autosomal recessive spastic paraplegia type 74 UniProtKB:Q5T440 biolink:Protein Orphanet:468666 biolink:Disease Isolated generalized anhidrosis with normal sweat glands UniProtKB:Q14571 biolink:Protein Orphanet:468678 biolink:Disease White-Sutton syndrome UniProtKB:Q7Z3K3 biolink:Protein Orphanet:468684 biolink:Disease CCDC115-CDG UniProtKB:Q96NT0 biolink:Protein Orphanet:468672 biolink:Disease Colobomatous macrophthalmia-microcornea syndrome UniProtKB:Q9NZV1 biolink:Protein Orphanet:468726 biolink:Disease Severe primary trimethylaminuria UniProtKB:P31513 biolink:Protein Orphanet:468699 biolink:Disease SLC39A8-CDG UniProtKB:Q9C0K1 biolink:Protein Orphanet:468717 biolink:Disease Rhizomelic chondrodysplasia punctata type 5 UniProtKB:P50542 biolink:Protein Orphanet:401785 biolink:Disease Autosomal recessive spastic paraplegia type 62 UniProtKB:O75477 biolink:Protein Orphanet:401780 biolink:Disease Autosomal recessive spastic paraplegia type 61 UniProtKB:Q15041 biolink:Protein Orphanet:401800 biolink:Disease Autosomal recessive spastic paraplegia type 60 UniProtKB:Q8TAF3 biolink:Protein Orphanet:401795 biolink:Disease Autosomal recessive spastic paraplegia type 59 UniProtKB:P40818 biolink:Protein Orphanet:401768 biolink:Disease Proximal myopathy with extrapyramidal signs UniProtKB:Q9BPX6 biolink:Protein Orphanet:401764 biolink:Disease Pancytopenia-developmental delay syndrome UniProtKB:Q5T890 biolink:Protein Orphanet:401777 biolink:Disease Optic atrophy-intellectual disability syndrome UniProtKB:P10589 biolink:Protein Orphanet:401830 biolink:Disease Autosomal recessive spastic paraplegia type 69 UniProtKB:Q9H2M9 biolink:Protein Orphanet:401835 biolink:Disease Autosomal recessive spastic paraplegia type 70 UniProtKB:P56192 biolink:Protein Orphanet:401840 biolink:Disease Autosomal recessive spastic paraplegia type 71 UniProtKB:Q96KR1 biolink:Protein Orphanet:401805 biolink:Disease Autosomal recessive spastic paraplegia type 63 UniProtKB:Q01433 biolink:Protein Orphanet:401810 biolink:Disease Autosomal recessive spastic paraplegia type 64 UniProtKB:P49961 biolink:Protein Orphanet:401815 biolink:Disease Autosomal recessive spastic paraplegia type 66 UniProtKB:Q5FYB1 biolink:Protein Orphanet:401820 biolink:Disease Autosomal recessive spastic paraplegia type 67 UniProtKB:Q75T13 biolink:Protein Orphanet:401866 biolink:Disease Childhood-onset spasticity with hyperglycinemia UniProtKB:Q86SX6 biolink:Protein Orphanet:401869 biolink:Disease Multiple mitochondrial dysfunctions syndrome type 1 UniProtKB:Q9UMS0 biolink:Protein Orphanet:401874 biolink:Disease Multiple mitochondrial dysfunctions syndrome type 2 UniProtKB:Q53S33 biolink:Protein Orphanet:401849 biolink:Disease Autosomal spastic paraplegia type 72 UniProtKB:Q9BRK0 biolink:Protein Orphanet:401859 biolink:Disease Lipoic acid synthetase deficiency UniProtKB:O43766 biolink:Protein Orphanet:401862 biolink:Disease Lipoyl transferase 1 deficiency UniProtKB:Q9Y234 biolink:Protein Orphanet:401920 biolink:Disease Fibrolamellar hepatocellular carcinoma UniProtKB:P25685 biolink:Protein UniProtKB:P17612 biolink:Protein Orphanet:401911 biolink:Disease AXIN2-related attenuated familial adenomatous polyposis UniProtKB:Q9Y2T1 biolink:Protein Orphanet:401901 biolink:Disease Huntington disease-like syndrome due to C9ORF72 expansions UniProtKB:Q96LT7 biolink:Protein Orphanet:401959 biolink:Disease Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome UniProtKB:A9QM74 biolink:Protein Orphanet:401948 biolink:Disease Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency UniProtKB:P35218 biolink:Protein Orphanet:401945 biolink:Disease Moyamoya disease with early-onset achalasia UniProtKB:Q02108 biolink:Protein Orphanet:401986 biolink:Disease 1p31p32 microdeletion syndrome UniProtKB:Q12857 biolink:Protein Orphanet:401979 biolink:Disease Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type UniProtKB:Q9Y3D7 biolink:Protein Orphanet:401973 biolink:Disease MEND syndrome UniProtKB:Q15125 biolink:Protein Orphanet:401964 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons UniProtKB:Q5TAQ9 biolink:Protein Orphanet:402003 biolink:Disease Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering UniProtKB:P48668 biolink:Protein Orphanet:401996 biolink:Disease Karyomegalic interstitial nephritis UniProtKB:Q9Y2M0 biolink:Protein Orphanet:402017 biolink:Disease Acute myeloid leukemia with t(9;11)(p22;q23) UniProtKB:Q03164 biolink:Protein UniProtKB:P42568 biolink:Protein Orphanet:402020 biolink:Disease Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) UniProtKB:Q03112 biolink:Protein UniProtKB:P04843 biolink:Protein Orphanet:402014 biolink:Disease Acute myeloid leukemia with t(6;9)(p23;q34) UniProtKB:P35658 biolink:Protein UniProtKB:P35659 biolink:Protein Orphanet:402023 biolink:Disease Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) UniProtKB:Q96T37 biolink:Protein UniProtKB:Q969V6 biolink:Protein Orphanet:402026 biolink:Disease Acute myeloid leukemia with NPM1 somatic mutations UniProtKB:P06748 biolink:Protein Orphanet:402082 biolink:Disease Progressive myoclonic epilepsy type 5 UniProtKB:Q7Z3G6 biolink:Protein UniProtKB:P54098 biolink:Protein Orphanet:402364 biolink:Disease Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly UniProtKB:Q9NVC6 biolink:Protein Orphanet:402041 biolink:Disease Autosomal recessive distal renal tubular acidosis UniProtKB:Q12951 biolink:Protein UniProtKB:Q9HBG4 biolink:Protein UniProtKB:P15313 biolink:Protein UniProtKB:Q3MJ13 biolink:Protein Orphanet:402075 biolink:Disease Familial bicuspid aortic valve UniProtKB:P52952 biolink:Protein UniProtKB:Q9BWX5 biolink:Protein UniProtKB:P46531 biolink:Protein UniProtKB:O43541 biolink:Protein Orphanet:806 biolink:Disease Scott syndrome UniProtKB:Q4KMQ2 biolink:Protein Orphanet:404473 biolink:Disease Severe intellectual disability-progressive spastic diplegia syndrome UniProtKB:P35222 biolink:Protein Orphanet:404463 biolink:Disease Multisystemic smooth muscle dysfunction syndrome UniProtKB:P62736 biolink:Protein Orphanet:404466 biolink:Disease Female infertility due to zona pellucida defect UniProtKB:Q05996 biolink:Protein UniProtKB:P21754 biolink:Protein UniProtKB:P60852 biolink:Protein Orphanet:404451 biolink:Disease FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome UniProtKB:P23142 biolink:Protein Orphanet:404454 biolink:Disease Alacrimia-choreoathetosis-liver dysfunction syndrome UniProtKB:Q96IV0 biolink:Protein Orphanet:404443 biolink:Disease Tatton-Brown-Rahman syndrome UniProtKB:Q9Y6K1 biolink:Protein Orphanet:404448 biolink:Disease ADNP syndrome UniProtKB:Q9H2P0 biolink:Protein Orphanet:404437 biolink:Disease Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome UniProtKB:P47897 biolink:Protein Orphanet:404440 biolink:Disease Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency UniProtKB:Q9C0A6 biolink:Protein Orphanet:404560 biolink:Disease Familial atypical multiple mole melanoma syndrome UniProtKB:P42771 biolink:Protein Orphanet:404553 biolink:Disease Vasculitis due to ADA2 deficiency UniProtKB:Q9NZK5 biolink:Protein Orphanet:404546 biolink:Disease DITRA UniProtKB:Q9UBH0 biolink:Protein Orphanet:404521 biolink:Disease Spinal muscular atrophy with respiratory distress type 2 UniProtKB:Q9Y4W2 biolink:Protein Orphanet:404511 biolink:Disease Clear cell papillary renal cell carcinoma UniProtKB:P20823 biolink:Protein UniProtKB:O75204 biolink:Protein UniProtKB:O75030 biolink:Protein UniProtKB:Q86U86 biolink:Protein Orphanet:404507 biolink:Disease Chondromyxoid fibroma UniProtKB:Q13255 biolink:Protein Orphanet:404499 biolink:Disease Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency UniProtKB:Q92622 biolink:Protein Orphanet:404493 biolink:Disease Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency UniProtKB:O95551 biolink:Protein Orphanet:404476 biolink:Disease Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome UniProtKB:Q9UPY3 biolink:Protein Orphanet:411533 biolink:Disease NON RARE IN EUROPE: Melanoma UniProtKB:P15056 biolink:Protein UniProtKB:P01111 biolink:Protein Orphanet:411536 biolink:Disease Mild phosphoribosylpyrophosphate synthetase superactivity UniProtKB:P60891 biolink:Protein Orphanet:411543 biolink:Disease Severe phosphoribosylpyrophosphate synthetase superactivity UniProtKB:P60891 biolink:Protein Orphanet:411590 biolink:Disease Wolfram-like syndrome UniProtKB:O76024 biolink:Protein Orphanet:411602 biolink:Disease Hereditary late-onset Parkinson disease UniProtKB:P37840 biolink:Protein UniProtKB:P04062 biolink:Protein UniProtKB:Q5S007 biolink:Protein UniProtKB:Q04637 biolink:Protein UniProtKB:Q96QK1 biolink:Protein UniProtKB:O75165 biolink:Protein UniProtKB:Q6Y7W6 biolink:Protein Orphanet:411629 biolink:Disease Infantile nephropathic cystinosis UniProtKB:O60931 biolink:Protein Orphanet:411493 biolink:Disease Pontocerebellar hypoplasia type 10 UniProtKB:Q92989 biolink:Protein Orphanet:411511 biolink:Disease Angelman syndrome due to a point mutation UniProtKB:Q05086 biolink:Protein Orphanet:411515 biolink:Disease Angelman syndrome due to imprinting defect in 15q11-q13 UniProtKB:P63162 biolink:Protein UniProtKB:Q05086 biolink:Protein UniProtKB:O60312 biolink:Protein Orphanet:411712 biolink:Disease Maternal riboflavin deficiency UniProtKB:Q9NWF4 biolink:Protein Orphanet:411788 biolink:Disease Familial isolated trichomegaly UniProtKB:P12034 biolink:Protein Orphanet:411986 biolink:Disease Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome UniProtKB:Q96N67 biolink:Protein Orphanet:411969 biolink:Disease NON RARE IN EUROPE: Metabolic syndrome UniProtKB:O75581 biolink:Protein UniProtKB:Q9Y463 biolink:Protein UniProtKB:Q02078 biolink:Protein Orphanet:412022 biolink:Disease Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome UniProtKB:Q12797 biolink:Protein Orphanet:411641 biolink:Disease Ocular cystinosis UniProtKB:O60931 biolink:Protein Orphanet:411634 biolink:Disease Juvenile nephropathic cystinosis UniProtKB:O60931 biolink:Protein Orphanet:371428 biolink:Disease Multicentric osteolysis-nodulosis-arthropathy spectrum UniProtKB:P08253 biolink:Protein UniProtKB:P50281 biolink:Protein Orphanet:371364 biolink:Disease Hypotonia-speech impairment-severe cognitive delay syndrome UniProtKB:Q8IZF0 biolink:Protein UniProtKB:Q8N2C7 biolink:Protein Orphanet:391677 biolink:Disease Short stature-optic atrophy-Pelger-Huët anomaly syndrome UniProtKB:A2RRP1 biolink:Protein Orphanet:391474 biolink:Disease Frontorhiny UniProtKB:O95076 biolink:Protein Orphanet:391490 biolink:Disease Adult-onset myasthenia gravis UniProtKB:Q9Y6Q6 biolink:Protein UniProtKB:P16410 biolink:Protein UniProtKB:P01909 biolink:Protein Orphanet:391487 biolink:Disease Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome UniProtKB:O60784 biolink:Protein UniProtKB:P42224 biolink:Protein Orphanet:391646 biolink:Disease Feingold syndrome type 2 UniProtKB:Q75NE6 biolink:Protein Orphanet:391641 biolink:Disease Feingold syndrome type 1 UniProtKB:P04198 biolink:Protein Orphanet:391665 biolink:Disease Homozygous familial hypercholesterolemia UniProtKB:Q9H222 biolink:Protein UniProtKB:Q9H221 biolink:Protein UniProtKB:P04114 biolink:Protein UniProtKB:Q5SW96 biolink:Protein UniProtKB:Q8NBP7 biolink:Protein UniProtKB:P01130 biolink:Protein Orphanet:391343 biolink:Disease Fatal post-viral neurodegenerative disorder UniProtKB:P14222 biolink:Protein Orphanet:391348 biolink:Disease Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome UniProtKB:Q6P4A7 biolink:Protein Orphanet:391351 biolink:Disease SURF1-related Charcot-Marie-Tooth disease type 4 UniProtKB:Q15526 biolink:Protein Orphanet:391366 biolink:Disease Growth retardation-mild developmental delay-chronic hepatitis syndrome UniProtKB:Q9UQQ2 biolink:Protein Orphanet:391372 biolink:Disease Intellectual disability-severe speech delay-mild dysmorphism syndrome UniProtKB:Q9H334 biolink:Protein Orphanet:391376 biolink:Disease Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome UniProtKB:P08243 biolink:Protein Orphanet:391389 biolink:Disease Familial episodic pain syndrome with predominantly upper body involvement UniProtKB:O75762 biolink:Protein Orphanet:391392 biolink:Disease Familial episodic pain syndrome with predominantly lower limb involvement UniProtKB:Q9UI33 biolink:Protein Orphanet:391397 biolink:Disease Hereditary sensory and autonomic neuropathy type 7 UniProtKB:Q9UI33 biolink:Protein Orphanet:391408 biolink:Disease Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome UniProtKB:Q5SWA1 biolink:Protein UniProtKB:Q8TBZ6 biolink:Protein Orphanet:391411 biolink:Disease Atypical juvenile parkinsonism UniProtKB:O00592 biolink:Protein UniProtKB:O75061 biolink:Protein UniProtKB:O43426 biolink:Protein Orphanet:391428 biolink:Disease HSD10 disease, infantile type UniProtKB:Q99714 biolink:Protein Orphanet:391457 biolink:Disease HSD10 disease, neonatal type UniProtKB:Q99714 biolink:Protein Orphanet:391307 biolink:Disease Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome UniProtKB:Q6NXR4 biolink:Protein Orphanet:391316 biolink:Disease Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression UniProtKB:Q07912 biolink:Protein Orphanet:391311 biolink:Disease Susceptibility to viral and mycobacterial infections due to STAT1 deficiency UniProtKB:P42224 biolink:Protein Orphanet:391320 biolink:Disease East Texas bleeding disorder UniProtKB:P12259 biolink:Protein Orphanet:391330 biolink:Disease X-linked osteoporosis with fractures UniProtKB:P13797 biolink:Protein Orphanet:397973 biolink:Disease Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome Orphanet:397968 biolink:Disease Charcot-Marie-Tooth disease type 2R UniProtKB:Q9C040 biolink:Protein Orphanet:397964 biolink:Disease Combined immunodeficiency due to MALT1 deficiency UniProtKB:Q9UDY8 biolink:Protein Orphanet:397959 biolink:Disease TCR-alpha-beta-positive T-cell deficiency UniProtKB:P01848 biolink:Protein Orphanet:397951 biolink:Disease Microcephaly-thin corpus callosum-intellectual disability syndrome UniProtKB:Q6P1X5 biolink:Protein Orphanet:397946 biolink:Disease Autosomal spastic paraplegia type 58 UniProtKB:O43896 biolink:Protein Orphanet:397941 biolink:Disease MAN1B1-CDG UniProtKB:Q9UKM7 biolink:Protein Orphanet:397937 biolink:Disease Polyglucosan body myopathy type 1 UniProtKB:Q9BYM8 biolink:Protein Orphanet:397933 biolink:Disease Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome UniProtKB:Q5JU85 biolink:Protein Orphanet:397927 biolink:Disease Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome UniProtKB:O15178 biolink:Protein Orphanet:397922 biolink:Disease Ferro-cerebro-cutaneous syndrome UniProtKB:P37287 biolink:Protein Orphanet:397787 biolink:Disease Severe combined immunodeficiency due to IKK2 deficiency UniProtKB:O14920 biolink:Protein Orphanet:397755 biolink:Disease Periodic paralysis with transient compartment-like syndrome UniProtKB:Q13698 biolink:Protein Orphanet:397758 biolink:Disease Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies UniProtKB:Q9Y287 biolink:Protein Orphanet:397744 biolink:Disease Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome UniProtKB:Q7Z406 biolink:Protein Orphanet:397750 biolink:Disease Periodic paralysis with later-onset distal motor neuropathy UniProtKB:P00846 biolink:Protein UniProtKB:P03928 biolink:Protein Orphanet:397725 biolink:Disease COASY protein-associated neurodegeneration UniProtKB:Q13057 biolink:Protein Orphanet:397735 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2U UniProtKB:P56192 biolink:Protein Orphanet:397709 biolink:Disease Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome UniProtKB:Q9Y5W7 biolink:Protein Orphanet:397715 biolink:Disease Joubert syndrome with Jeune asphyxiating thoracic dystrophy UniProtKB:Q1MSJ5 biolink:Protein UniProtKB:Q9BVV6 biolink:Protein Orphanet:397692 biolink:Disease Hereditary isolated aplastic anemia UniProtKB:P40225 biolink:Protein UniProtKB:P40238 biolink:Protein UniProtKB:Q96AP0 biolink:Protein Orphanet:397623 biolink:Disease Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome UniProtKB:P56915 biolink:Protein Orphanet:397685 biolink:Disease Familial hyperprolactinemia UniProtKB:P16471 biolink:Protein Orphanet:397615 biolink:Disease Obesity due to CEP19 deficiency UniProtKB:Q96LK0 biolink:Protein Orphanet:397618 biolink:Disease Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome UniProtKB:A6NNN8 biolink:Protein Orphanet:397596 biolink:Disease Activated PI3K-delta syndrome UniProtKB:P60484 biolink:Protein UniProtKB:P27986 biolink:Protein UniProtKB:O00329 biolink:Protein Orphanet:397593 biolink:Disease Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency UniProtKB:Q9HD34 biolink:Protein UniProtKB:Q9Y697 biolink:Protein Orphanet:397612 biolink:Disease Macrocephaly-developmental delay syndrome UniProtKB:Q9Y664 biolink:Protein Orphanet:397606 biolink:Disease PrP systemic amyloidosis UniProtKB:P04156 biolink:Protein Orphanet:397590 biolink:Disease Silver-Russell syndrome due to a point mutation UniProtKB:P01344 biolink:Protein UniProtKB:P49918 biolink:Protein UniProtKB:P52926 biolink:Protein UniProtKB:Q6DJT9 biolink:Protein Orphanet:394532 biolink:Disease Multiple acyl-CoA dehydrogenase deficiency, mild type UniProtKB:Q9H2D1 biolink:Protein UniProtKB:Q8NFF5 biolink:Protein UniProtKB:P13804 biolink:Protein UniProtKB:P38117 biolink:Protein UniProtKB:Q16134 biolink:Protein Orphanet:394529 biolink:Disease Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type UniProtKB:P13804 biolink:Protein UniProtKB:P38117 biolink:Protein UniProtKB:Q16134 biolink:Protein UniProtKB:Q8NFF5 biolink:Protein Orphanet:399808 biolink:Disease Male infertility with teratozoospermia due to single gene mutation UniProtKB:Q8WY41 biolink:Protein Orphanet:399805 biolink:Disease Male infertility with azoospermia or oligozoospermia due to single gene mutation UniProtKB:Q8IWB6 biolink:Protein UniProtKB:Q8NDG6 biolink:Protein UniProtKB:Q8WY41 biolink:Protein UniProtKB:Q8IYD8 biolink:Protein UniProtKB:Q9BXT5 biolink:Protein UniProtKB:Q8NA58 biolink:Protein UniProtKB:P13569 biolink:Protein UniProtKB:Q13285 biolink:Protein UniProtKB:Q92750 biolink:Protein UniProtKB:Q9H091 biolink:Protein UniProtKB:Q8IYF3 biolink:Protein UniProtKB:Q8IZU3 biolink:Protein UniProtKB:Q5JUK2 biolink:Protein UniProtKB:O43543 biolink:Protein UniProtKB:Q8N0S2 biolink:Protein UniProtKB:Q8N635 biolink:Protein UniProtKB:Q8N1H7 biolink:Protein UniProtKB:Q6JEL2 biolink:Protein Orphanet:399058 biolink:Disease Alpha-B crystallin-related late-onset myopathy UniProtKB:P02511 biolink:Protein Orphanet:399081 biolink:Disease KLHL9-related early-onset distal myopathy UniProtKB:Q9P2J3 biolink:Protein Orphanet:399103 biolink:Disease Distal nebulin myopathy UniProtKB:P20929 biolink:Protein Orphanet:399096 biolink:Disease Distal anoctaminopathy UniProtKB:Q75V66 biolink:Protein Orphanet:398189 biolink:Disease Focal facial dermal dysplasia type IV UniProtKB:Q6V0L0 biolink:Protein Orphanet:398069 biolink:Disease MAGEL2-related Prader-Willi-like syndrome UniProtKB:Q9UJ55 biolink:Protein Orphanet:398079 biolink:Disease SIM1-related Prader-Willi-like syndrome UniProtKB:P81133 biolink:Protein Orphanet:398088 biolink:Disease Hereditary cryohydrocytosis with normal stomatin UniProtKB:P02730 biolink:Protein Orphanet:435628 biolink:Disease Keppen-Lubinsky syndrome UniProtKB:P48051 biolink:Protein Orphanet:435660 biolink:Disease LIPE-related familial partial lipodystrophy UniProtKB:Q05469 biolink:Protein Orphanet:435651 biolink:Disease CIDEC-related familial partial lipodystrophy UniProtKB:Q96AQ7 biolink:Protein Orphanet:435804 biolink:Disease Short stature-advanced bone age-early-onset osteoarthritis syndrome UniProtKB:P16112 biolink:Protein Orphanet:435845 biolink:Disease Lethal neonatal spasticity-epileptic encephalopathy syndrome UniProtKB:Q6PJG6 biolink:Protein Orphanet:435930 biolink:Disease Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome UniProtKB:O95475 biolink:Protein Orphanet:435819 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation UniProtKB:Q92734 biolink:Protein Orphanet:435953 biolink:Disease Progeroid features-hepatocellular carcinoma predisposition syndrome UniProtKB:Q9H040 biolink:Protein Orphanet:435988 biolink:Disease Chronic atrial and intestinal dysrhythmia syndrome UniProtKB:Q5FBB7 biolink:Protein Orphanet:435934 biolink:Disease COG2-CDG UniProtKB:Q14746 biolink:Protein Orphanet:435938 biolink:Disease X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome UniProtKB:P27635 biolink:Protein Orphanet:436144 biolink:Disease Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome UniProtKB:P49918 biolink:Protein Orphanet:435998 biolink:Disease Autosomal recessive intermediate Charcot-Marie-Tooth disease type D UniProtKB:P12074 biolink:Protein Orphanet:436159 biolink:Disease Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency UniProtKB:P16410 biolink:Protein Orphanet:436151 biolink:Disease Intellectual disability-expressive aphasia-facial dysmorphism syndrome UniProtKB:Q9Y6X0 biolink:Protein Orphanet:436169 biolink:Disease Thrombomodulin-related bleeding disorder UniProtKB:P07204 biolink:Protein Orphanet:436166 biolink:Disease Periodic fever-infantile enterocolitis-autoinflammatory syndrome UniProtKB:Q9NPP4 biolink:Protein Orphanet:436182 biolink:Disease Microcephalic primordial dwarfism-insulin resistance syndrome UniProtKB:Q96MF7 biolink:Protein UniProtKB:Q13426 biolink:Protein Orphanet:436174 biolink:Disease Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome UniProtKB:Q9NSE4 biolink:Protein Orphanet:436245 biolink:Disease Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome UniProtKB:Q8TC12 biolink:Protein Orphanet:436242 biolink:Disease Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease UniProtKB:Q59H18 biolink:Protein Orphanet:436271 biolink:Disease Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy UniProtKB:Q96IL0 biolink:Protein Orphanet:436252 biolink:Disease Combined immunodeficiency-enteropathy spectrum UniProtKB:Q9ULT0 biolink:Protein UniProtKB:P42356 biolink:Protein Orphanet:436274 biolink:Disease Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa UniProtKB:P38435 biolink:Protein Orphanet:437552 biolink:Disease Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity UniProtKB:P08637 biolink:Protein Orphanet:437572 biolink:Disease MYH7-related late-onset scapuloperoneal muscular dystrophy UniProtKB:P12883 biolink:Protein Orphanet:438178 biolink:Disease Fatty acyl-CoA reductase 1 deficiency UniProtKB:Q8WVX9 biolink:Protein Orphanet:438159 biolink:Disease STAT3-related early-onset multisystem autoimmune disease UniProtKB:P40763 biolink:Protein Orphanet:438134 biolink:Disease PCNA-related progressive neurodegenerative photosensitivity syndrome UniProtKB:P12004 biolink:Protein Orphanet:438117 biolink:Disease Steel syndrome UniProtKB:Q8IZC6 biolink:Protein Orphanet:438114 biolink:Disease RARS-related autosomal recessive hypomyelinating leukodystrophy UniProtKB:P54136 biolink:Protein Orphanet:438075 biolink:Disease Ketoacidosis due to monocarboxylate transporter-1 deficiency UniProtKB:P53985 biolink:Protein Orphanet:438274 biolink:Disease GCGR-related hyperglucagonemia UniProtKB:P47871 biolink:Protein Orphanet:438216 biolink:Disease PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation UniProtKB:Q00577 biolink:Protein Orphanet:438207 biolink:Disease Severe autosomal recessive macrothrombocytopenia UniProtKB:P22612 biolink:Protein UniProtKB:Q9Y223 biolink:Protein Orphanet:439212 biolink:Disease Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome UniProtKB:Q96KG7 biolink:Protein Orphanet:439218 biolink:Disease KCNQ2-related epileptic encephalopathy UniProtKB:O43526 biolink:Protein Orphanet:439822 biolink:Disease PDE4D haploinsufficiency syndrome UniProtKB:Q08499 biolink:Protein Orphanet:439854 biolink:Disease Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease UniProtKB:Q9UGJ0 biolink:Protein Orphanet:439897 biolink:Disease Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome UniProtKB:Q15058 biolink:Protein Orphanet:440402 biolink:Disease Interstitial lung disease due to ABCA3 deficiency UniProtKB:Q99758 biolink:Protein Orphanet:440354 biolink:Disease Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome UniProtKB:P12107 biolink:Protein Orphanet:440392 biolink:Disease Interstitial lung disease due to SP-C deficiency UniProtKB:P11686 biolink:Protein Orphanet:440713 biolink:Disease Isolated sedoheptulokinase deficiency UniProtKB:Q9UHJ6 biolink:Protein Orphanet:440731 biolink:Disease L-ferritin deficiency UniProtKB:P02792 biolink:Protein UniProtKB:P02792 biolink:Protein Orphanet:440427 biolink:Disease Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency UniProtKB:P56192 biolink:Protein Orphanet:440437 biolink:Disease Familial colorectal cancer Type X UniProtKB:P36894 biolink:Protein UniProtKB:Q9H3S1 biolink:Protein UniProtKB:P60866 biolink:Protein Orphanet:440706 biolink:Disease Ribose-5-P isomerase deficiency UniProtKB:P49247 biolink:Protein Orphanet:441447 biolink:Disease Early-onset posterior subcapsular cataract UniProtKB:Q8NC56 biolink:Protein UniProtKB:P43320 biolink:Protein UniProtKB:Q9H444 biolink:Protein UniProtKB:P29317 biolink:Protein UniProtKB:Q8IWX7 biolink:Protein Orphanet:441452 biolink:Disease Early-onset lamellar cataract UniProtKB:Q13515 biolink:Protein UniProtKB:P02489 biolink:Protein UniProtKB:P02511 biolink:Protein UniProtKB:P05813 biolink:Protein UniProtKB:P53673 biolink:Protein UniProtKB:P07315 biolink:Protein UniProtKB:P07320 biolink:Protein UniProtKB:Q9ULV5 biolink:Protein UniProtKB:P30301 biolink:Protein UniProtKB:P22914 biolink:Protein UniProtKB:P07316 biolink:Protein Orphanet:443057 biolink:Disease Sporadic porphyria cutanea tarda UniProtKB:Q30201 biolink:Protein Orphanet:443062 biolink:Disease Familial porphyria cutanea tarda UniProtKB:P06132 biolink:Protein UniProtKB:Q30201 biolink:Protein Orphanet:443073 biolink:Disease Charcot-Marie-Tooth disease type 2S UniProtKB:P38935 biolink:Protein Orphanet:442835 biolink:Disease Non-specific early-onset epileptic encephalopathy UniProtKB:O94805 biolink:Protein UniProtKB:P18507 biolink:Protein UniProtKB:P47869 biolink:Protein UniProtKB:Q9UM11 biolink:Protein UniProtKB:P31644 biolink:Protein UniProtKB:P61981 biolink:Protein UniProtKB:Q9GZZ9 biolink:Protein UniProtKB:O15399 biolink:Protein UniProtKB:Q5D0E6 biolink:Protein UniProtKB:Q9UPV9 biolink:Protein UniProtKB:P43004 biolink:Protein UniProtKB:Q13367 biolink:Protein UniProtKB:P38606 biolink:Protein UniProtKB:Q9NY46 biolink:Protein UniProtKB:P47870 biolink:Protein UniProtKB:Q00610 biolink:Protein UniProtKB:Q96E22 biolink:Protein UniProtKB:Q96F07 biolink:Protein UniProtKB:Q16620 biolink:Protein UniProtKB:Q99624 biolink:Protein UniProtKB:P61328 biolink:Protein UniProtKB:Q5T011 biolink:Protein UniProtKB:Q92913 biolink:Protein UniProtKB:O95319 biolink:Protein UniProtKB:Q86SQ9 biolink:Protein UniProtKB:Q08209 biolink:Protein UniProtKB:O43426 biolink:Protein UniProtKB:Q96PV0 biolink:Protein UniProtKB:Q9NZC7 biolink:Protein UniProtKB:P49588 biolink:Protein UniProtKB:Q9UQD0 biolink:Protein UniProtKB:Q8NC96 biolink:Protein UniProtKB:O60741 biolink:Protein UniProtKB:Q86YT5 biolink:Protein UniProtKB:Q14721 biolink:Protein UniProtKB:Q05193 biolink:Protein UniProtKB:P16389 biolink:Protein UniProtKB:P16389 biolink:Protein UniProtKB:Q05639 biolink:Protein UniProtKB:Q8WXI2 biolink:Protein UniProtKB:Q7L3T8 biolink:Protein UniProtKB:P50993 biolink:Protein UniProtKB:P13637 biolink:Protein UniProtKB:O75899 biolink:Protein UniProtKB:Q00975 biolink:Protein UniProtKB:Q9BWU1 biolink:Protein UniProtKB:O00555 biolink:Protein UniProtKB:P54289 biolink:Protein UniProtKB:Q9H2C2 biolink:Protein Orphanet:443197 biolink:Disease X-linked erythropoietic protoporphyria UniProtKB:P22557 biolink:Protein Orphanet:413 biolink:Disease NON RARE IN EUROPE: Hyperlipoproteinemia type 4 UniProtKB:Q6XZB0 biolink:Protein UniProtKB:Q6Q788 biolink:Protein Orphanet:426 biolink:Disease NON RARE IN EUROPE: Familial hypobetalipoproteinemia UniProtKB:P55157 biolink:Protein UniProtKB:Q8NBP7 biolink:Protein UniProtKB:P02656 biolink:Protein UniProtKB:Q9Y5C1 biolink:Protein UniProtKB:Q8WY64 biolink:Protein UniProtKB:Q9UHC9 biolink:Protein UniProtKB:P04114 biolink:Protein Orphanet:298 biolink:Disease Mitochondrial neurogastrointestinal encephalomyopathy UniProtKB:P54098 biolink:Protein UniProtKB:P19971 biolink:Protein UniProtKB:Q7LG56 biolink:Protein UniProtKB:P49916 biolink:Protein Orphanet:443236 biolink:Disease Postural orthostatic tachycardia syndrome due to NET deficiency UniProtKB:P23975 biolink:Protein Orphanet:552 biolink:Disease MODY UniProtKB:Q09428 biolink:Protein UniProtKB:P19835 biolink:Protein UniProtKB:P35557 biolink:Protein UniProtKB:P41235 biolink:Protein UniProtKB:Q14654 biolink:Protein UniProtKB:O14901 biolink:Protein UniProtKB:Q13562 biolink:Protein UniProtKB:P52945 biolink:Protein UniProtKB:P20823 biolink:Protein UniProtKB:P01308 biolink:Protein UniProtKB:O43316 biolink:Protein UniProtKB:P51451 biolink:Protein UniProtKB:Q9UKG1 biolink:Protein Orphanet:443087 biolink:Disease 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency UniProtKB:P52895 biolink:Protein UniProtKB:P17516 biolink:Protein Orphanet:443167 biolink:Disease NUT midline carcinoma UniProtKB:Q86Y26 biolink:Protein UniProtKB:O60885 biolink:Protein Orphanet:130 biolink:Disease Brugada syndrome UniProtKB:Q9Y3Q4 biolink:Protein UniProtKB:O60706 biolink:Protein UniProtKB:Q08289 biolink:Protein UniProtKB:Q13936 biolink:Protein UniProtKB:P54289 biolink:Protein UniProtKB:Q9Y6H6 biolink:Protein UniProtKB:Q8N335 biolink:Protein UniProtKB:Q9UK17 biolink:Protein UniProtKB:Q9NY72 biolink:Protein UniProtKB:Q8TD43 biolink:Protein UniProtKB:Q9Y5Y9 biolink:Protein UniProtKB:Q14BN4 biolink:Protein UniProtKB:Q07699 biolink:Protein UniProtKB:Q99996 biolink:Protein UniProtKB:Q9UJ90 biolink:Protein UniProtKB:Q9HD47 biolink:Protein UniProtKB:Q14524 biolink:Protein UniProtKB:P37088 biolink:Protein UniProtKB:Q14563 biolink:Protein UniProtKB:O60939 biolink:Protein UniProtKB:Q15842 biolink:Protein UniProtKB:Q99959 biolink:Protein Orphanet:277 biolink:Disease Severe combined immunodeficiency due to adenosine deaminase deficiency UniProtKB:P00813 biolink:Protein Orphanet:443162 biolink:Disease NDE1-related microhydranencephaly UniProtKB:Q9NXR1 biolink:Protein Orphanet:443811 biolink:Disease PGM3-CDG UniProtKB:O95394 biolink:Protein Orphanet:443950 biolink:Disease DNAJB2-related Charcot-Marie-Tooth disease type 2 UniProtKB:P25686 biolink:Protein Orphanet:443988 biolink:Disease Ventriculomegaly-cystic kidney disease UniProtKB:Q5IJ48 biolink:Protein Orphanet:444092 biolink:Disease Autoimmune interstitial lung disease-arthritis syndrome UniProtKB:P53621 biolink:Protein Orphanet:444099 biolink:Disease Autosomal dominant spastic paraplegia type 73 UniProtKB:Q8TCG5 biolink:Protein Orphanet:444138 biolink:Disease Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome UniProtKB:P20810 biolink:Protein Orphanet:443995 biolink:Disease Mandibulofacial dysostosis with alopecia UniProtKB:P25101 biolink:Protein Orphanet:444048 biolink:Disease 46,XX ovarian dysgenesis-short stature syndrome UniProtKB:Q9NXL9 biolink:Protein Orphanet:444013 biolink:Disease Combined oxidative phosphorylation defect type 23 UniProtKB:Q969Y2 biolink:Protein Orphanet:444069 biolink:Disease Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome UniProtKB:P49454 biolink:Protein Orphanet:444077 biolink:Disease Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome UniProtKB:Q9UHB7 biolink:Protein Orphanet:444072 biolink:Disease Cerebellar-facial-dental syndrome UniProtKB:Q92994 biolink:Protein Orphanet:444463 biolink:Disease Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome UniProtKB:P29144 biolink:Protein Orphanet:444458 biolink:Disease Combined oxidative phosphorylation defect type 24 UniProtKB:Q96I59 biolink:Protein Orphanet:445110 biolink:Disease Limb-girdle muscular dystrophy due to POMK deficiency UniProtKB:Q9H5K3 biolink:Protein Orphanet:445062 biolink:Disease Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome UniProtKB:Q13217 biolink:Protein Orphanet:445038 biolink:Disease 3-methylglutaconic aciduria type 7 UniProtKB:Q9H078 biolink:Protein Orphanet:445018 biolink:Disease Combined immunodeficiency due to LRBA deficiency UniProtKB:P50851 biolink:Protein Orphanet:447731 biolink:Disease NIK deficiency UniProtKB:Q99558 biolink:Protein Orphanet:447737 biolink:Disease DOCK2 deficiency UniProtKB:Q92608 biolink:Protein Orphanet:447740 biolink:Disease Susceptibility to localized juvenile periodontitis UniProtKB:P21462 biolink:Protein Orphanet:447877 biolink:Disease Polymerase proofreading-related adenomatous polyposis UniProtKB:Q07864 biolink:Protein UniProtKB:P28340 biolink:Protein Orphanet:447896 biolink:Disease Tremor-ataxia-central hypomyelination syndrome UniProtKB:O14802 biolink:Protein Orphanet:447893 biolink:Disease Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome UniProtKB:O14802 biolink:Protein Orphanet:447795 biolink:Disease Lipoyl transferase 2 deficiency UniProtKB:A6NK58 biolink:Protein Orphanet:447784 biolink:Disease Mitochondrial pyruvate carrier deficiency UniProtKB:Q9Y5U8 biolink:Protein Orphanet:447757 biolink:Disease Autosomal dominant spastic paraplegia type 9B UniProtKB:P54886 biolink:Protein Orphanet:447753 biolink:Disease Autosomal dominant spastic paraplegia type 9A UniProtKB:P54886 biolink:Protein UniProtKB:Q8WVX9 biolink:Protein Orphanet:447760 biolink:Disease Autosomal recessive spastic paraplegia type 9B UniProtKB:P54886 biolink:Protein Orphanet:412066 biolink:Disease PRKAR1B-related neurodegenerative dementia with intermediate filaments UniProtKB:P31321 biolink:Protein Orphanet:412057 biolink:Disease Autosomal recessive cerebellar ataxia due to STUB1 deficiency UniProtKB:Q9UNE7 biolink:Protein Orphanet:412181 biolink:Disease Epidermolysis bullosa simplex due to BP230 deficiency UniProtKB:Q03001 biolink:Protein Orphanet:412069 biolink:Disease AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome UniProtKB:Q5TGY3 biolink:Protein Orphanet:412189 biolink:Disease Epidermolysis bullosa simplex due to exophilin 5 deficiency UniProtKB:Q8NEV8 biolink:Protein Orphanet:412206 biolink:Disease Primary failure of tooth eruption UniProtKB:Q03431 biolink:Protein Orphanet:420179 biolink:Disease Malan overgrowth syndrome UniProtKB:Q14938 biolink:Protein Orphanet:420702 biolink:Disease Autosomal recessive severe congenital neutropenia due to CSF3R deficiency UniProtKB:Q99062 biolink:Protein Orphanet:420728 biolink:Disease Combined oxidative phosphorylation defect type 20 UniProtKB:P26640 biolink:Protein Orphanet:420733 biolink:Disease Combined oxidative phosphorylation defect type 21 UniProtKB:Q9BW92 biolink:Protein Orphanet:420741 biolink:Disease RIDDLE syndrome UniProtKB:Q8IYW5 biolink:Protein Orphanet:420492 biolink:Disease Adult-onset cervical dystonia, DYT23 type UniProtKB:Q9ULV3 biolink:Protein Orphanet:420485 biolink:Disease Cranio-cervical dystonia with laryngeal and upper-limb involvement UniProtKB:Q9BYT9 biolink:Protein Orphanet:420429 biolink:Disease Glycogen storage disease due to acid maltase deficiency, late-onset UniProtKB:P10253 biolink:Protein Orphanet:420611 biolink:Disease Transient myeloproliferative syndrome UniProtKB:P15976 biolink:Protein Orphanet:420584 biolink:Disease Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome UniProtKB:P10070 biolink:Protein Orphanet:420699 biolink:Disease Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency UniProtKB:P25025 biolink:Protein Orphanet:420686 biolink:Disease Woolly hair-palmoplantar keratoderma syndrome UniProtKB:Q63ZY3 biolink:Protein Orphanet:420561 biolink:Disease Temple-Baraitser syndrome UniProtKB:O95259 biolink:Protein Orphanet:420573 biolink:Disease Severe combined immunodeficiency due to CTPS1 deficiency UniProtKB:P17812 biolink:Protein Orphanet:420566 biolink:Disease Bleeding disorder due to CalDAG-GEFI deficiency UniProtKB:Q7LDG7 biolink:Protein Orphanet:423461 biolink:Disease Mucolipidosis type III alpha/beta UniProtKB:Q3T906 biolink:Protein Orphanet:423470 biolink:Disease Mucolipidosis type III gamma UniProtKB:Q9UJJ9 biolink:Protein Orphanet:423454 biolink:Disease Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome UniProtKB:Q6ISB3 biolink:Protein Orphanet:423384 biolink:Disease Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency UniProtKB:Q8N5M9 biolink:Protein Orphanet:423296 biolink:Disease Spinocerebellar ataxia type 38 UniProtKB:Q9NYP7 biolink:Protein Orphanet:423306 biolink:Disease Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome UniProtKB:P47897 biolink:Protein Orphanet:423479 biolink:Disease X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome UniProtKB:P60891 biolink:Protein Orphanet:422526 biolink:Disease Hereditary clear cell renal cell carcinoma UniProtKB:O15527 biolink:Protein UniProtKB:Q96SL1 biolink:Protein UniProtKB:Q8NFG4 biolink:Protein UniProtKB:Q8WU17 biolink:Protein UniProtKB:P49789 biolink:Protein UniProtKB:Q96EW2 biolink:Protein UniProtKB:C9JPN6 biolink:Protein Orphanet:423275 biolink:Disease Spinocerebellar ataxia type 40 UniProtKB:Q9P219 biolink:Protein Orphanet:424107 biolink:Disease Congenital myopathy with myasthenic-like onset UniProtKB:P21817 biolink:Protein Orphanet:424099 biolink:Disease Colobomatous microphthalmia-rhizomelic dysplasia syndrome UniProtKB:Q9Y586 biolink:Protein Orphanet:424261 biolink:Disease TOR1AIP1-related limb-girdle muscular dystrophy UniProtKB:Q5JTV8 biolink:Protein Orphanet:424027 biolink:Disease Progressive myoclonic epilepsy type 8 UniProtKB:P27544 biolink:Protein Orphanet:423894 biolink:Disease Microcephaly-complex motor and sensory axonal neuropathy syndrome UniProtKB:Q99986 biolink:Protein Orphanet:425120 biolink:Disease STING-associated vasculopathy with onset in infancy UniProtKB:Q86WV6 biolink:Protein Orphanet:431361 biolink:Disease Progressive encephalopathy with leukodystrophy due to DECR deficiency UniProtKB:Q4G0N4 biolink:Protein Orphanet:431272 biolink:Disease X-linked scapuloperoneal muscular dystrophy UniProtKB:Q13642 biolink:Protein Orphanet:431329 biolink:Disease Autosomal recessive spastic paraplegia type 57 UniProtKB:Q92734 biolink:Protein Orphanet:431255 biolink:Disease Scapuloperoneal spinal muscular atrophy UniProtKB:Q9HBA0 biolink:Protein Orphanet:431149 biolink:Disease Combined immunodeficiency due to OX40 deficiency UniProtKB:P43489 biolink:Protein Orphanet:431166 biolink:Disease Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection UniProtKB:P48551 biolink:Protein UniProtKB:P52630 biolink:Protein Orphanet:435438 biolink:Disease Progressive myoclonic epilepsy type 7 UniProtKB:P48547 biolink:Protein Orphanet:435387 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2Y UniProtKB:P55072 biolink:Protein Orphanet:434179 biolink:Disease Orofaciodigital syndrome type 14 UniProtKB:Q4AC94 biolink:Protein Orphanet:504476 biolink:Disease Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome UniProtKB:P35251 biolink:Protein Orphanet:504523 biolink:Disease Severe combined immunodeficiency due to LAT deficiency UniProtKB:O43561 biolink:Protein Orphanet:504530 biolink:Disease Combined immunodeficiency due to Moesin deficiency UniProtKB:P26038 biolink:Protein Orphanet:26793 biolink:Disease Very long chain acyl-CoA dehydrogenase deficiency UniProtKB:P49748 biolink:Protein Orphanet:29072 biolink:Disease Hereditary pheochromocytoma-paraganglioma UniProtKB:Q02978 biolink:Protein UniProtKB:O60333 biolink:Protein UniProtKB:P40926 biolink:Protein UniProtKB:P36957 biolink:Protein UniProtKB:P07949 biolink:Protein UniProtKB:P31040 biolink:Protein UniProtKB:Q99643 biolink:Protein UniProtKB:O14521 biolink:Protein UniProtKB:P07954 biolink:Protein UniProtKB:P21912 biolink:Protein UniProtKB:O75204 biolink:Protein UniProtKB:P61244 biolink:Protein UniProtKB:P21359 biolink:Protein UniProtKB:P40337 biolink:Protein UniProtKB:Q9NX18 biolink:Protein Orphanet:28378 biolink:Disease Tyrosinemia type 2 UniProtKB:P17735 biolink:Protein Orphanet:29207 biolink:Disease Reactive arthritis UniProtKB:P01889 biolink:Protein UniProtKB:P01889 biolink:Protein Orphanet:29073 biolink:Disease Multiple myeloma UniProtKB:P24385 biolink:Protein Orphanet:320 biolink:Disease Apparent mineralocorticoid excess UniProtKB:P80365 biolink:Protein Orphanet:230 biolink:Disease Dopamine beta-hydroxylase deficiency UniProtKB:P09172 biolink:Protein Orphanet:725 biolink:Disease Continuous spikes and waves during sleep UniProtKB:Q12879 biolink:Protein UniProtKB:Q9P0K9 biolink:Protein Orphanet:404 biolink:Disease Familial hyperaldosteronism type II UniProtKB:P51788 biolink:Protein Orphanet:162 biolink:Disease Cataract-glaucoma syndrome UniProtKB:O75364 biolink:Protein Orphanet:545 biolink:Disease Follicular lymphoma UniProtKB:P10415 biolink:Protein UniProtKB:P01911 biolink:Protein UniProtKB:P41182 biolink:Protein UniProtKB:Q6P089 biolink:Protein Orphanet:88 biolink:Disease Idiopathic aplastic anemia UniProtKB:P14222 biolink:Protein UniProtKB:Q9Y3A5 biolink:Protein UniProtKB:P01579 biolink:Protein UniProtKB:O14746 biolink:Protein Orphanet:824 biolink:Disease Primary myelofibrosis UniProtKB:O60674 biolink:Protein UniProtKB:P40238 biolink:Protein UniProtKB:Q6N021 biolink:Protein UniProtKB:P27797 biolink:Protein Orphanet:729 biolink:Disease Polycythemia vera UniProtKB:O60674 biolink:Protein UniProtKB:P40238 biolink:Protein UniProtKB:Q6N021 biolink:Protein Orphanet:25980 biolink:Disease X-linked myopathy with excessive autophagy UniProtKB:Q3ZAQ7 biolink:Protein Orphanet:26106 biolink:Disease Hereditary diffuse gastric cancer UniProtKB:P12830 biolink:Protein UniProtKB:O95382 biolink:Protein UniProtKB:P35221 biolink:Protein Orphanet:26792 biolink:Disease Short chain acyl-CoA dehydrogenase deficiency UniProtKB:P16219 biolink:Protein Orphanet:266 biolink:Disease Autosomal dominant limb-girdle muscular dystrophy type 1A UniProtKB:Q9UBF9 biolink:Protein Orphanet:353 biolink:Disease Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 UniProtKB:Q13326 biolink:Protein Orphanet:219 biolink:Disease Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 UniProtKB:Q92629 biolink:Protein Orphanet:119 biolink:Disease Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 UniProtKB:Q16585 biolink:Protein Orphanet:603 biolink:Disease Distal myopathy, Welander type UniProtKB:P31483 biolink:Protein UniProtKB:Q13501 biolink:Protein UniProtKB:P31483 biolink:Protein Orphanet:505227 biolink:Disease Combined immunodeficiency due to GINS1 deficiency UniProtKB:Q14691 biolink:Protein Orphanet:505237 biolink:Disease Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome UniProtKB:Q8N6M0 biolink:Protein Orphanet:588 biolink:Disease Muscle-eye-brain disease UniProtKB:O95461 biolink:Protein UniProtKB:Q8WZA1 biolink:Protein UniProtKB:Q9Y6A1 biolink:Protein UniProtKB:Q9UKY4 biolink:Protein UniProtKB:O75072 biolink:Protein UniProtKB:Q9H9S5 biolink:Protein UniProtKB:Q8NCR0 biolink:Protein UniProtKB:Q9Y5P6 biolink:Protein Orphanet:899 biolink:Disease Walker-Warburg syndrome UniProtKB:Q8WZA1 biolink:Protein UniProtKB:Q9Y6A1 biolink:Protein UniProtKB:Q9UKY4 biolink:Protein UniProtKB:P02462 biolink:Protein UniProtKB:O75072 biolink:Protein UniProtKB:Q9H9S5 biolink:Protein UniProtKB:O95461 biolink:Protein UniProtKB:Q14118 biolink:Protein UniProtKB:A4D126 biolink:Protein UniProtKB:Q8NAT1 biolink:Protein UniProtKB:Q9Y2B1 biolink:Protein UniProtKB:Q8NCR0 biolink:Protein UniProtKB:O43505 biolink:Protein UniProtKB:Q9H5K3 biolink:Protein Orphanet:505216 biolink:Disease 3-methylglutaconic aciduria type 9 UniProtKB:Q3ZCQ8 biolink:Protein Orphanet:272 biolink:Disease Congenital muscular dystrophy, Fukuyama type UniProtKB:O75072 biolink:Protein Orphanet:505208 biolink:Disease 3-methylglutaconic aciduria type 8 UniProtKB:O43464 biolink:Protein Orphanet:268 biolink:Disease Dysferlin-related limb-girdle muscular dystrophy R2 UniProtKB:O75923 biolink:Protein Orphanet:600 biolink:Disease Vocal cord and pharyngeal distal myopathy UniProtKB:P43243 biolink:Protein Orphanet:505248 biolink:Disease Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders UniProtKB:Q96AX1 biolink:Protein Orphanet:609 biolink:Disease Tibial muscular dystrophy UniProtKB:Q8WZ42 biolink:Protein Orphanet:602 biolink:Disease GNE myopathy UniProtKB:Q9Y223 biolink:Protein Orphanet:505242 biolink:Disease Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome UniProtKB:Q6PML9 biolink:Protein Orphanet:508093 biolink:Disease MEPAN syndrome UniProtKB:Q9BV79 biolink:Protein Orphanet:508533 biolink:Disease Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome UniProtKB:O43909 biolink:Protein Orphanet:508542 biolink:Disease Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome UniProtKB:Q5VVJ2 biolink:Protein Orphanet:508512 biolink:Disease Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome UniProtKB:Q96E14 biolink:Protein UniProtKB:Q13472 biolink:Protein Orphanet:508529 biolink:Disease Intermediate epidermolysis bullosa simplex with cardiomyopathy UniProtKB:Q6TFL4 biolink:Protein Orphanet:508523 biolink:Disease Hyperphenylalaninemia due to DNAJC12 deficiency UniProtKB:Q9UKB3 biolink:Protein Orphanet:508488 biolink:Disease 8q24.3 microdeletion syndrome UniProtKB:Q9UHX1 biolink:Protein Orphanet:508476 biolink:Disease Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome UniProtKB:Q12891 biolink:Protein Orphanet:508501 biolink:Disease Oral-facial-digital syndrome with short stature and brachymesophalangy UniProtKB:Q9NWB7 biolink:Protein Orphanet:508498 biolink:Disease Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome UniProtKB:Q9UHX1 biolink:Protein Orphanet:505652 biolink:Disease CDKL5-deficiency disorder UniProtKB:O76039 biolink:Protein Orphanet:506334 biolink:Disease Familial steroid-resistant nephrotic syndrome with adrenal insufficiency UniProtKB:O95470 biolink:Protein Orphanet:506307 biolink:Disease Stromme syndrome UniProtKB:P49454 biolink:Protein Orphanet:506358 biolink:Disease Gabriele-de Vries syndrome UniProtKB:P25490 biolink:Protein Orphanet:506353 biolink:Disease Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction UniProtKB:Q9C0D9 biolink:Protein Orphanet:495274 biolink:Disease Charcot-Marie-Tooth disease type 2T UniProtKB:P08473 biolink:Protein Orphanet:495844 biolink:Disease C11ORF73-related autosomal recessive hypomyelinating leukodystrophy UniProtKB:Q53FT3 biolink:Protein Orphanet:495818 biolink:Disease 9q33.3q34.11 microdeletion syndrome UniProtKB:O60663 biolink:Protein UniProtKB:P61764 biolink:Protein Orphanet:496641 biolink:Disease Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome UniProtKB:Q9BTW9 biolink:Protein Orphanet:496686 biolink:Disease Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome UniProtKB:Q8NBH2 biolink:Protein Orphanet:496689 biolink:Disease Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome UniProtKB:Q8NBH2 biolink:Protein Orphanet:496751 biolink:Disease EVEN-plus syndrome UniProtKB:P38646 biolink:Protein Orphanet:496756 biolink:Disease Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome UniProtKB:Q15813 biolink:Protein Orphanet:496790 biolink:Disease Ocular anomalies-axonal neuropathy-developmental delay syndrome UniProtKB:Q9NVI7 biolink:Protein Orphanet:494433 biolink:Disease MIRAGE syndrome UniProtKB:Q5K651 biolink:Protein Orphanet:494439 biolink:Disease Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome UniProtKB:Q13868 biolink:Protein Orphanet:494444 biolink:Disease DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome UniProtKB:O60610 biolink:Protein Orphanet:494344 biolink:Disease RERE-related neurodevelopmental syndrome UniProtKB:Q9P2R6 biolink:Protein Orphanet:494547 biolink:Disease Squamous cell carcinoma of the hypopharynx UniProtKB:O14763 biolink:Protein UniProtKB:P60484 biolink:Protein UniProtKB:Q9UK53 biolink:Protein Orphanet:494541 biolink:Disease Childhood-onset benign chorea with striatal involvement UniProtKB:Q9Y233 biolink:Protein Orphanet:494526 biolink:Disease Infantile-onset generalized dyskinesia with orofacial involvement UniProtKB:Q9Y233 biolink:Protein Orphanet:494550 biolink:Disease Squamous cell carcinoma of the larynx UniProtKB:O14763 biolink:Protein UniProtKB:P60484 biolink:Protein UniProtKB:Q9UK53 biolink:Protein Orphanet:500180 biolink:Disease Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder UniProtKB:P17480 biolink:Protein Orphanet:500188 biolink:Disease X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome UniProtKB:Q96D09 biolink:Protein Orphanet:500150 biolink:Disease Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome UniProtKB:P18583 biolink:Protein Orphanet:500159 biolink:Disease Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom UniProtKB:P63000 biolink:Protein Orphanet:302 biolink:Disease Epidermodysplasia verruciformis UniProtKB:Q7Z403 biolink:Protein UniProtKB:Q8IU68 biolink:Protein UniProtKB:P13232 biolink:Protein UniProtKB:Q99828 biolink:Protein Orphanet:500166 biolink:Disease SIN3A-related intellectual disability syndrome due to a point mutation UniProtKB:Q96ST3 biolink:Protein UniProtKB:O75182 biolink:Protein Orphanet:500135 biolink:Disease Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome UniProtKB:Q53EZ4 biolink:Protein Orphanet:500144 biolink:Disease Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome UniProtKB:Q8WVT3 biolink:Protein Orphanet:500055 biolink:Disease 16p13.2 microdeletion syndrome UniProtKB:Q93009 biolink:Protein Orphanet:500095 biolink:Disease Tall stature-intellectual disability-renal anomalies syndrome UniProtKB:O43427 biolink:Protein Orphanet:500062 biolink:Disease Infantile-onset periodic fever-panniculitis-dermatosis syndrome UniProtKB:Q96BN8 biolink:Protein Orphanet:123 biolink:Disease Björnstad syndrome UniProtKB:Q9Y276 biolink:Protein Orphanet:898 biolink:Disease Wagner disease UniProtKB:P13611 biolink:Protein Orphanet:500478 biolink:Disease Squamous cell carcinoma of the oropharynx UniProtKB:O14763 biolink:Protein UniProtKB:P60484 biolink:Protein UniProtKB:Q9UK53 biolink:Protein Orphanet:500481 biolink:Disease Squamous cell carcinoma of salivary glands UniProtKB:Q15139 biolink:Protein UniProtKB:O14763 biolink:Protein UniProtKB:P60484 biolink:Protein UniProtKB:Q9UK53 biolink:Protein Orphanet:505 biolink:Disease Graham Little-Piccardi-Lassueur syndrome UniProtKB:P01903 biolink:Protein Orphanet:170 biolink:Disease Woolly hair UniProtKB:P43657 biolink:Protein UniProtKB:Q8WWY8 biolink:Protein UniProtKB:Q7RTS7 biolink:Protein UniProtKB:Q3SY84 biolink:Protein UniProtKB:Q7Z3Z0 biolink:Protein Orphanet:500548 biolink:Disease Osteosclerotic metaphyseal dysplasia UniProtKB:Q38SD2 biolink:Protein Orphanet:500533 biolink:Disease Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome UniProtKB:Q7RTN6 biolink:Protein Orphanet:500545 biolink:Disease Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract UniProtKB:Q96RE7 biolink:Protein Orphanet:500464 biolink:Disease Squamous cell carcinoma of the nasal cavity and paranasal sinuses UniProtKB:O14763 biolink:Protein UniProtKB:P60484 biolink:Protein UniProtKB:Q9UK53 biolink:Protein Orphanet:520 biolink:Disease Acute promyelocytic leukemia UniProtKB:P29590 biolink:Protein UniProtKB:P10644 biolink:Protein UniProtKB:P10276 biolink:Protein UniProtKB:P51692 biolink:Protein UniProtKB:Q6UN15 biolink:Protein UniProtKB:P06748 biolink:Protein UniProtKB:Q96AH0 biolink:Protein UniProtKB:Q05516 biolink:Protein UniProtKB:Q14980 biolink:Protein UniProtKB:Q9BZK7 biolink:Protein UniProtKB:Q7Z5L9 biolink:Protein UniProtKB:P40763 biolink:Protein UniProtKB:Q6W2J9 biolink:Protein Orphanet:502363 biolink:Disease Squamous cell carcinoma of the oral cavity UniProtKB:O14763 biolink:Protein UniProtKB:P60484 biolink:Protein UniProtKB:Q9UK53 biolink:Protein Orphanet:502366 biolink:Disease Squamous cell carcinoma of the lip UniProtKB:O14763 biolink:Protein UniProtKB:P60484 biolink:Protein UniProtKB:Q9UK53 biolink:Protein Orphanet:502423 biolink:Disease Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome UniProtKB:Q9BUK6 biolink:Protein Orphanet:502430 biolink:Disease Metopic ridging-ptosis-facial dysmorphism syndrome UniProtKB:Q96JM2 biolink:Protein Orphanet:502434 biolink:Disease STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome UniProtKB:Q8WVM7 biolink:Protein Orphanet:502444 biolink:Disease Alkaline ceramidase 3 deficiency UniProtKB:Q9NUN7 biolink:Protein Orphanet:432 biolink:Disease Normosmic congenital hypogonadotropic hypogonadism UniProtKB:Q9HC23 biolink:Protein UniProtKB:Q8NFJ6 biolink:Protein UniProtKB:Q9P2D1 biolink:Protein UniProtKB:P11362 biolink:Protein UniProtKB:P30968 biolink:Protein UniProtKB:Q969F8 biolink:Protein UniProtKB:Q6X4W1 biolink:Protein UniProtKB:P01148 biolink:Protein UniProtKB:P55075 biolink:Protein UniProtKB:Q9UHF0 biolink:Protein UniProtKB:P29371 biolink:Protein UniProtKB:Q9BZH6 biolink:Protein UniProtKB:O60243 biolink:Protein UniProtKB:Q15726 biolink:Protein UniProtKB:O60258 biolink:Protein UniProtKB:Q16828 biolink:Protein UniProtKB:Q9C004 biolink:Protein Orphanet:91 biolink:Disease Aromatase deficiency UniProtKB:P11511 biolink:Protein Orphanet:785 biolink:Disease Estrogen resistance syndrome UniProtKB:P03372 biolink:Protein Orphanet:873 biolink:Disease Desmoid tumor UniProtKB:P35222 biolink:Protein UniProtKB:P25054 biolink:Protein Orphanet:703 biolink:Disease Bullous pemphigoid UniProtKB:P01911 biolink:Protein UniProtKB:P01920 biolink:Protein Orphanet:841 biolink:Disease Sebocystomatosis UniProtKB:Q04695 biolink:Protein Orphanet:867 biolink:Disease Familial multiple trichoepithelioma UniProtKB:Q9NQC7 biolink:Protein Orphanet:735 biolink:Disease Porokeratosis of Mibelli UniProtKB:Q03426 biolink:Protein UniProtKB:Q15126 biolink:Protein Orphanet:497906 biolink:Disease Childhood-onset basal ganglia degeneration syndrome UniProtKB:Q08AM6 biolink:Protein Orphanet:659 biolink:Disease Mutilating palmoplantar keratoderma with periorificial keratotic plaques UniProtKB:Q96FX8 biolink:Protein UniProtKB:O43462 biolink:Protein UniProtKB:Q8NET8 biolink:Protein Orphanet:523 biolink:Disease Hereditary leiomyomatosis and renal cell cancer UniProtKB:P07954 biolink:Protein Orphanet:497757 biolink:Disease MME-related autosomal dominant Charcot Marie Tooth disease type 2 UniProtKB:P08473 biolink:Protein Orphanet:497764 biolink:Disease Spinocerebellar ataxia type 43 UniProtKB:P08473 biolink:Protein Orphanet:530 biolink:Disease Lipoid proteinosis UniProtKB:Q16610 biolink:Protein Orphanet:462 biolink:Disease NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris UniProtKB:P20930 biolink:Protein Orphanet:734 biolink:Disease Alpha delta granule deficiency UniProtKB:Q5VTD9 biolink:Protein Orphanet:721 biolink:Disease Gray platelet syndrome UniProtKB:Q6ZNJ1 biolink:Protein Orphanet:722 biolink:Disease Hypoplasminogenemia UniProtKB:P00747 biolink:Protein Orphanet:749 biolink:Disease Congenital prekallikrein deficiency UniProtKB:P03952 biolink:Protein Orphanet:853 biolink:Disease Fetal and neonatal alloimmune thrombocytopenia UniProtKB:P07359 biolink:Protein UniProtKB:P13224 biolink:Protein UniProtKB:P08514 biolink:Protein UniProtKB:P05106 biolink:Protein UniProtKB:P17301 biolink:Protein UniProtKB:Q6YHK3 biolink:Protein Orphanet:483 biolink:Disease Congenital high-molecular-weight kininogen deficiency UniProtKB:P01042 biolink:Protein Orphanet:498359 biolink:Disease Aquagenic palmoplantar keratoderma UniProtKB:P13569 biolink:Protein Orphanet:852 biolink:Disease X-linked thrombocytopenia with normal platelets UniProtKB:P42768 biolink:Protein Orphanet:465 biolink:Disease Congenital plasminogen activator inhibitor type 1 deficiency UniProtKB:P05121 biolink:Protein Orphanet:498251 biolink:Disease Menstrual cycle-dependent periodic fever UniProtKB:P08908 biolink:Protein Orphanet:143 biolink:Disease Parathyroid carcinoma UniProtKB:Q6P1J9 biolink:Protein Orphanet:786 biolink:Disease Generalized glucocorticoid resistance syndrome UniProtKB:P04150 biolink:Protein Orphanet:334 biolink:Disease Familial atrial fibrillation UniProtKB:O60706 biolink:Protein UniProtKB:Q99697 biolink:Protein UniProtKB:Q14524 biolink:Protein UniProtKB:P43694 biolink:Protein UniProtKB:P15382 biolink:Protein UniProtKB:Q9Y6J6 biolink:Protein UniProtKB:P63252 biolink:Protein UniProtKB:P51787 biolink:Protein UniProtKB:P52952 biolink:Protein UniProtKB:P36382 biolink:Protein UniProtKB:Q07699 biolink:Protein UniProtKB:P12829 biolink:Protein UniProtKB:Q8WZ42 biolink:Protein UniProtKB:A6NCS4 biolink:Protein UniProtKB:Q8IWT1 biolink:Protein UniProtKB:P22460 biolink:Protein UniProtKB:O75694 biolink:Protein UniProtKB:P01160 biolink:Protein UniProtKB:Q9NY72 biolink:Protein UniProtKB:Q92908 biolink:Protein UniProtKB:Q9BWX5 biolink:Protein UniProtKB:O60939 biolink:Protein Orphanet:615 biolink:Disease Familial atrial myxoma UniProtKB:P10644 biolink:Protein Orphanet:498497 biolink:Disease Short rib-polydactyly syndrome type 5 UniProtKB:Q9P2L0 biolink:Protein Orphanet:498693 biolink:Disease MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome UniProtKB:Q00872 biolink:Protein Orphanet:444 biolink:Disease Marie Unna hereditary hypotrichosis UniProtKB:Q8TE67 biolink:Protein UniProtKB:O43593 biolink:Protein Orphanet:498481 biolink:Disease LRP5-related primary osteoporosis UniProtKB:O75197 biolink:Protein UniProtKB:O75197 biolink:Protein Orphanet:573 biolink:Disease Monilethrix UniProtKB:O43790 biolink:Protein UniProtKB:P78385 biolink:Protein UniProtKB:Q14533 biolink:Protein UniProtKB:Q86SJ6 biolink:Protein Orphanet:840 biolink:Disease Syringocystadenoma papilliferum UniProtKB:P15056 biolink:Protein Orphanet:498494 biolink:Disease Mirror-image polydactyly UniProtKB:P78337 biolink:Protein Orphanet:384 biolink:Disease Huriez syndrome UniProtKB:Q9H4L7 biolink:Protein Orphanet:41 biolink:Disease Dyschromatosis symmetrica hereditaria UniProtKB:P55265 biolink:Protein Orphanet:122 biolink:Disease Birt-Hogg-Dubé syndrome UniProtKB:Q8NFG4 biolink:Protein Orphanet:241 biolink:Disease Dyschromatosis universalis hereditaria UniProtKB:Q9NP58 biolink:Protein Orphanet:316 biolink:Disease Progressive symmetric erythrokeratodermia UniProtKB:Q8TD43 biolink:Protein UniProtKB:P78385 biolink:Protein UniProtKB:Q06136 biolink:Protein UniProtKB:P23490 biolink:Protein Orphanet:211 biolink:Disease Familial cylindromatosis UniProtKB:Q9NQC7 biolink:Protein Orphanet:2908 biolink:Disease Kindler epidermolysis bullosa UniProtKB:Q9BQL6 biolink:Protein Orphanet:779 biolink:Disease Reynolds syndrome UniProtKB:Q14739 biolink:Protein Orphanet:486811 biolink:Disease Prenatal-onset spinal muscular atrophy with congenital bone fractures UniProtKB:Q8N9N2 biolink:Protein UniProtKB:Q15650 biolink:Protein Orphanet:486815 biolink:Disease Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome UniProtKB:Q15650 biolink:Protein Orphanet:485418 biolink:Disease EMILIN-1-related connective tissue disease UniProtKB:Q9Y6C2 biolink:Protein Orphanet:485421 biolink:Disease MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect UniProtKB:Q9GZY8 biolink:Protein Orphanet:485350 biolink:Disease CLCN4-related X-linked intellectual disability syndrome UniProtKB:P51793 biolink:Protein Orphanet:485275 biolink:Disease Acquired schizencephaly UniProtKB:Q04743 biolink:Protein UniProtKB:O95343 biolink:Protein UniProtKB:Q15465 biolink:Protein Orphanet:482606 biolink:Disease X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome UniProtKB:P21333 biolink:Protein Orphanet:482601 biolink:Disease Adenylosuccinate synthetase-like 1-related distal myopathy UniProtKB:Q8N142 biolink:Protein Orphanet:480864 biolink:Disease Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome UniProtKB:Q6ICL3 biolink:Protein Orphanet:31837 biolink:Disease Pulmonary venoocclusive disease UniProtKB:Q13873 biolink:Protein UniProtKB:Q9P2K8 biolink:Protein Orphanet:480907 biolink:Disease X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome UniProtKB:P21675 biolink:Protein Orphanet:480898 biolink:Disease Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome UniProtKB:Q8N766 biolink:Protein Orphanet:480880 biolink:Disease X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability UniProtKB:Q93008 biolink:Protein Orphanet:31740 biolink:Disease Hypersensitivity pneumonitis UniProtKB:Q9HC84 biolink:Protein Orphanet:480556 biolink:Disease Isolated neonatal sclerosing cholangitis UniProtKB:Q9UHG0 biolink:Protein Orphanet:480541 biolink:Disease High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement UniProtKB:P01106 biolink:Protein UniProtKB:P10415 biolink:Protein UniProtKB:P41182 biolink:Protein Orphanet:31709 biolink:Disease Infantile convulsions and choreoathetosis UniProtKB:O00408 biolink:Protein UniProtKB:Q7Z6L0 biolink:Protein UniProtKB:Q9UQD0 biolink:Protein Orphanet:480851 biolink:Disease Hereditary thrombocytopenia with early-onset myelofibrosis UniProtKB:P12931 biolink:Protein Orphanet:480682 biolink:Disease POGLUT1-related limb-girdle muscular dystrophy R21 UniProtKB:Q8NBL1 biolink:Protein Orphanet:481665 biolink:Disease USP18 deficiency UniProtKB:Q9UMW8 biolink:Protein Orphanet:482077 biolink:Disease HTRA1-related autosomal dominant cerebral small vessel disease UniProtKB:Q92743 biolink:Protein Orphanet:481986 biolink:Disease Familial schizencephaly UniProtKB:P02462 biolink:Protein Orphanet:481152 biolink:Disease PYCR2-related microcephaly-progressive leukoencephalopathy UniProtKB:Q96C36 biolink:Protein Orphanet:481662 biolink:Disease Familial Chilblain lupus UniProtKB:Q9Y3Z3 biolink:Protein UniProtKB:Q9NSU2 biolink:Protein UniProtKB:Q86WV6 biolink:Protein Orphanet:480476 biolink:Disease Progressive familial intrahepatic cholestasis type 5 UniProtKB:Q96RI1 biolink:Protein Orphanet:480491 biolink:Disease MYO5B-related progressive familial intrahepatic cholestasis UniProtKB:Q9ULV0 biolink:Protein Orphanet:480483 biolink:Disease Progressive familial intrahepatic cholestasis type 4 UniProtKB:Q9UDY2 biolink:Protein Orphanet:480528 biolink:Disease Lethal hydranencephaly-diaphragmatic hernia syndrome UniProtKB:P00750 biolink:Protein Orphanet:480536 biolink:Disease MSH3-related attenuated familial adenomatous polyposis UniProtKB:P20585 biolink:Protein Orphanet:477814 biolink:Disease Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome UniProtKB:O60610 biolink:Protein Orphanet:477787 biolink:Disease Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder UniProtKB:P47712 biolink:Protein Orphanet:478029 biolink:Disease Combined oxidative phosphorylation defect type 29 UniProtKB:Q99757 biolink:Protein Orphanet:478042 biolink:Disease Combined oxidative phosphorylation defect type 30 UniProtKB:Q7L0Y3 biolink:Protein Orphanet:477993 biolink:Disease Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome UniProtKB:O60341 biolink:Protein Orphanet:477857 biolink:Disease Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency UniProtKB:P51449 biolink:Protein Orphanet:477817 biolink:Disease PMP22-RAI1 contiguous gene duplication syndrome UniProtKB:Q7Z5J4 biolink:Protein Orphanet:477831 biolink:Disease Kosaki overgrowth syndrome UniProtKB:P09619 biolink:Protein Orphanet:478049 biolink:Disease Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome UniProtKB:Q99797 biolink:Protein Orphanet:478664 biolink:Disease Hereditary sensory and autonomic neuropathy type 8 UniProtKB:Q9H4Q4 biolink:Protein Orphanet:477661 biolink:Disease IL21-related infantile inflammatory bowel disease UniProtKB:Q9HBE4 biolink:Protein Orphanet:477684 biolink:Disease Combined oxidative phosphorylation defect type 26 UniProtKB:Q32P41 biolink:Protein Orphanet:477673 biolink:Disease Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome UniProtKB:Q8TD30 biolink:Protein Orphanet:477738 biolink:Disease Pediatric multiple sclerosis UniProtKB:P01920 biolink:Protein UniProtKB:P01911 biolink:Protein Orphanet:477749 biolink:Disease Pontine autosomal dominant microangiopathy with leukoencephalopathy UniProtKB:P02462 biolink:Protein Orphanet:477742 biolink:Disease Nodular fasciitis UniProtKB:P35125 biolink:Protein UniProtKB:P35579 biolink:Protein Orphanet:477774 biolink:Disease Combined oxidative phosphorylation defect type 27 UniProtKB:Q9HA77 biolink:Protein Orphanet:476119 biolink:Disease Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome UniProtKB:Q15465 biolink:Protein Orphanet:476113 biolink:Disease Combined immunodeficiency due to TFRC deficiency UniProtKB:P02786 biolink:Protein Orphanet:476126 biolink:Disease Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome UniProtKB:O75962 biolink:Protein Orphanet:476406 biolink:Disease Congenital generalized hypercontractile muscle stiffness syndrome UniProtKB:P06753 biolink:Protein Orphanet:476394 biolink:Disease PMP2-related Charcot-Marie-Tooth disease type 1 UniProtKB:P02689 biolink:Protein Orphanet:493342 biolink:Disease Vibratory urticaria UniProtKB:Q9UHX3 biolink:Protein Orphanet:488642 biolink:Disease TELO2-related intellectual disability-neurodevelopmental disorder UniProtKB:Q9Y4R8 biolink:Protein Orphanet:488647 biolink:Disease DDX41-related hematologic malignancy predisposition syndrome UniProtKB:Q9UJV9 biolink:Protein Orphanet:488650 biolink:Disease Distal myopathy, Tateyama type UniProtKB:P56539 biolink:Protein Orphanet:488618 biolink:Disease Transketolase deficiency UniProtKB:P29401 biolink:Protein Orphanet:488627 biolink:Disease Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome UniProtKB:Q9BZE2 biolink:Protein Orphanet:488632 biolink:Disease TBCK-related intellectual disability syndrome UniProtKB:Q8TEA7 biolink:Protein Orphanet:488635 biolink:Disease Early-onset epilepsy-intellectual disability-brain anomalies syndrome UniProtKB:Q5H8A4 biolink:Protein Orphanet:488265 biolink:Disease Osteofibrous dysplasia UniProtKB:P08581 biolink:Protein Orphanet:488232 biolink:Disease Split-foot malformation-mesoaxial polydactyly syndrome UniProtKB:Q9NYL2 biolink:Protein Orphanet:488333 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2W UniProtKB:P12081 biolink:Protein Orphanet:488437 biolink:Disease SIX2-related frontonasal dysplasia UniProtKB:Q9NPC8 biolink:Protein Orphanet:488613 biolink:Disease Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome UniProtKB:P62873 biolink:Protein Orphanet:488594 biolink:Disease Autosomal recessive spastic paraplegia type 76 UniProtKB:P07384 biolink:Protein Orphanet:488197 biolink:Disease Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome Orphanet:488168 biolink:Disease Microcephaly-congenital cataract-psoriasiform dermatitis syndrome UniProtKB:Q15800 biolink:Protein Orphanet:488191 biolink:Disease Female infertility due to oocyte meiotic arrest UniProtKB:P0C1S8 biolink:Protein UniProtKB:Q96RD7 biolink:Protein UniProtKB:C9JE40 biolink:Protein UniProtKB:Q3ZCM7 biolink:Protein Orphanet:487796 biolink:Disease Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome UniProtKB:P60953 biolink:Protein Orphanet:487814 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation UniProtKB:Q96PD7 biolink:Protein Orphanet:487825 biolink:Disease Pierpont syndrome UniProtKB:Q9BZK7 biolink:Protein Orphanet:31150 biolink:Disease Tangier disease UniProtKB:O95477 biolink:Protein Orphanet:31043 biolink:Disease Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement UniProtKB:Q9Y5I7 biolink:Protein Orphanet:31112 biolink:Disease Dermatofibrosarcoma protuberans UniProtKB:P02452 biolink:Protein UniProtKB:P01127 biolink:Protein Orphanet:30924 biolink:Disease Primary hypomagnesemia with secondary hypocalcemia UniProtKB:Q9BX84 biolink:Protein Orphanet:30925 biolink:Disease Hereditary central diabetes insipidus UniProtKB:P01185 biolink:Protein Orphanet:476084 biolink:Disease BVES-related limb-girdle muscular dystrophy UniProtKB:Q8NE79 biolink:Protein Orphanet:476096 biolink:Disease Erythrokeratodermia-cardiomyopathy syndrome UniProtKB:P15924 biolink:Protein Orphanet:476102 biolink:Disease Hereditary pediatric Behçet-like disease UniProtKB:Q99607 biolink:Protein UniProtKB:P21580 biolink:Protein UniProtKB:Q04206 biolink:Protein Orphanet:476093 biolink:Disease Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome UniProtKB:Q9UJY1 biolink:Protein Orphanet:71278 biolink:Disease Congenital brain dysgenesis due to glutamine synthetase deficiency UniProtKB:P15104 biolink:Protein Orphanet:71271 biolink:Disease Split hand-split foot-deafness syndrome UniProtKB:P56178 biolink:Protein Orphanet:71275 biolink:Disease Rh deficiency syndrome UniProtKB:P18577 biolink:Protein UniProtKB:Q02161 biolink:Protein UniProtKB:Q02094 biolink:Protein Orphanet:71277 biolink:Disease Classic glucose transporter type 1 deficiency syndrome UniProtKB:P11166 biolink:Protein Orphanet:71212 biolink:Disease Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency UniProtKB:Q16836 biolink:Protein Orphanet:70592 biolink:Disease Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency UniProtKB:Q9NWZ3 biolink:Protein Orphanet:70595 biolink:Disease Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome UniProtKB:P54098 biolink:Protein UniProtKB:Q96RR1 biolink:Protein Orphanet:70594 biolink:Disease Dopa-responsive dystonia due to sepiapterin reductase deficiency UniProtKB:P35270 biolink:Protein Orphanet:70573 biolink:Disease Small cell lung cancer UniProtKB:P06400 biolink:Protein UniProtKB:P04637 biolink:Protein UniProtKB:O15350 biolink:Protein Orphanet:70587 biolink:Disease Infant acute respiratory distress syndrome UniProtKB:P07988 biolink:Protein UniProtKB:P11686 biolink:Protein UniProtKB:Q99758 biolink:Protein Orphanet:70474 biolink:Disease Leigh syndrome with cardiomyopathy UniProtKB:Q9BU61 biolink:Protein UniProtKB:O95169 biolink:Protein UniProtKB:O43819 biolink:Protein UniProtKB:Q15526 biolink:Protein UniProtKB:O75306 biolink:Protein Orphanet:70472 biolink:Disease Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type UniProtKB:P42704 biolink:Protein Orphanet:70567 biolink:Disease Cholangiocarcinoma UniProtKB:P38398 biolink:Protein UniProtKB:P51587 biolink:Protein UniProtKB:P26045 biolink:Protein Orphanet:69735 biolink:Disease Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome UniProtKB:P35713 biolink:Protein Orphanet:69737 biolink:Disease Bosley-Salih-Alorainy syndrome UniProtKB:P49639 biolink:Protein Orphanet:69739 biolink:Disease Athabaskan brainstem dysgenesis syndrome UniProtKB:P49639 biolink:Protein Orphanet:69663 biolink:Disease Low phospholipid-associated cholelithiasis UniProtKB:P21439 biolink:Protein Orphanet:69665 biolink:Disease Intrahepatic cholestasis of pregnancy UniProtKB:Q96RI1 biolink:Protein UniProtKB:O95342 biolink:Protein UniProtKB:P21439 biolink:Protein UniProtKB:O43520 biolink:Protein Orphanet:69723 biolink:Disease Tyrosinemia type 3 UniProtKB:P32754 biolink:Protein Orphanet:69127 biolink:Disease NON RARE IN EUROPE: Immunoglobulin A deficiency UniProtKB:O14836 biolink:Protein Orphanet:69126 biolink:Disease Pyogenic arthritis-pyoderma gangrenosum-acne syndrome UniProtKB:O43586 biolink:Protein Orphanet:69087 biolink:Disease Naegeli-Franceschetti-Jadassohn syndrome UniProtKB:P02533 biolink:Protein Orphanet:69088 biolink:Disease Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome UniProtKB:Q9Y6K9 biolink:Protein Orphanet:69085 biolink:Disease Limb-mammary syndrome UniProtKB:Q9H3D4 biolink:Protein Orphanet:69084 biolink:Disease Pure hair and nail ectodermal dysplasia UniProtKB:P78386 biolink:Protein UniProtKB:Q7RTS7 biolink:Protein UniProtKB:P31276 biolink:Protein Orphanet:69076 biolink:Disease Familial renal glucosuria UniProtKB:P31639 biolink:Protein Orphanet:69063 biolink:Disease Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization UniProtKB:P08473 biolink:Protein Orphanet:67046 biolink:Disease 3-methylglutaconic aciduria type 1 UniProtKB:Q13825 biolink:Protein Orphanet:67047 biolink:Disease 3-methylglutaconic aciduria type 3 UniProtKB:Q5XKP0 biolink:Protein UniProtKB:Q9H6K4 biolink:Protein Orphanet:67044 biolink:Disease Thrombocytopenia with congenital dyserythropoietic anemia UniProtKB:P15976 biolink:Protein Orphanet:67045 biolink:Disease X-linked intellectual disability with isolated growth hormone deficiency UniProtKB:P41225 biolink:Protein Orphanet:67042 biolink:Disease Late-onset retinal degeneration UniProtKB:Q9BXJ0 biolink:Protein Orphanet:67041 biolink:Disease Hyaluronidase deficiency UniProtKB:Q12794 biolink:Protein Orphanet:67038 biolink:Disease B-cell chronic lymphocytic leukemia UniProtKB:Q99572 biolink:Protein UniProtKB:A0A0B4J1V1 biolink:Protein UniProtKB:Q13315 biolink:Protein UniProtKB:P24385 biolink:Protein UniProtKB:P04637 biolink:Protein UniProtKB:Q969Q4 biolink:Protein UniProtKB:P01857 biolink:Protein UniProtKB:Q9NUX5 biolink:Protein UniProtKB:P62841 biolink:Protein UniProtKB:Q9UKT9 biolink:Protein Orphanet:67036 biolink:Disease Autosomal dominant optic atrophy and cataract UniProtKB:Q9H6K4 biolink:Protein Orphanet:66637 biolink:Disease Diaphanospondylodysostosis UniProtKB:Q8N8U9 biolink:Protein Orphanet:66634 biolink:Disease Dilated cardiomyopathy with ataxia UniProtKB:Q96DA6 biolink:Protein Orphanet:66631 biolink:Disease CEDNIK syndrome UniProtKB:O95721 biolink:Protein Orphanet:66629 biolink:Disease Goldberg-Shprintzen megacolon syndrome UniProtKB:Q96EK5 biolink:Protein Orphanet:66628 biolink:Disease Obesity due to congenital leptin deficiency UniProtKB:P41159 biolink:Protein Orphanet:65282 biolink:Disease Carvajal syndrome UniProtKB:P15924 biolink:Protein Orphanet:65285 biolink:Disease Lhermitte-Duclos disease UniProtKB:P60484 biolink:Protein Orphanet:65284 biolink:Disease Biotin-thiamine-responsive basal ganglia disease UniProtKB:Q9BZV2 biolink:Protein Orphanet:65287 biolink:Disease Beta-ureidopropionase deficiency UniProtKB:Q9UBR1 biolink:Protein Orphanet:65288 biolink:Disease Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome UniProtKB:Q7RTS3 biolink:Protein Orphanet:65684 biolink:Disease Monomelic amyotrophy UniProtKB:Q9H799 biolink:Protein UniProtKB:Q9P2H0 biolink:Protein Orphanet:65748 biolink:Disease Multiple self-healing squamous epithelioma UniProtKB:P36897 biolink:Protein Orphanet:65743 biolink:Disease Autosomal dominant multiple pterygium syndrome UniProtKB:P11055 biolink:Protein Orphanet:65759 biolink:Disease Carpenter syndrome UniProtKB:Q7Z7M0 biolink:Protein UniProtKB:Q9ULC3 biolink:Protein Orphanet:64748 biolink:Disease Dejerine-Sottas syndrome UniProtKB:Q01453 biolink:Protein UniProtKB:Q9BXM0 biolink:Protein UniProtKB:P11161 biolink:Protein UniProtKB:P25189 biolink:Protein Orphanet:64751 biolink:Disease Hereditary motor and sensory neuropathy type 5 UniProtKB:O95140 biolink:Protein Orphanet:562509 biolink:Disease Heme oxygenase-1 deficiency UniProtKB:P09601 biolink:Protein Orphanet:64752 biolink:Disease Hereditary sensory and autonomic neuropathy type 5 UniProtKB:P04629 biolink:Protein UniProtKB:P01138 biolink:Protein Orphanet:64753 biolink:Disease Spinocerebellar ataxia with axonal neuropathy type 2 UniProtKB:Q7Z333 biolink:Protein UniProtKB:Q8WYR1 biolink:Protein Orphanet:64754 biolink:Disease Nevus comedonicus syndrome UniProtKB:Q8TD19 biolink:Protein Orphanet:562528 biolink:Disease Congenital limbs-face contractures-hypotonia-developmental delay syndrome UniProtKB:Q8IZF0 biolink:Protein Orphanet:64755 biolink:Disease Becker nevus syndrome UniProtKB:P60709 biolink:Protein Orphanet:562559 biolink:Disease Anterior maxillary protrusion-strabismus-intellectual disability syndrome UniProtKB:A7XYQ1 biolink:Protein Orphanet:562538 biolink:Disease Autosomal recessive extra-oral halitosis UniProtKB:Q13228 biolink:Protein Orphanet:562569 biolink:Disease TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome UniProtKB:Q12767 biolink:Protein Orphanet:64280 biolink:Disease Childhood absence epilepsy UniProtKB:P14867 biolink:Protein UniProtKB:P18507 biolink:Protein UniProtKB:P11166 biolink:Protein UniProtKB:P28472 biolink:Protein UniProtKB:O75564 biolink:Protein UniProtKB:O95180 biolink:Protein Orphanet:64739 biolink:Disease Ovarian hyperstimulation syndrome UniProtKB:P23945 biolink:Protein Orphanet:64738 biolink:Disease NON RARE IN EUROPE: Non rare thrombophilia UniProtKB:P04070 biolink:Protein UniProtKB:P07225 biolink:Protein UniProtKB:P42898 biolink:Protein UniProtKB:P00748 biolink:Protein UniProtKB:P00734 biolink:Protein UniProtKB:P12259 biolink:Protein UniProtKB:Q9UNN8 biolink:Protein UniProtKB:P22891 biolink:Protein UniProtKB:Q9UK55 biolink:Protein UniProtKB:P00750 biolink:Protein Orphanet:64740 biolink:Disease NON RARE IN EUROPE: Recurrent acute pancreatitis UniProtKB:Q99895 biolink:Protein UniProtKB:P00995 biolink:Protein UniProtKB:P07477 biolink:Protein Orphanet:63269 biolink:Disease Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis UniProtKB:P16435 biolink:Protein Orphanet:63260 biolink:Disease Craniorachischisis UniProtKB:Q9NYF0 biolink:Protein Orphanet:63442 biolink:Disease Angel-shaped phalango-epiphyseal dysplasia UniProtKB:P43026 biolink:Protein Orphanet:63273 biolink:Disease Distal myopathy with posterior leg and anterior hand involvement UniProtKB:Q14315 biolink:Protein Orphanet:63446 biolink:Disease Acrocapitofemoral dysplasia UniProtKB:Q14623 biolink:Protein Orphanet:60040 biolink:Disease Megalencephaly-capillary malformation-polymicrogyria syndrome UniProtKB:P42336 biolink:Protein Orphanet:60033 biolink:Disease Idiopathic bronchiectasis UniProtKB:P13569 biolink:Protein UniProtKB:P37088 biolink:Protein UniProtKB:P51168 biolink:Protein UniProtKB:P51170 biolink:Protein Orphanet:59303 biolink:Disease Neonatal ichthyosis-sclerosing cholangitis syndrome UniProtKB:O95832 biolink:Protein Orphanet:59306 biolink:Disease McLeod neuroacanthocytosis syndrome UniProtKB:P51811 biolink:Protein Orphanet:60015 biolink:Disease Enlarged parietal foramina UniProtKB:Q9H161 biolink:Protein UniProtKB:P35548 biolink:Protein Orphanet:60025 biolink:Disease Pulmonary alveolar microlithiasis UniProtKB:O95436 biolink:Protein Orphanet:564178 biolink:Disease Primary hypomagnesemia-refractory seizures-intellectual disability syndrome UniProtKB:P05023 biolink:Protein Orphanet:60030 biolink:Disease Loeys-Dietz syndrome UniProtKB:O15397 biolink:Protein UniProtKB:P36897 biolink:Protein UniProtKB:P37173 biolink:Protein Orphanet:563708 biolink:Disease Syndromic congenital sodium diarrhea UniProtKB:O43291 biolink:Protein Orphanet:59181 biolink:Disease Sorsby pseudoinflammatory fundus dystrophy UniProtKB:P35625 biolink:Protein Orphanet:59135 biolink:Disease Laing early-onset distal myopathy UniProtKB:P12883 biolink:Protein Orphanet:58017 biolink:Disease Classic hairy cell leukemia UniProtKB:P15056 biolink:Protein Orphanet:57782 biolink:Disease Mazabraud syndrome UniProtKB:P63092 biolink:Protein Orphanet:55595 biolink:Disease TNP03-related limb-girdle muscular dystrophy D2 UniProtKB:Q9Y5L0 biolink:Protein Orphanet:55596 biolink:Disease HNRNPDL-related limb-girdle muscular dystrophy D3 UniProtKB:O14979 biolink:Protein Orphanet:54595 biolink:Disease Craniopharyngioma UniProtKB:P15056 biolink:Protein UniProtKB:P35222 biolink:Protein Orphanet:56304 biolink:Disease Atelosteogenesis type II UniProtKB:P50443 biolink:Protein Orphanet:56305 biolink:Disease Atelosteogenesis type III UniProtKB:O75369 biolink:Protein Orphanet:563612 biolink:Disease Isolated exencephaly UniProtKB:Q9ULK5 biolink:Protein UniProtKB:P42898 biolink:Protein Orphanet:563609 biolink:Disease Isolated anencephaly UniProtKB:Q9ULK5 biolink:Protein UniProtKB:P42898 biolink:Protein Orphanet:55880 biolink:Disease Chondrosarcoma UniProtKB:Q16394 biolink:Protein Orphanet:55654 biolink:Disease Hypotrichosis simplex UniProtKB:P48449 biolink:Protein UniProtKB:Q8WWY8 biolink:Protein UniProtKB:Q8J025 biolink:Protein UniProtKB:P46778 biolink:Protein UniProtKB:P62304 biolink:Protein UniProtKB:P43657 biolink:Protein UniProtKB:Q86SJ6 biolink:Protein Orphanet:565858 biolink:Disease Craniosynostosis-microretrognathia-severe intellectual disability syndrome UniProtKB:Q08209 biolink:Protein Orphanet:565788 biolink:Disease Infantile inflammatory bowel disease with neurological involvement UniProtKB:P01137 biolink:Protein Orphanet:565909 biolink:Disease Calpain-3-related limb-girdle muscular dystrophy D4 UniProtKB:P20807 biolink:Protein Orphanet:79233 biolink:Disease Hypoxanthine guanine phosphoribosyltransferase partial deficiency UniProtKB:P00492 biolink:Protein Orphanet:79230 biolink:Disease Hemochromatosis type 2 UniProtKB:P81172 biolink:Protein UniProtKB:Q6ZVN8 biolink:Protein Orphanet:79237 biolink:Disease Galactokinase deficiency UniProtKB:P51570 biolink:Protein Orphanet:566067 biolink:Disease CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome UniProtKB:Q15744 biolink:Protein Orphanet:79234 biolink:Disease Crigler-Najjar syndrome type 1 UniProtKB:P22309 biolink:Protein Orphanet:79235 biolink:Disease Crigler-Najjar syndrome type 2 UniProtKB:P22309 biolink:Protein Orphanet:565624 biolink:Disease Combined oxidative phosphorylation defect type 39 UniProtKB:Q969S9 biolink:Protein Orphanet:565612 biolink:Disease Primary triglyceride deposit cardiomyovasculopathy UniProtKB:Q96AD5 biolink:Protein Orphanet:79157 biolink:Disease 2-methylbutyryl-CoA dehydrogenase deficiency UniProtKB:P45954 biolink:Protein Orphanet:79155 biolink:Disease Hydroxykynureninuria UniProtKB:Q16719 biolink:Protein Orphanet:79154 biolink:Disease 2-aminoadipic 2-oxoadipic aciduria UniProtKB:Q96HY7 biolink:Protein Orphanet:79152 biolink:Disease Disseminated superficial actinic porokeratosis UniProtKB:Q03426 biolink:Protein UniProtKB:Q9BYT1 biolink:Protein UniProtKB:P53602 biolink:Protein UniProtKB:P14324 biolink:Protein Orphanet:79151 biolink:Disease Acrokeratosis verruciformis of Hopf UniProtKB:P16615 biolink:Protein Orphanet:79146 biolink:Disease Familial progressive hyperpigmentation UniProtKB:P21583 biolink:Protein Orphanet:79145 biolink:Disease Dowling-Degos disease UniProtKB:Q9NZ42 biolink:Protein UniProtKB:P13647 biolink:Protein UniProtKB:Q9H488 biolink:Protein UniProtKB:Q8NBL1 biolink:Protein Orphanet:79159 biolink:Disease Isobutyryl-CoA dehydrogenase deficiency UniProtKB:Q9UKU7 biolink:Protein Orphanet:79107 biolink:Disease Developmental malformations-deafness-dystonia syndrome UniProtKB:P60709 biolink:Protein Orphanet:566231 biolink:Disease Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha UniProtKB:P10827 biolink:Protein Orphanet:79106 biolink:Disease Eiken syndrome UniProtKB:Q03431 biolink:Protein Orphanet:566243 biolink:Disease Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta UniProtKB:P10828 biolink:Protein Orphanet:79118 biolink:Disease Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome UniProtKB:Q8NEA6 biolink:Protein Orphanet:566393 biolink:Disease Acute mast cell leukemia UniProtKB:P10721 biolink:Protein Orphanet:79113 biolink:Disease Mandibulofacial dysostosis-microcephaly syndrome UniProtKB:Q15029 biolink:Protein Orphanet:79102 biolink:Disease Thyrotoxic periodic paralysis UniProtKB:Q13698 biolink:Protein UniProtKB:P34903 biolink:Protein UniProtKB:B7U540 biolink:Protein Orphanet:79105 biolink:Disease Myxofibrosarcoma UniProtKB:P35637 biolink:Protein UniProtKB:Q70SY1 biolink:Protein UniProtKB:Q96BA8 biolink:Protein Orphanet:79101 biolink:Disease Hyperprolinemia type 2 UniProtKB:P30038 biolink:Protein Orphanet:566192 biolink:Disease Congenital autosomal recessive small-platelet thrombocytopenia UniProtKB:O15117 biolink:Protein Orphanet:79100 biolink:Disease Atrophoderma vermiculata UniProtKB:Q07954 biolink:Protein Orphanet:79095 biolink:Disease Congenital bile acid synthesis defect type 4 UniProtKB:Q9UHK6 biolink:Protein Orphanet:79094 biolink:Disease Grange syndrome UniProtKB:Q9H869 biolink:Protein Orphanet:566175 biolink:Disease Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome UniProtKB:P08174 biolink:Protein Orphanet:79096 biolink:Disease Pyridoxal phosphate-responsive seizures UniProtKB:Q9NVS9 biolink:Protein Orphanet:79134 biolink:Disease DEND syndrome UniProtKB:Q09428 biolink:Protein UniProtKB:Q14654 biolink:Protein UniProtKB:Q96I59 biolink:Protein Orphanet:79137 biolink:Disease Generalized epilepsy-paroxysmal dyskinesia syndrome UniProtKB:Q12791 biolink:Protein Orphanet:79124 biolink:Disease Hepatic veno-occlusive disease-immunodeficiency syndrome UniProtKB:Q9HB58 biolink:Protein Orphanet:566396 biolink:Disease Chronic mast cell leukemia UniProtKB:P10721 biolink:Protein Orphanet:77293 biolink:Disease Chronic visceral acid sphingomyelinase deficiency UniProtKB:P17405 biolink:Protein Orphanet:77295 biolink:Disease Odontoleukodystrophy UniProtKB:O14802 biolink:Protein Orphanet:77261 biolink:Disease Gaucher disease type 3 UniProtKB:P04062 biolink:Protein Orphanet:77292 biolink:Disease Infantile neurovisceral acid sphingomyelinase deficiency UniProtKB:P17405 biolink:Protein Orphanet:77298 biolink:Disease Anophthalmia/microphthalmia-esophageal atresia syndrome UniProtKB:P48431 biolink:Protein Orphanet:77297 biolink:Disease Majeed syndrome UniProtKB:Q92539 biolink:Protein Orphanet:567502 biolink:Disease B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome UniProtKB:Q02880 biolink:Protein Orphanet:77301 biolink:Disease Monosomy 9q22.3 UniProtKB:Q13635 biolink:Protein Orphanet:79083 biolink:Disease PPARG-related familial partial lipodystrophy UniProtKB:P37231 biolink:Protein Orphanet:79076 biolink:Disease Juvenile polyposis of infancy UniProtKB:P60484 biolink:Protein UniProtKB:P36894 biolink:Protein Orphanet:79087 biolink:Disease Acquired partial lipodystrophy UniProtKB:Q03252 biolink:Protein Orphanet:79085 biolink:Disease AKT2-related familial partial lipodystrophy UniProtKB:P31751 biolink:Protein Orphanet:79084 biolink:Disease Familial partial lipodystrophy, Köbberling type UniProtKB:P02545 biolink:Protein Orphanet:79091 biolink:Disease Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome UniProtKB:Q9UKX2 biolink:Protein Orphanet:75327 biolink:Disease North Carolina macular dystrophy Orphanet:75373 biolink:Disease Progressive bifocal chorioretinal atrophy Orphanet:75374 biolink:Disease Bradyopsia UniProtKB:Q6ZS82 biolink:Protein UniProtKB:O75916 biolink:Protein Orphanet:75376 biolink:Disease Familial drusen UniProtKB:P05156 biolink:Protein UniProtKB:P08603 biolink:Protein UniProtKB:Q12805 biolink:Protein Orphanet:75377 biolink:Disease Central areolar choroidal dystrophy UniProtKB:P43080 biolink:Protein UniProtKB:P23942 biolink:Protein UniProtKB:Q02846 biolink:Protein Orphanet:75382 biolink:Disease Oguchi disease UniProtKB:P10523 biolink:Protein UniProtKB:Q15835 biolink:Protein Orphanet:75391 biolink:Disease Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency UniProtKB:P33991 biolink:Protein Orphanet:75392 biolink:Disease Periodontal Ehlers-Danlos syndrome UniProtKB:P09871 biolink:Protein UniProtKB:P00736 biolink:Protein Orphanet:75496 biolink:Disease B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome UniProtKB:Q9UBV7 biolink:Protein Orphanet:75497 biolink:Disease X-linked Ehlers-Danlos syndrome UniProtKB:P21333 biolink:Protein Orphanet:75563 biolink:Disease X-linked sideroblastic anemia UniProtKB:P22557 biolink:Protein Orphanet:75564 biolink:Disease Acquired idiopathic sideroblastic anemia UniProtKB:Q6N021 biolink:Protein UniProtKB:O75533 biolink:Protein Orphanet:75857 biolink:Disease 6q terminal deletion syndrome UniProtKB:Q5T6L9 biolink:Protein Orphanet:75840 biolink:Disease Congenital muscular dystrophy, Ullrich type UniProtKB:P12109 biolink:Protein UniProtKB:P12110 biolink:Protein UniProtKB:P12111 biolink:Protein UniProtKB:Q99715 biolink:Protein Orphanet:75858 biolink:Disease MORM syndrome UniProtKB:Q9NRR6 biolink:Protein Orphanet:77258 biolink:Disease Trichorhinophalangeal syndrome type 1 and 3 UniProtKB:Q9UHF7 biolink:Protein Orphanet:77260 biolink:Disease Gaucher disease type 2 UniProtKB:P04062 biolink:Protein Orphanet:77259 biolink:Disease Gaucher disease type 1 UniProtKB:P04062 biolink:Protein UniProtKB:Q14108 biolink:Protein Orphanet:569821 biolink:Disease Congenital primary lymphedema of Gordon UniProtKB:P49767 biolink:Protein Orphanet:73272 biolink:Disease Growth delay due to insulin-like growth factor type 1 deficiency UniProtKB:P05019 biolink:Protein Orphanet:73273 biolink:Disease Growth delay due to insulin-like growth factor I resistance UniProtKB:P08069 biolink:Protein Orphanet:75326 biolink:Disease Retinal arterial tortuosity UniProtKB:P02462 biolink:Protein Orphanet:75249 biolink:Disease Familial isolated restrictive cardiomyopathy UniProtKB:Q14315 biolink:Protein UniProtKB:O95235 biolink:Protein UniProtKB:P19429 biolink:Protein UniProtKB:P45379 biolink:Protein UniProtKB:Q86TC9 biolink:Protein Orphanet:75234 biolink:Disease Cholesteryl ester storage disease UniProtKB:P38571 biolink:Protein Orphanet:75233 biolink:Disease Wolman disease UniProtKB:P38571 biolink:Protein Orphanet:71290 biolink:Disease Familial platelet disorder with associated myeloid malignancy UniProtKB:P41212 biolink:Protein UniProtKB:Q9UPS8 biolink:Protein UniProtKB:Q01196 biolink:Protein Orphanet:71493 biolink:Disease Familial thrombocytosis UniProtKB:P40225 biolink:Protein UniProtKB:O60674 biolink:Protein UniProtKB:P40238 biolink:Protein Orphanet:71289 biolink:Disease Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome UniProtKB:Q03112 biolink:Protein UniProtKB:P31270 biolink:Protein Orphanet:71526 biolink:Disease Obesity due to pro-opiomelanocortin deficiency UniProtKB:P01189 biolink:Protein Orphanet:71528 biolink:Disease Obesity due to prohormone convertase I deficiency UniProtKB:P29120 biolink:Protein Orphanet:71529 biolink:Disease Obesity due to melanocortin 4 receptor deficiency UniProtKB:P32245 biolink:Protein Orphanet:71517 biolink:Disease Rapid-onset dystonia-parkinsonism UniProtKB:P13637 biolink:Protein Orphanet:71518 biolink:Disease Benign paroxysmal torticollis of infancy UniProtKB:O00555 biolink:Protein Orphanet:569274 biolink:Disease Multiple mitochondrial dysfunctions syndrome type 5 UniProtKB:Q9BUE6 biolink:Protein Orphanet:569290 biolink:Disease Multiple mitochondrial dysfunctions syndrome type 6 UniProtKB:O75439 biolink:Protein Orphanet:569248 biolink:Disease Microcystic stromal tumor UniProtKB:P35222 biolink:Protein Orphanet:73229 biolink:Disease HANAC syndrome UniProtKB:P02462 biolink:Protein Orphanet:40050 biolink:Disease NON RARE IN EUROPE: Psoriatic arthritis UniProtKB:P01375 biolink:Protein Orphanet:530849 biolink:Disease Familial apolipoprotein A5 deficiency UniProtKB:Q6Q788 biolink:Protein Orphanet:39041 biolink:Disease Omenn syndrome UniProtKB:P00813 biolink:Protein UniProtKB:P15918 biolink:Protein UniProtKB:P55895 biolink:Protein UniProtKB:Q9P2D1 biolink:Protein UniProtKB:Q96SD1 biolink:Protein UniProtKB:P31785 biolink:Protein UniProtKB:P49917 biolink:Protein UniProtKB:P16871 biolink:Protein Orphanet:530838 biolink:Disease KRT1-related diffuse nonepidermolytic keratoderma UniProtKB:P04264 biolink:Protein Orphanet:39044 biolink:Disease Uveal melanoma UniProtKB:Q9NS75 biolink:Protein UniProtKB:Q92560 biolink:Protein UniProtKB:Q92560 biolink:Protein UniProtKB:P50148 biolink:Protein UniProtKB:P29992 biolink:Protein UniProtKB:O75533 biolink:Protein Orphanet:530792 biolink:Disease RELA fusion-positive ependymoma UniProtKB:C9JLR9 biolink:Protein UniProtKB:Q04206 biolink:Protein Orphanet:38874 biolink:Disease Dihydropyrimidinuria UniProtKB:Q14117 biolink:Protein Orphanet:530303 biolink:Disease Progressive dementia with neuroserpin inclusion bodies UniProtKB:Q99574 biolink:Protein Orphanet:37612 biolink:Disease Episodic ataxia type 1 UniProtKB:Q09470 biolink:Protein Orphanet:37553 biolink:Disease Andersen-Tawil syndrome UniProtKB:P63252 biolink:Protein UniProtKB:P48544 biolink:Protein Orphanet:37042 biolink:Disease Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome UniProtKB:Q9BZS1 biolink:Protein Orphanet:36899 biolink:Disease Myoclonus-dystonia syndrome UniProtKB:O43556 biolink:Protein UniProtKB:O14656 biolink:Protein UniProtKB:P14416 biolink:Protein UniProtKB:Q8N5Z5 biolink:Protein Orphanet:41751 biolink:Disease Bietti crystalline dystrophy UniProtKB:Q6ZWL3 biolink:Protein Orphanet:42062 biolink:Disease Iminoglycinuria UniProtKB:Q9NP91 biolink:Protein UniProtKB:Q495M3 biolink:Protein UniProtKB:Q96N87 biolink:Protein UniProtKB:Q695T7 biolink:Protein Orphanet:35706 biolink:Disease Glutaric acidemia type 3 UniProtKB:Q9HAC7 biolink:Protein Orphanet:35704 biolink:Disease L-Arginine:glycine amidinotransferase deficiency UniProtKB:P50440 biolink:Protein Orphanet:35710 biolink:Disease Glucose-galactose malabsorption UniProtKB:P13866 biolink:Protein Orphanet:35737 biolink:Disease Morning glory disc anomaly UniProtKB:P26367 biolink:Protein Orphanet:35708 biolink:Disease Aromatic L-amino acid decarboxylase deficiency UniProtKB:P20711 biolink:Protein Orphanet:35689 biolink:Disease Primary lateral sclerosis UniProtKB:Q9UQ90 biolink:Protein Orphanet:35701 biolink:Disease 3-hydroxy-3-methylglutaryl-CoA synthase deficiency UniProtKB:P54868 biolink:Protein Orphanet:35612 biolink:Disease Nanophthalmos UniProtKB:Q9BY79 biolink:Protein UniProtKB:Q9Y2Y6 biolink:Protein UniProtKB:P32243 biolink:Protein UniProtKB:O95475 biolink:Protein UniProtKB:Q9Y2V3 biolink:Protein UniProtKB:P47895 biolink:Protein UniProtKB:P0CW18 biolink:Protein UniProtKB:P48431 biolink:Protein UniProtKB:O76090 biolink:Protein UniProtKB:P82279 biolink:Protein Orphanet:35173 biolink:Disease X-linked dominant chondrodysplasia punctata UniProtKB:Q15125 biolink:Protein Orphanet:35664 biolink:Disease ALDH18A1-related De Barsy syndrome UniProtKB:P54886 biolink:Protein Orphanet:35120 biolink:Disease Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency UniProtKB:Q9H0P0 biolink:Protein Orphanet:35107 biolink:Disease Desmosterolosis UniProtKB:Q15392 biolink:Protein Orphanet:35099 biolink:Disease Non-syndromic bicoronal craniosynostosis UniProtKB:P22607 biolink:Protein UniProtKB:Q15915 biolink:Protein UniProtKB:Q99081 biolink:Protein UniProtKB:Q15672 biolink:Protein Orphanet:35122 biolink:Disease Congenital sucrase-isomaltase deficiency UniProtKB:P14410 biolink:Protein Orphanet:36387 biolink:Disease Generalized epilepsy with febrile seizures-plus UniProtKB:O60741 biolink:Protein UniProtKB:P35498 biolink:Protein UniProtKB:Q07699 biolink:Protein UniProtKB:Q99250 biolink:Protein UniProtKB:Q15858 biolink:Protein UniProtKB:O14764 biolink:Protein UniProtKB:P18507 biolink:Protein UniProtKB:P61266 biolink:Protein UniProtKB:Q8WXG9 biolink:Protein Orphanet:36412 biolink:Disease Hypocomplementemic urticarial vasculitis UniProtKB:Q13609 biolink:Protein Orphanet:36426 biolink:Disease Stevens-Johnson syndrome UniProtKB:P01889 biolink:Protein UniProtKB:Q13422 biolink:Protein Orphanet:36355 biolink:Disease Bleeding disorder due to P2Y12 defect UniProtKB:Q9H244 biolink:Protein Orphanet:36367 biolink:Disease Distal monosomy 1q UniProtKB:Q99592 biolink:Protein Orphanet:36383 biolink:Disease COL4A1-related familial vascular leukoencephalopathy UniProtKB:P02462 biolink:Protein Orphanet:36386 biolink:Disease Hereditary sensory and autonomic neuropathy type 1 UniProtKB:Q8WXF7 biolink:Protein UniProtKB:O15269 biolink:Protein UniProtKB:O15270 biolink:Protein UniProtKB:Q6DD88 biolink:Protein Orphanet:35878 biolink:Disease Hyperinsulinism-hyperammonemia syndrome UniProtKB:P00367 biolink:Protein Orphanet:35858 biolink:Disease Imerslund-Gräsbeck syndrome UniProtKB:Q9BXJ7 biolink:Protein UniProtKB:O60494 biolink:Protein Orphanet:35909 biolink:Disease Combined deficiency of factor V and factor VIII UniProtKB:Q8NI22 biolink:Protein UniProtKB:P49257 biolink:Protein Orphanet:33572 biolink:Disease 5-oxoprolinase deficiency UniProtKB:O14841 biolink:Protein Orphanet:33543 biolink:Disease Kleine-Levin syndrome UniProtKB:O15050 biolink:Protein Orphanet:33445 biolink:Disease Neuroectodermal melanolysosomal disease UniProtKB:Q9Y4I1 biolink:Protein Orphanet:535458 biolink:Disease Familial GPIHBP1 deficiency UniProtKB:Q8IV16 biolink:Protein Orphanet:33402 biolink:Disease Pediatric hepatocellular carcinoma UniProtKB:P08581 biolink:Protein UniProtKB:P35222 biolink:Protein Orphanet:34217 biolink:Disease Naxos disease UniProtKB:P14923 biolink:Protein Orphanet:34145 biolink:Disease NON RARE IN EUROPE: Berger disease UniProtKB:P12821 biolink:Protein Orphanet:33574 biolink:Disease Glutamate-cysteine ligase deficiency UniProtKB:P48506 biolink:Protein Orphanet:33573 biolink:Disease Gamma-glutamyl transpeptidase deficiency UniProtKB:P19440 biolink:Protein Orphanet:33110 biolink:Disease Autosomal agammaglobulinemia UniProtKB:P01871 biolink:Protein UniProtKB:P15814 biolink:Protein UniProtKB:Q8IWT6 biolink:Protein UniProtKB:P15923 biolink:Protein UniProtKB:P11912 biolink:Protein UniProtKB:P40259 biolink:Protein UniProtKB:Q8WV28 biolink:Protein UniProtKB:P27986 biolink:Protein Orphanet:33108 biolink:Disease Lethal multiple pterygium syndrome UniProtKB:P20929 biolink:Protein UniProtKB:Q13702 biolink:Protein UniProtKB:P21817 biolink:Protein UniProtKB:P02708 biolink:Protein UniProtKB:Q07001 biolink:Protein UniProtKB:P07510 biolink:Protein Orphanet:33067 biolink:Disease Metaphyseal chondrodysplasia, Jansen type UniProtKB:Q03431 biolink:Protein Orphanet:33069 biolink:Disease Dravet syndrome UniProtKB:P35498 biolink:Protein UniProtKB:Q07699 biolink:Protein UniProtKB:Q15858 biolink:Protein UniProtKB:P14867 biolink:Protein UniProtKB:P18507 biolink:Protein UniProtKB:Q8TAB3 biolink:Protein UniProtKB:Q99250 biolink:Protein Orphanet:33001 biolink:Disease Lymphedema-distichiasis syndrome UniProtKB:Q99958 biolink:Protein Orphanet:33355 biolink:Disease Reticular dysgenesis UniProtKB:P54819 biolink:Protein Orphanet:535453 biolink:Disease Familial lipase maturation factor 1 deficiency UniProtKB:Q96S06 biolink:Protein Orphanet:33364 biolink:Disease Trichothiodystrophy UniProtKB:Q8TAP9 biolink:Protein UniProtKB:P18074 biolink:Protein UniProtKB:Q6ZYL4 biolink:Protein UniProtKB:P19447 biolink:Protein UniProtKB:O15541 biolink:Protein UniProtKB:P29084 biolink:Protein UniProtKB:P26639 biolink:Protein UniProtKB:P49589 biolink:Protein Orphanet:33271 biolink:Disease NON RARE IN EUROPE: Non-alcoholic fatty liver disease UniProtKB:P02656 biolink:Protein UniProtKB:Q9NST1 biolink:Protein Orphanet:33226 biolink:Disease Waldenström macroglobulinemia UniProtKB:Q99836 biolink:Protein Orphanet:35056 biolink:Disease NON RARE IN EUROPE: Trimethylaminuria UniProtKB:P31513 biolink:Protein Orphanet:35069 biolink:Disease Infantile neuroaxonal dystrophy UniProtKB:O60733 biolink:Protein Orphanet:35093 biolink:Disease Non-syndromic sagittal craniosynostosis UniProtKB:Q9H161 biolink:Protein UniProtKB:P50548 biolink:Protein UniProtKB:Q15672 biolink:Protein Orphanet:35078 biolink:Disease T-B+ severe combined immunodeficiency due to JAK3 deficiency UniProtKB:P52333 biolink:Protein Orphanet:34520 biolink:Disease Congenital muscular dystrophy with integrin alpha-7 deficiency UniProtKB:Q13683 biolink:Protein Orphanet:34514 biolink:Disease Telethonin-related limb-girdle muscular dystrophy R7 UniProtKB:O15273 biolink:Protein Orphanet:34515 biolink:Disease FKRP-related limb-girdle muscular dystrophy R9 UniProtKB:Q9H9S5 biolink:Protein Orphanet:34516 biolink:Disease DNAJB6-related limb-girdle muscular dystrophy D1 UniProtKB:O75190 biolink:Protein Orphanet:34587 biolink:Disease Glycogen storage disease due to LAMP-2 deficiency UniProtKB:P13473 biolink:Protein Orphanet:34592 biolink:Disease Immunodeficiency by defective expression of MHC class I UniProtKB:Q03519 biolink:Protein UniProtKB:Q03518 biolink:Protein UniProtKB:O15533 biolink:Protein UniProtKB:P61769 biolink:Protein Orphanet:34528 biolink:Disease Autosomal dominant primary hypomagnesemia with hypocalciuria UniProtKB:P54710 biolink:Protein Orphanet:536516 biolink:Disease Myopathic Ehlers-Danlos syndrome UniProtKB:Q99715 biolink:Protein Orphanet:536467 biolink:Disease B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome UniProtKB:Q96L58 biolink:Protein Orphanet:536532 biolink:Disease Classical-like Ehlers-Danlos syndrome type 2 UniProtKB:Q8IUX7 biolink:Protein Orphanet:537072 biolink:Disease PLG-related hereditary angioedema with normal C1Inh UniProtKB:P00747 biolink:Protein Orphanet:32960 biolink:Disease Tumor necrosis factor receptor 1 associated periodic syndrome UniProtKB:P19438 biolink:Protein Orphanet:52530 biolink:Disease Pseudo-von Willebrand disease UniProtKB:P07359 biolink:Protein Orphanet:52429 biolink:Disease Branchiootic syndrome UniProtKB:Q99502 biolink:Protein UniProtKB:Q15475 biolink:Protein Orphanet:52503 biolink:Disease X-linked creatine transporter deficiency UniProtKB:P48029 biolink:Protein Orphanet:52430 biolink:Disease Inclusion body myopathy with Paget disease of bone and frontotemporal dementia UniProtKB:P55072 biolink:Protein UniProtKB:P22626 biolink:Protein UniProtKB:P09651 biolink:Protein Orphanet:52416 biolink:Disease Mantle cell lymphoma UniProtKB:P24385 biolink:Protein UniProtKB:Q13315 biolink:Protein UniProtKB:Q6P089 biolink:Protein Orphanet:52427 biolink:Disease Retinitis punctata albescens UniProtKB:P23942 biolink:Protein UniProtKB:Q92781 biolink:Protein UniProtKB:P08100 biolink:Protein UniProtKB:P12271 biolink:Protein Orphanet:52417 biolink:Disease MALT lymphoma UniProtKB:Q9UDY8 biolink:Protein UniProtKB:Q13489 biolink:Protein UniProtKB:Q6P089 biolink:Protein UniProtKB:Q9H334 biolink:Protein UniProtKB:O95999 biolink:Protein Orphanet:52055 biolink:Disease Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome UniProtKB:P78318 biolink:Protein Orphanet:52368 biolink:Disease Mohr-Tranebjaerg syndrome UniProtKB:O60220 biolink:Protein Orphanet:53271 biolink:Disease Muenke syndrome UniProtKB:P22607 biolink:Protein Orphanet:53347 biolink:Disease Brody myopathy UniProtKB:O14983 biolink:Protein Orphanet:53035 biolink:Disease Caroli disease UniProtKB:P08F94 biolink:Protein Orphanet:52901 biolink:Disease Isolated follicle stimulating hormone deficiency UniProtKB:P01225 biolink:Protein Orphanet:53690 biolink:Disease Congenital lactase deficiency UniProtKB:P09848 biolink:Protein Orphanet:53689 biolink:Disease Congenital chloride diarrhea UniProtKB:P40879 biolink:Protein Orphanet:538574 biolink:Disease Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome UniProtKB:P04264 biolink:Protein UniProtKB:P25189 biolink:Protein Orphanet:53583 biolink:Disease Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity UniProtKB:P11166 biolink:Protein Orphanet:53540 biolink:Disease Goldmann-Favre syndrome UniProtKB:Q9Y5X4 biolink:Protein Orphanet:53351 biolink:Disease X-linked dystonia-parkinsonism UniProtKB:P21675 biolink:Protein Orphanet:54260 biolink:Disease Left ventricular noncompaction UniProtKB:Q8IWE5 biolink:Protein UniProtKB:P45379 biolink:Protein UniProtKB:Q99959 biolink:Protein UniProtKB:P68032 biolink:Protein UniProtKB:P09493 biolink:Protein UniProtKB:Q9Y4J8 biolink:Protein UniProtKB:Q14896 biolink:Protein UniProtKB:P12883 biolink:Protein UniProtKB:O75112 biolink:Protein UniProtKB:P02545 biolink:Protein UniProtKB:Q86YT6 biolink:Protein UniProtKB:Q9HAZ2 biolink:Protein UniProtKB:A7E2Y1 biolink:Protein UniProtKB:Q96AX9 biolink:Protein Orphanet:538934 biolink:Disease X-linked lymphoproliferative disease due to XIAP deficiency UniProtKB:P98170 biolink:Protein Orphanet:538931 biolink:Disease X-linked lymphoproliferative disease due to SH2D1A deficiency UniProtKB:O60880 biolink:Protein Orphanet:53698 biolink:Disease Myosin storage myopathy UniProtKB:P12883 biolink:Protein Orphanet:53696 biolink:Disease Arthrogryposis-anterior horn cell disease syndrome UniProtKB:Q53GS7 biolink:Protein Orphanet:53697 biolink:Disease Gnathodiaphyseal dysplasia UniProtKB:Q75V66 biolink:Protein Orphanet:53691 biolink:Disease Congenital cornea plana UniProtKB:O60938 biolink:Protein Orphanet:53693 biolink:Disease GRACILE syndrome UniProtKB:Q9Y276 biolink:Protein Orphanet:48818 biolink:Disease Aceruloplasminemia UniProtKB:P00450 biolink:Protein Orphanet:49382 biolink:Disease Achromatopsia UniProtKB:P51160 biolink:Protein UniProtKB:Q92834 biolink:Protein UniProtKB:Q16281 biolink:Protein UniProtKB:Q9NQW8 biolink:Protein UniProtKB:Q13956 biolink:Protein UniProtKB:P19087 biolink:Protein UniProtKB:P18850 biolink:Protein Orphanet:538958 biolink:Disease Combined immunodeficiency due to CD70 deficiency UniProtKB:P32970 biolink:Protein Orphanet:48431 biolink:Disease Congenital cataracts-facial dysmorphism-neuropathy syndrome UniProtKB:Q9Y5B0 biolink:Protein Orphanet:538963 biolink:Disease Combined immunodeficiency due to ITK deficiency UniProtKB:Q08881 biolink:Protein Orphanet:48652 biolink:Disease Monosomy 22q13.3 UniProtKB:Q9BYB0 biolink:Protein Orphanet:50814 biolink:Disease Craniolenticulosutural dysplasia UniProtKB:Q15436 biolink:Protein Orphanet:49827 biolink:Disease Thiamine-responsive megaloblastic anemia syndrome UniProtKB:O60779 biolink:Protein Orphanet:50251 biolink:Disease Pleural mesothelioma UniProtKB:Q92560 biolink:Protein Orphanet:50945 biolink:Disease Blomstrand lethal chondrodysplasia UniProtKB:Q03431 biolink:Protein Orphanet:50944 biolink:Disease Schöpf-Schulz-Passarge syndrome UniProtKB:Q9GZT5 biolink:Protein Orphanet:51083 biolink:Disease Familial short QT syndrome UniProtKB:P48751 biolink:Protein UniProtKB:P63252 biolink:Protein UniProtKB:Q12809 biolink:Protein UniProtKB:P51787 biolink:Protein UniProtKB:P54289 biolink:Protein Orphanet:50943 biolink:Disease Keratolytic winter erythema UniProtKB:P07858 biolink:Protein Orphanet:50942 biolink:Disease Striate palmoplantar keratoderma UniProtKB:P15924 biolink:Protein UniProtKB:P04264 biolink:Protein UniProtKB:Q02413 biolink:Protein Orphanet:52022 biolink:Disease Potocki-Shaffer syndrome UniProtKB:Q9H161 biolink:Protein UniProtKB:Q93063 biolink:Protein UniProtKB:Q96BD5 biolink:Protein Orphanet:51608 biolink:Disease Generalized arterial calcification of infancy UniProtKB:O95255 biolink:Protein UniProtKB:P22413 biolink:Protein Orphanet:51188 biolink:Disease Ethylmalonic encephalopathy UniProtKB:O95571 biolink:Protein Orphanet:541423 biolink:Disease Growth delay-intellectual disability-hepatopathy syndrome UniProtKB:P41252 biolink:Protein Orphanet:51208 biolink:Disease Formiminoglutamic aciduria UniProtKB:O95954 biolink:Protein Orphanet:51636 biolink:Disease WHIM syndrome UniProtKB:P61073 biolink:Protein Orphanet:542306 biolink:Disease GNB5-related intellectual disability-cardiac arrhythmia syndrome UniProtKB:O14775 biolink:Protein Orphanet:542301 biolink:Disease Combined immunodeficiency due to CARMIL2 deficiency UniProtKB:Q6F5E8 biolink:Protein Orphanet:542310 biolink:Disease Leukoencephalopathy with calcifications and cysts Orphanet:42665 biolink:Disease Tietz syndrome UniProtKB:O75030 biolink:Protein Orphanet:542585 biolink:Disease Auditory neuropathy-optic atrophy syndrome UniProtKB:P22570 biolink:Protein Orphanet:43115 biolink:Disease Hereditary myopathy with lactic acidosis due to ISCU deficiency UniProtKB:Q9H1K1 biolink:Protein Orphanet:45448 biolink:Disease Miyoshi myopathy UniProtKB:O75923 biolink:Protein Orphanet:543470 biolink:Disease Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome UniProtKB:P22570 biolink:Protein Orphanet:542657 biolink:Disease Isolated hyperchlorhidrosis UniProtKB:O43570 biolink:Protein Orphanet:44890 biolink:Disease Gastrointestinal stromal tumor UniProtKB:P31040 biolink:Protein UniProtKB:P21912 biolink:Protein UniProtKB:Q99643 biolink:Protein UniProtKB:P10721 biolink:Protein UniProtKB:P10721 biolink:Protein UniProtKB:P16234 biolink:Protein Orphanet:45358 biolink:Disease Congenital fibrosis of extraocular muscles UniProtKB:O14813 biolink:Protein UniProtKB:Q7Z4S6 biolink:Protein UniProtKB:Q13509 biolink:Protein UniProtKB:Q9BVA1 biolink:Protein Orphanet:544254 biolink:Disease SYNGAP1-related developmental and epileptic encephalopathy UniProtKB:Q96PV0 biolink:Protein Orphanet:46348 biolink:Disease Paroxysmal extreme pain disorder UniProtKB:Q9Y5Y9 biolink:Protein UniProtKB:Q9UI33 biolink:Protein UniProtKB:Q15858 biolink:Protein Orphanet:46059 biolink:Disease Lathosterolosis UniProtKB:O75845 biolink:Protein Orphanet:47044 biolink:Disease Hereditary papillary renal cell carcinoma UniProtKB:P08581 biolink:Protein Orphanet:46627 biolink:Disease Char syndrome UniProtKB:Q92481 biolink:Protein Orphanet:46532 biolink:Disease Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome UniProtKB:P68871 biolink:Protein UniProtKB:P69891 biolink:Protein UniProtKB:P69892 biolink:Protein UniProtKB:Q13351 biolink:Protein Orphanet:544503 biolink:Disease RNF13-related severe early-onset epileptic encephalopathy UniProtKB:O43567 biolink:Protein Orphanet:544488 biolink:Disease Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome UniProtKB:P11926 biolink:Protein Orphanet:544469 biolink:Disease PRUNE1-related neurological syndrome UniProtKB:Q86TP1 biolink:Protein Orphanet:544472 biolink:Disease Atypical hemolytic uremic syndrome with complement gene abnormality UniProtKB:P01024 biolink:Protein UniProtKB:P15529 biolink:Protein UniProtKB:P00751 biolink:Protein UniProtKB:P08603 biolink:Protein UniProtKB:P05156 biolink:Protein UniProtKB:P07204 biolink:Protein Orphanet:47045 biolink:Disease Familial cold urticaria UniProtKB:Q96P20 biolink:Protein Orphanet:544628 biolink:Disease Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome UniProtKB:P41235 biolink:Protein Orphanet:544602 biolink:Disease Congenital myopathy with reduced type 2 muscle fibers UniProtKB:P05976 biolink:Protein Orphanet:555402 biolink:Disease NAD(P)HX dehydratase deficiency UniProtKB:Q8IW45 biolink:Protein Orphanet:555407 biolink:Disease NAD(P)HX epimerase deficiency UniProtKB:Q8NCW5 biolink:Protein Orphanet:555877 biolink:Disease FLNA-related X-linked myxomatous valvular dysplasia UniProtKB:P21333 biolink:Protein Orphanet:556030 biolink:Disease Early-onset familial hypoaldosteronism UniProtKB:P19099 biolink:Protein Orphanet:556985 biolink:Disease Early-onset calcifying leukoencephalopathy-skeletal dysplasia UniProtKB:P07333 biolink:Protein Orphanet:556955 biolink:Disease Pancreatic agenesis-holoprosencephaly syndrome UniProtKB:A5YKK6 biolink:Protein Orphanet:557064 biolink:Disease Neonatal epileptic encephalopathy due to glutaminase deficiency UniProtKB:O94925 biolink:Protein Orphanet:557056 biolink:Disease Spastic ataxia-dysarthria due to glutaminase deficiency UniProtKB:O94925 biolink:Protein Orphanet:557003 biolink:Disease Oculoskeletodental syndrome UniProtKB:O00443 biolink:Protein Orphanet:519388 biolink:Disease Autosomal recessive anterior segment dysgenesis UniProtKB:Q8IZJ3 biolink:Protein Orphanet:90050 biolink:Disease Retinopathy of prematurity UniProtKB:O75197 biolink:Protein UniProtKB:Q9ULV1 biolink:Protein UniProtKB:Q00604 biolink:Protein Orphanet:90045 biolink:Disease Hereditary folate malabsorption UniProtKB:Q96NT5 biolink:Protein Orphanet:90039 biolink:Disease Hemoglobin D disease UniProtKB:P68871 biolink:Protein Orphanet:90044 biolink:Disease Familial pseudohyperkalemia UniProtKB:Q9NP58 biolink:Protein Orphanet:90042 biolink:Disease Primary familial polycythemia UniProtKB:P19235 biolink:Protein Orphanet:90024 biolink:Disease Deafness with labyrinthine aplasia, microtia, and microdontia UniProtKB:P11487 biolink:Protein Orphanet:90023 biolink:Disease Primary immunodeficiency syndrome due to LAMTOR2 deficiency UniProtKB:Q9Y2Q5 biolink:Protein Orphanet:90020 biolink:Disease Parkinson-dementia complex of Guam UniProtKB:Q99497 biolink:Protein UniProtKB:Q96QT4 biolink:Protein Orphanet:90031 biolink:Disease Non-spherocytic hemolytic anemia due to hexokinase deficiency UniProtKB:P19367 biolink:Protein Orphanet:90026 biolink:Disease Primary erythromelalgia UniProtKB:Q15858 biolink:Protein UniProtKB:Q9Y5Y9 biolink:Protein UniProtKB:Q9UI33 biolink:Protein Orphanet:90030 biolink:Disease Hemolytic anemia due to glutathione reductase deficiency UniProtKB:P00390 biolink:Protein Orphanet:89936 biolink:Disease X-linked hypophosphatemia UniProtKB:P78562 biolink:Protein Orphanet:89844 biolink:Disease Lissencephaly syndrome, Norman-Roberts type UniProtKB:Q9NXR1 biolink:Protein UniProtKB:Q9BVA0 biolink:Protein UniProtKB:P78509 biolink:Protein Orphanet:89843 biolink:Disease Dystrophic epidermolysis bullosa pruriginosa UniProtKB:Q02388 biolink:Protein Orphanet:89842 biolink:Disease Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form UniProtKB:Q02388 biolink:Protein Orphanet:90001 biolink:Disease X-linked cone dysfunction syndrome with myopia UniProtKB:P04001 biolink:Protein UniProtKB:P04000 biolink:Protein Orphanet:89938 biolink:Disease Bartter syndrome type 4 UniProtKB:Q8WZ55 biolink:Protein UniProtKB:P51801 biolink:Protein UniProtKB:P51800 biolink:Protein Orphanet:89937 biolink:Disease Autosomal dominant hypophosphatemic rickets UniProtKB:Q9GZV9 biolink:Protein Orphanet:90340 biolink:Disease Blau syndrome UniProtKB:Q9HC29 biolink:Protein Orphanet:90342 biolink:Disease Xeroderma pigmentosum variant UniProtKB:Q9Y253 biolink:Protein Orphanet:90348 biolink:Disease Autosomal dominant cutis laxa UniProtKB:P54886 biolink:Protein UniProtKB:Q9UBX5 biolink:Protein UniProtKB:P15502 biolink:Protein Orphanet:90349 biolink:Disease Autosomal recessive cutis laxa type 1 UniProtKB:O95967 biolink:Protein UniProtKB:Q9UBX5 biolink:Protein UniProtKB:Q14766 biolink:Protein Orphanet:90354 biolink:Disease Brittle cornea syndrome UniProtKB:Q96JG9 biolink:Protein UniProtKB:Q9NQX1 biolink:Protein Orphanet:90308 biolink:Disease Klippel-Trénaunay syndrome UniProtKB:Q8N302 biolink:Protein Orphanet:90307 biolink:Disease Parkes Weber syndrome UniProtKB:P20936 biolink:Protein Orphanet:90322 biolink:Disease Cockayne syndrome type 2 UniProtKB:Q03468 biolink:Protein UniProtKB:Q13216 biolink:Protein UniProtKB:P07992 biolink:Protein Orphanet:90321 biolink:Disease Cockayne syndrome type 1 UniProtKB:Q92889 biolink:Protein UniProtKB:Q03468 biolink:Protein UniProtKB:Q13216 biolink:Protein Orphanet:90324 biolink:Disease Cockayne syndrome type 3 UniProtKB:Q03468 biolink:Protein UniProtKB:Q13216 biolink:Protein Orphanet:90153 biolink:Disease Mandibuloacral dysplasia with type A lipodystrophy UniProtKB:O75431 biolink:Protein UniProtKB:P02545 biolink:Protein Orphanet:90154 biolink:Disease Mandibuloacral dysplasia with type B lipodystrophy UniProtKB:O75844 biolink:Protein Orphanet:90186 biolink:Disease Meige disease UniProtKB:P54760 biolink:Protein Orphanet:90118 biolink:Disease Severe early-onset axonal neuropathy due to MFN2 deficiency UniProtKB:O95140 biolink:Protein Orphanet:90117 biolink:Disease Hereditary motor and sensory neuropathy, Okinawa type UniProtKB:Q92734 biolink:Protein Orphanet:90120 biolink:Disease Hereditary motor and sensory neuropathy type 6 UniProtKB:Q96AG3 biolink:Protein UniProtKB:O95140 biolink:Protein Orphanet:88644 biolink:Disease Autosomal recessive ataxia, Beauce type UniProtKB:Q8NF91 biolink:Protein Orphanet:88637 biolink:Disease Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome UniProtKB:Q9NW08 biolink:Protein UniProtKB:O15160 biolink:Protein UniProtKB:O14802 biolink:Protein Orphanet:88639 biolink:Disease Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency UniProtKB:Q6NVY1 biolink:Protein Orphanet:88642 biolink:Disease Congenital insensitivity to pain-anosmia-neuropathic arthropathy UniProtKB:Q15858 biolink:Protein UniProtKB:Q9Y5Y9 biolink:Protein UniProtKB:Q9UI33 biolink:Protein Orphanet:88635 biolink:Disease Vacuolar myopathy with sarcoplasmic reticulum protein aggregates UniProtKB:P31415 biolink:Protein Orphanet:88621 biolink:Disease Ichthyosis-prematurity syndrome UniProtKB:Q6P1M0 biolink:Protein Orphanet:88628 biolink:Disease Posterior column ataxia-retinitis pigmentosa syndrome UniProtKB:Q9Y5Y0 biolink:Protein Orphanet:88629 biolink:Disease Tritanopia UniProtKB:P03999 biolink:Protein Orphanet:88630 biolink:Disease Terminal osseous dysplasia-pigmentary defects syndrome UniProtKB:P21333 biolink:Protein Orphanet:88620 biolink:Disease Isolated congenital anosmia UniProtKB:Q9UKZ4 biolink:Protein UniProtKB:Q16280 biolink:Protein Orphanet:88619 biolink:Disease Familial acute necrotizing encephalopathy UniProtKB:P49792 biolink:Protein Orphanet:88618 biolink:Disease S-adenosylhomocysteine hydrolase deficiency UniProtKB:P23526 biolink:Protein Orphanet:88616 biolink:Disease Autosomal recessive non-syndromic intellectual disability UniProtKB:Q96C86 biolink:Protein UniProtKB:Q8NCR0 biolink:Protein UniProtKB:P29218 biolink:Protein UniProtKB:Q9BZC7 biolink:Protein UniProtKB:P42261 biolink:Protein UniProtKB:Q5BJH7 biolink:Protein UniProtKB:Q12904 biolink:Protein UniProtKB:Q9NUQ7 biolink:Protein UniProtKB:Q96SW2 biolink:Protein UniProtKB:Q13454 biolink:Protein UniProtKB:Q9NZ01 biolink:Protein UniProtKB:Q13002 biolink:Protein UniProtKB:Q2M389 biolink:Protein UniProtKB:Q96Q05 biolink:Protein UniProtKB:P56730 biolink:Protein UniProtKB:Q9ULK4 biolink:Protein UniProtKB:Q11203 biolink:Protein UniProtKB:P78560 biolink:Protein UniProtKB:Q6PJT7 biolink:Protein UniProtKB:Q08J23 biolink:Protein UniProtKB:Q8NG48 biolink:Protein UniProtKB:Q75T13 biolink:Protein UniProtKB:Q86XA0 biolink:Protein UniProtKB:P30622 biolink:Protein UniProtKB:Q5XUX0 biolink:Protein UniProtKB:P52848 biolink:Protein UniProtKB:Q9NZ56 biolink:Protein UniProtKB:Q96F86 biolink:Protein UniProtKB:P50135 biolink:Protein UniProtKB:P15311 biolink:Protein UniProtKB:Q9H0V9 biolink:Protein UniProtKB:O60524 biolink:Protein UniProtKB:Q14831 biolink:Protein UniProtKB:Q6DN90 biolink:Protein UniProtKB:Q9UKE5 biolink:Protein UniProtKB:Q9UBB6 biolink:Protein UniProtKB:Q14139 biolink:Protein UniProtKB:Q8N0Z6 biolink:Protein UniProtKB:Q92535 biolink:Protein UniProtKB:Q9Y2W3 biolink:Protein UniProtKB:Q8TEQ6 biolink:Protein UniProtKB:Q9P0K9 biolink:Protein UniProtKB:Q96BT7 biolink:Protein UniProtKB:Q96N66 biolink:Protein UniProtKB:Q9NQ89 biolink:Protein UniProtKB:P49591 biolink:Protein UniProtKB:Q96IZ7 biolink:Protein UniProtKB:Q71SY5 biolink:Protein UniProtKB:P61599 biolink:Protein UniProtKB:Q6P1N0 biolink:Protein UniProtKB:Q9UKM7 biolink:Protein UniProtKB:P12270 biolink:Protein UniProtKB:Q9UGL1 biolink:Protein UniProtKB:P24534 biolink:Protein Orphanet:87503 biolink:Disease Mal de Meleda UniProtKB:P55000 biolink:Protein Orphanet:86923 biolink:Disease Hereditary palmoplantar keratoderma, Gamborg-Nielsen type UniProtKB:P55000 biolink:Protein UniProtKB:Q8IW75 biolink:Protein Orphanet:86920 biolink:Disease Dermatopathia pigmentosa reticularis UniProtKB:P02533 biolink:Protein Orphanet:522077 biolink:Disease Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome UniProtKB:P21579 biolink:Protein Orphanet:86911 biolink:Disease Epilepsy with myoclonic absences UniProtKB:P11166 biolink:Protein Orphanet:521450 biolink:Disease LAMA5-related multisystemic syndrome UniProtKB:O15230 biolink:Protein Orphanet:521445 biolink:Disease Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome UniProtKB:Q8N6G6 biolink:Protein Orphanet:521438 biolink:Disease Congenital vertebral-cardiac-renal anomalies syndrome UniProtKB:Q16719 biolink:Protein UniProtKB:Q6IA69 biolink:Protein UniProtKB:P46952 biolink:Protein Orphanet:521432 biolink:Disease Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome UniProtKB:Q16850 biolink:Protein Orphanet:521426 biolink:Disease PLAA-associated neurodevelopmental disorder UniProtKB:Q9Y263 biolink:Protein Orphanet:521414 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2DD UniProtKB:P05023 biolink:Protein Orphanet:521258 biolink:Disease Xq25 microduplication syndrome UniProtKB:Q8N3U4 biolink:Protein Orphanet:521305 biolink:Disease Proximal myopathy with focal depletion of mitochondria UniProtKB:Q9Y259 biolink:Protein Orphanet:521390 biolink:Disease Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome UniProtKB:Q9ULH0 biolink:Protein Orphanet:521399 biolink:Disease NON RARE IN EUROPE: Non rare obesity UniProtKB:Q6VAB6 biolink:Protein Orphanet:521406 biolink:Disease Dystonia-parkinsonism-hypermanganesemia syndrome UniProtKB:Q15043 biolink:Protein Orphanet:89838 biolink:Disease Autosomal recessive generalized epidermolysis bullosa simplex UniProtKB:P02533 biolink:Protein Orphanet:521411 biolink:Disease Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect UniProtKB:O43819 biolink:Protein Orphanet:88949 biolink:Disease MUC1-related autosomal dominant tubulointerstitial kidney disease UniProtKB:P15941 biolink:Protein Orphanet:88950 biolink:Disease UMOD-related autosomal dominant tubulointerstitial kidney disease UniProtKB:P07911 biolink:Protein Orphanet:88940 biolink:Disease Pseudohypoaldosteronism type 2C UniProtKB:Q9H4A3 biolink:Protein Orphanet:88939 biolink:Disease Pseudohypoaldosteronism type 2B UniProtKB:Q96J92 biolink:Protein Orphanet:88924 biolink:Disease Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis UniProtKB:P49815 biolink:Protein UniProtKB:P98161 biolink:Protein Orphanet:88918 biolink:Disease Autosomal dominant Alport syndrome UniProtKB:Q01955 biolink:Protein UniProtKB:P53420 biolink:Protein Orphanet:88919 biolink:Disease Autosomal recessive Alport syndrome UniProtKB:Q01955 biolink:Protein UniProtKB:P53420 biolink:Protein Orphanet:88917 biolink:Disease X-linked Alport syndrome UniProtKB:P29400 biolink:Protein Orphanet:93256 biolink:Disease Fragile X-associated tremor/ataxia syndrome UniProtKB:Q06787 biolink:Protein Orphanet:528105 biolink:Disease Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome UniProtKB:P78369 biolink:Protein Orphanet:528091 biolink:Disease Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome UniProtKB:Q15031 biolink:Protein Orphanet:528084 biolink:Disease Non-specific syndromic intellectual disability UniProtKB:Q9ULJ6 biolink:Protein UniProtKB:Q96PZ0 biolink:Protein UniProtKB:Q9Y296 biolink:Protein UniProtKB:Q9NTJ4 biolink:Protein UniProtKB:Q92560 biolink:Protein UniProtKB:Q14669 biolink:Protein UniProtKB:Q8TF50 biolink:Protein UniProtKB:Q5H9F3 biolink:Protein UniProtKB:Q8TDI0 biolink:Protein UniProtKB:Q16650 biolink:Protein UniProtKB:Q8IZD2 biolink:Protein UniProtKB:Q8N300 biolink:Protein UniProtKB:Q9UKB1 biolink:Protein UniProtKB:O75179 biolink:Protein UniProtKB:Q5UCC4 biolink:Protein UniProtKB:Q9H6U6 biolink:Protein UniProtKB:Q01082 biolink:Protein UniProtKB:Q68DH5 biolink:Protein UniProtKB:Q9NXH9 biolink:Protein UniProtKB:Q9H0R3 biolink:Protein UniProtKB:Q96G74 biolink:Protein UniProtKB:O43151 biolink:Protein UniProtKB:Q8IUQ4 biolink:Protein UniProtKB:P60763 biolink:Protein UniProtKB:Q14320 biolink:Protein UniProtKB:Q9UBW7 biolink:Protein UniProtKB:O43747 biolink:Protein UniProtKB:Q01826 biolink:Protein UniProtKB:Q9UPQ9 biolink:Protein UniProtKB:Q6ZRS2 biolink:Protein UniProtKB:Q99496 biolink:Protein UniProtKB:O60506 biolink:Protein UniProtKB:P62879 biolink:Protein UniProtKB:Q6P2Q9 biolink:Protein UniProtKB:Q92823 biolink:Protein UniProtKB:P62805 biolink:Protein UniProtKB:Q13009 biolink:Protein UniProtKB:Q8IZQ1 biolink:Protein UniProtKB:Q9Y2I2 biolink:Protein UniProtKB:O75175 biolink:Protein UniProtKB:Q8N806 biolink:Protein UniProtKB:Q92558 biolink:Protein UniProtKB:O15047 biolink:Protein UniProtKB:Q8WXG6 biolink:Protein UniProtKB:Q96CW9 biolink:Protein UniProtKB:P62805 biolink:Protein UniProtKB:Q9BV29 biolink:Protein UniProtKB:Q8N3R9 biolink:Protein UniProtKB:O94953 biolink:Protein UniProtKB:O94805 biolink:Protein UniProtKB:P78352 biolink:Protein UniProtKB:P26196 biolink:Protein UniProtKB:Q9BPU6 biolink:Protein UniProtKB:Q6P2C8 biolink:Protein UniProtKB:Q96IR7 biolink:Protein UniProtKB:Q7LGA3 biolink:Protein UniProtKB:P48058 biolink:Protein UniProtKB:Q9UHV7 biolink:Protein UniProtKB:Q9UGU0 biolink:Protein UniProtKB:Q9NQB0 biolink:Protein UniProtKB:Q92833 biolink:Protein UniProtKB:Q7Z6Z7 biolink:Protein UniProtKB:Q9H3S7 biolink:Protein UniProtKB:Q9UPT6 biolink:Protein UniProtKB:Q12830 biolink:Protein UniProtKB:Q9HCD6 biolink:Protein UniProtKB:P63241 biolink:Protein UniProtKB:Q9BZQ6 biolink:Protein UniProtKB:Q32M78 biolink:Protein UniProtKB:P62805 biolink:Protein UniProtKB:Q9UL68 biolink:Protein UniProtKB:Q8IZD9 biolink:Protein UniProtKB:Q9NVW2 biolink:Protein UniProtKB:O96019 biolink:Protein UniProtKB:P51790 biolink:Protein UniProtKB:Q9UKV8 biolink:Protein UniProtKB:Q9H7Z6 biolink:Protein UniProtKB:Q12791 biolink:Protein UniProtKB:P42858 biolink:Protein UniProtKB:P20020 biolink:Protein UniProtKB:Q9UIW2 biolink:Protein UniProtKB:Q9UMN6 biolink:Protein UniProtKB:Q9Y5F7 biolink:Protein UniProtKB:Q9UKF6 biolink:Protein UniProtKB:O00232 biolink:Protein Orphanet:93262 biolink:Disease Crouzon syndrome-acanthosis nigricans syndrome UniProtKB:P22607 biolink:Protein Orphanet:93260 biolink:Disease Pfeiffer syndrome type 3 UniProtKB:P21802 biolink:Protein Orphanet:93259 biolink:Disease Pfeiffer syndrome type 2 UniProtKB:P21802 biolink:Protein Orphanet:93258 biolink:Disease Pfeiffer syndrome type 1 UniProtKB:P11362 biolink:Protein UniProtKB:P21802 biolink:Protein Orphanet:93271 biolink:Disease Short rib-polydactyly syndrome, Verma-Naumoff type UniProtKB:Q9P2H3 biolink:Protein UniProtKB:Q8NCM8 biolink:Protein UniProtKB:Q9P2L0 biolink:Protein UniProtKB:Q8WVS4 biolink:Protein UniProtKB:Q96EX3 biolink:Protein Orphanet:93269 biolink:Disease Short rib-polydactyly syndrome, Majewski type UniProtKB:Q8TDR0 biolink:Protein UniProtKB:Q8NCM8 biolink:Protein UniProtKB:Q96PY6 biolink:Protein Orphanet:93270 biolink:Disease Short rib-polydactyly syndrome, Saldino-Noonan type UniProtKB:Q8NCM8 biolink:Protein Orphanet:93268 biolink:Disease Short rib-polydactyly syndrome, Beemer-Langer type UniProtKB:Q9P2H3 biolink:Protein UniProtKB:Q9HBG6 biolink:Protein Orphanet:93282 biolink:Disease Spondyloepimetaphyseal dysplasia, PAPSS2 type UniProtKB:O95340 biolink:Protein Orphanet:93283 biolink:Disease Spondyloepiphyseal dysplasia, Kimberley type UniProtKB:P16112 biolink:Protein Orphanet:93279 biolink:Disease Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis UniProtKB:P02458 biolink:Protein Orphanet:93276 biolink:Disease Polyostotic fibrous dysplasia UniProtKB:P63092 biolink:Protein Orphanet:93277 biolink:Disease Monostotic fibrous dysplasia UniProtKB:P63092 biolink:Protein Orphanet:93274 biolink:Disease Thanatophoric dysplasia type 2 UniProtKB:P22607 biolink:Protein Orphanet:527497 biolink:Disease NKX6-2-related autosomal recessive hypomyelinating leukodystrophy UniProtKB:Q9C056 biolink:Protein Orphanet:93110 biolink:Disease Posterior urethral valve UniProtKB:Q6ZN30 biolink:Protein Orphanet:527450 biolink:Disease Severe myopia-generalized joint laxity-short stature syndrome UniProtKB:Q9H116 biolink:Protein Orphanet:93100 biolink:Disease Renal agenesis, unilateral UniProtKB:P07949 biolink:Protein UniProtKB:Q86XX4 biolink:Protein UniProtKB:P12644 biolink:Protein UniProtKB:Q5SZK8 biolink:Protein UniProtKB:Q5H8C1 biolink:Protein UniProtKB:O75631 biolink:Protein UniProtKB:Q6XUX3 biolink:Protein UniProtKB:Q9C091 biolink:Protein Orphanet:527468 biolink:Disease Diaphragmatic hernia-short bowel-asplenia syndrome UniProtKB:Q14774 biolink:Protein Orphanet:92050 biolink:Disease Congenital tufting enteropathy UniProtKB:P16422 biolink:Protein UniProtKB:A0A1W2PR82 biolink:Protein Orphanet:93160 biolink:Disease Hypocalcemic vitamin D-resistant rickets UniProtKB:P11473 biolink:Protein Orphanet:93114 biolink:Disease Autosomal dominant intermediate Charcot-Marie-Tooth disease type E UniProtKB:Q27J81 biolink:Protein Orphanet:93111 biolink:Disease HNF1B-related autosomal dominant tubulointerstitial kidney disease UniProtKB:P35680 biolink:Protein Orphanet:93172 biolink:Disease Renal dysplasia, unilateral UniProtKB:P35680 biolink:Protein Orphanet:93173 biolink:Disease Renal dysplasia, bilateral UniProtKB:P35680 biolink:Protein Orphanet:93322 biolink:Disease Tibial hemimelia UniProtKB:P10071 biolink:Protein Orphanet:93321 biolink:Disease Radial hemimelia UniProtKB:Q8WVP7 biolink:Protein UniProtKB:Q15465 biolink:Protein Orphanet:93325 biolink:Disease Autosomal dominant Kenny-Caffey syndrome UniProtKB:Q96PZ2 biolink:Protein Orphanet:93324 biolink:Disease Autosomal recessive Kenny-Caffey syndrome UniProtKB:Q15813 biolink:Protein Orphanet:93329 biolink:Disease Autosomal recessive omodysplasia UniProtKB:Q9Y625 biolink:Protein Orphanet:93328 biolink:Disease Autosomal dominant omodysplasia UniProtKB:Q14332 biolink:Protein Orphanet:93336 biolink:Disease Polydactyly of a triphalangeal thumb UniProtKB:Q15465 biolink:Protein UniProtKB:Q8WVP7 biolink:Protein Orphanet:93335 biolink:Disease Postaxial polydactyly type B UniProtKB:P08151 biolink:Protein UniProtKB:P10071 biolink:Protein Orphanet:93334 biolink:Disease Postaxial polydactyly type A UniProtKB:P08151 biolink:Protein UniProtKB:Q8IV33 biolink:Protein UniProtKB:Q15928 biolink:Protein UniProtKB:Q6IPM2 biolink:Protein UniProtKB:P10071 biolink:Protein UniProtKB:A1XBS5 biolink:Protein Orphanet:93333 biolink:Disease Pelviscapular dysplasia UniProtKB:Q96SF7 biolink:Protein Orphanet:93339 biolink:Disease Polydactyly of a biphalangeal thumb UniProtKB:P08151 biolink:Protein Orphanet:93338 biolink:Disease Polysyndactyly UniProtKB:P10071 biolink:Protein Orphanet:93349 biolink:Disease X-linked spondyloepimetaphyseal dysplasia UniProtKB:P21810 biolink:Protein Orphanet:93346 biolink:Disease Spondyloepimetaphyseal dysplasia congenita, Strudwick type UniProtKB:P02458 biolink:Protein Orphanet:93347 biolink:Disease Anauxetic dysplasia UniProtKB:Q99575 biolink:Protein UniProtKB:Q6NW34 biolink:Protein Orphanet:93356 biolink:Disease Spondyloepimetaphyseal dysplasia, Missouri type UniProtKB:P45452 biolink:Protein Orphanet:93352 biolink:Disease Spondyloepimetaphyseal dysplasia, Shohat type UniProtKB:Q96HY6 biolink:Protein Orphanet:93284 biolink:Disease Spondyloepiphyseal dysplasia tarda UniProtKB:P0DI81 biolink:Protein Orphanet:93296 biolink:Disease Achondrogenesis type 2 UniProtKB:P02458 biolink:Protein Orphanet:93298 biolink:Disease Achondrogenesis type 1B UniProtKB:P50443 biolink:Protein Orphanet:93297 biolink:Disease Hypochondrogenesis UniProtKB:P02458 biolink:Protein Orphanet:93299 biolink:Disease Achondrogenesis type 1A UniProtKB:Q15643 biolink:Protein Orphanet:93304 biolink:Disease Autosomal dominant brachyolmia UniProtKB:Q9HBA0 biolink:Protein Orphanet:93307 biolink:Disease Multiple epiphyseal dysplasia type 4 UniProtKB:P50443 biolink:Protein Orphanet:93308 biolink:Disease Multiple epiphyseal dysplasia type 1 UniProtKB:P49747 biolink:Protein Orphanet:93311 biolink:Disease Multiple epiphyseal dysplasia type 5 UniProtKB:O15232 biolink:Protein Orphanet:93314 biolink:Disease Spondylometaphyseal dysplasia, Kozlowski type UniProtKB:Q9HBA0 biolink:Protein Orphanet:93315 biolink:Disease Spondylometaphyseal dysplasia, 'corner fracture' type UniProtKB:P02458 biolink:Protein UniProtKB:P02751 biolink:Protein Orphanet:93316 biolink:Disease Spondylometaphyseal dysplasia, Schmidt type UniProtKB:P02458 biolink:Protein Orphanet:93317 biolink:Disease Spondylometaphyseal dysplasia, Sedaghatian type UniProtKB:P36969 biolink:Protein Orphanet:529962 biolink:Disease 17q24.2 microdeletion syndrome UniProtKB:Q12830 biolink:Protein UniProtKB:O00232 biolink:Protein Orphanet:90673 biolink:Disease Hypothyroidism due to TSH receptor mutations UniProtKB:P16473 biolink:Protein Orphanet:90674 biolink:Disease Isolated thyroid-stimulating hormone deficiency UniProtKB:P01222 biolink:Protein Orphanet:529831 biolink:Disease Letrozole toxicity UniProtKB:P11509 biolink:Protein Orphanet:529819 biolink:Disease NON RARE IN EUROPE: Exfoliation syndrome UniProtKB:Q08397 biolink:Protein Orphanet:90658 biolink:Disease Charcot-Marie-Tooth disease type 1E UniProtKB:Q01453 biolink:Protein Orphanet:90791 biolink:Disease Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency UniProtKB:P26439 biolink:Protein Orphanet:529980 biolink:Disease Inflammatory bowel disease-recurrent sinopulmonary infections syndrome UniProtKB:O94916 biolink:Protein Orphanet:529977 biolink:Disease Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome UniProtKB:Q13546 biolink:Protein Orphanet:90695 biolink:Disease Non-acquired panhypopituitarism UniProtKB:P41225 biolink:Protein UniProtKB:O75360 biolink:Protein Orphanet:529965 biolink:Disease Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome UniProtKB:O14646 biolink:Protein Orphanet:529970 biolink:Disease Male infertility due to acephalic spermatozoa UniProtKB:Q8TBY8 biolink:Protein UniProtKB:Q8TC36 biolink:Protein Orphanet:90625 biolink:Disease X-linked non-syndromic sensorineural deafness type DFN UniProtKB:P60891 biolink:Protein UniProtKB:Q14031 biolink:Protein UniProtKB:Q9UHP9 biolink:Protein Orphanet:90635 biolink:Disease Autosomal dominant non-syndromic sensorineural deafness type DFNA UniProtKB:P21583 biolink:Protein UniProtKB:Q86UV5 biolink:Protein UniProtKB:Q04837 biolink:Protein UniProtKB:Q9Y4A5 biolink:Protein UniProtKB:Q14123 biolink:Protein UniProtKB:Q53GD3 biolink:Protein UniProtKB:Q15319 biolink:Protein UniProtKB:Q15475 biolink:Protein UniProtKB:O75443 biolink:Protein UniProtKB:Q8TDI8 biolink:Protein UniProtKB:O76024 biolink:Protein UniProtKB:O43405 biolink:Protein UniProtKB:P13942 biolink:Protein UniProtKB:O60443 biolink:Protein UniProtKB:O95677 biolink:Protein UniProtKB:P29033 biolink:Protein UniProtKB:O75712 biolink:Protein UniProtKB:O95452 biolink:Protein UniProtKB:P56696 biolink:Protein UniProtKB:Q7Z406 biolink:Protein UniProtKB:P35579 biolink:Protein UniProtKB:Q9UM54 biolink:Protein UniProtKB:Q13402 biolink:Protein UniProtKB:Q8IVM0 biolink:Protein UniProtKB:Q6ISB3 biolink:Protein UniProtKB:Q14894 biolink:Protein UniProtKB:P63261 biolink:Protein UniProtKB:Q8NDX2 biolink:Protein UniProtKB:Q9ULP9 biolink:Protein UniProtKB:Q9UDY2 biolink:Protein UniProtKB:Q2WEN9 biolink:Protein UniProtKB:Q9NSV4 biolink:Protein UniProtKB:Q9NR28 biolink:Protein UniProtKB:Q9UBL9 biolink:Protein UniProtKB:P24821 biolink:Protein UniProtKB:O00159 biolink:Protein UniProtKB:Q9H1P3 biolink:Protein UniProtKB:Q9NSB8 biolink:Protein UniProtKB:P49736 biolink:Protein UniProtKB:Q04900 biolink:Protein UniProtKB:P33527 biolink:Protein UniProtKB:Q9UMZ3 biolink:Protein UniProtKB:Q14651 biolink:Protein UniProtKB:Q8TDJ6 biolink:Protein UniProtKB:Q9UBC5 biolink:Protein Orphanet:90636 biolink:Disease Autosomal recessive non-syndromic sensorineural deafness type DFNB UniProtKB:O43314 biolink:Protein UniProtKB:Q6IEE7 biolink:Protein UniProtKB:Q13588 biolink:Protein UniProtKB:A6H8Y1 biolink:Protein UniProtKB:Q2WEN9 biolink:Protein UniProtKB:Q96I59 biolink:Protein UniProtKB:Q01973 biolink:Protein UniProtKB:Q969T9 biolink:Protein UniProtKB:Q9H6S3 biolink:Protein UniProtKB:O43511 biolink:Protein UniProtKB:Q8WZ55 biolink:Protein UniProtKB:Q9H251 biolink:Protein UniProtKB:O75443 biolink:Protein UniProtKB:Q8TDI8 biolink:Protein UniProtKB:Q8NEW7 biolink:Protein UniProtKB:P57727 biolink:Protein UniProtKB:Q9Y6N9 biolink:Protein UniProtKB:P13942 biolink:Protein UniProtKB:Q96FG2 biolink:Protein UniProtKB:P29033 biolink:Protein UniProtKB:O75712 biolink:Protein UniProtKB:O95452 biolink:Protein UniProtKB:P08581 biolink:Protein UniProtKB:Q9UKN7 biolink:Protein UniProtKB:Q9UM54 biolink:Protein UniProtKB:Q13402 biolink:Protein UniProtKB:Q9HC10 biolink:Protein UniProtKB:Q96QU1 biolink:Protein UniProtKB:Q9P202 biolink:Protein UniProtKB:Q7RTU9 biolink:Protein UniProtKB:Q9H2D6 biolink:Protein UniProtKB:P35241 biolink:Protein UniProtKB:Q8TAF8 biolink:Protein UniProtKB:B1AK53 biolink:Protein UniProtKB:O95718 biolink:Protein UniProtKB:Q8N4S9 biolink:Protein UniProtKB:Q8NEV4 biolink:Protein UniProtKB:P58743 biolink:Protein UniProtKB:Q7RTW8 biolink:Protein UniProtKB:Q0ZLH3 biolink:Protein UniProtKB:O95500 biolink:Protein UniProtKB:Q8WZ04 biolink:Protein UniProtKB:P14210 biolink:Protein UniProtKB:Q8IVV2 biolink:Protein UniProtKB:A8MXD5 biolink:Protein UniProtKB:Q4KMQ1 biolink:Protein UniProtKB:Q9UMZ3 biolink:Protein UniProtKB:P35237 biolink:Protein UniProtKB:Q9ULP9 biolink:Protein UniProtKB:P81274 biolink:Protein UniProtKB:Q8IXL7 biolink:Protein UniProtKB:Q86SU0 biolink:Protein UniProtKB:Q15046 biolink:Protein UniProtKB:Q8TF64 biolink:Protein UniProtKB:Q8WU66 biolink:Protein UniProtKB:O75838 biolink:Protein UniProtKB:Q9NPB3 biolink:Protein UniProtKB:Q6ZRI0 biolink:Protein UniProtKB:Q8TCS8 biolink:Protein UniProtKB:Q3ZCN5 biolink:Protein UniProtKB:Q8N205 biolink:Protein UniProtKB:Q9H5Y7 biolink:Protein UniProtKB:A6NFK2 biolink:Protein UniProtKB:Q12929 biolink:Protein UniProtKB:Q08828 biolink:Protein UniProtKB:Q9NZA1 biolink:Protein UniProtKB:Q9Y4F9 biolink:Protein UniProtKB:Q9UHG0 biolink:Protein UniProtKB:Q01814 biolink:Protein UniProtKB:O95136 biolink:Protein UniProtKB:O60487 biolink:Protein UniProtKB:Q9UNH5 biolink:Protein UniProtKB:P17302 biolink:Protein Orphanet:529574 biolink:Disease Duane retraction syndrome with congenital deafness UniProtKB:Q9Y5Q3 biolink:Protein Orphanet:90368 biolink:Disease Hypotrichosis simplex of the scalp UniProtKB:Q7RTS7 biolink:Protein UniProtKB:Q15517 biolink:Protein Orphanet:90389 biolink:Disease Telangiectasia macularis eruptiva perstans UniProtKB:P10721 biolink:Protein Orphanet:90653 biolink:Disease Stickler syndrome type 1 UniProtKB:P02458 biolink:Protein Orphanet:90652 biolink:Disease Otopalatodigital syndrome type 2 UniProtKB:P21333 biolink:Protein Orphanet:90654 biolink:Disease Stickler syndrome type 2 UniProtKB:P12107 biolink:Protein Orphanet:529665 biolink:Disease Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome UniProtKB:O43292 biolink:Protein Orphanet:90647 biolink:Disease Jervell and Lange-Nielsen syndrome UniProtKB:P15382 biolink:Protein UniProtKB:P51787 biolink:Protein Orphanet:90650 biolink:Disease Otopalatodigital syndrome type 1 UniProtKB:P21333 biolink:Protein Orphanet:90641 biolink:Disease Mitochondrial non-syndromic sensorineural deafness UniProtKB:P49335 biolink:Protein UniProtKB:P03905 biolink:Protein UniProtKB:Q8WVM0 biolink:Protein UniProtKB:O75648 biolink:Protein UniProtKB:P00395 biolink:Protein UniProtKB:A0A0C5B5G6 biolink:Protein Orphanet:91387 biolink:Disease Familial thoracic aortic aneurysm and aortic dissection UniProtKB:Q13461 biolink:Protein UniProtKB:Q15796 biolink:Protein UniProtKB:P28300 biolink:Protein UniProtKB:P31153 biolink:Protein UniProtKB:P15502 biolink:Protein UniProtKB:Q9UBP5 biolink:Protein UniProtKB:P10600 biolink:Protein UniProtKB:P36897 biolink:Protein UniProtKB:P37173 biolink:Protein UniProtKB:P35555 biolink:Protein UniProtKB:P62736 biolink:Protein UniProtKB:Q15746 biolink:Protein UniProtKB:P84022 biolink:Protein UniProtKB:Q13976 biolink:Protein UniProtKB:Q13361 biolink:Protein UniProtKB:P61812 biolink:Protein UniProtKB:Q13485 biolink:Protein UniProtKB:P35749 biolink:Protein Orphanet:91411 biolink:Disease Congenital ptosis UniProtKB:Q9BXS0 biolink:Protein UniProtKB:Q86UP3 biolink:Protein Orphanet:91496 biolink:Disease Snowflake vitreoretinal degeneration UniProtKB:O60928 biolink:Protein Orphanet:91495 biolink:Disease Persistent hyperplastic primary vitreous UniProtKB:Q9ULV1 biolink:Protein UniProtKB:Q00604 biolink:Protein UniProtKB:Q8N100 biolink:Protein Orphanet:91481 biolink:Disease Ring dermoid of cornea UniProtKB:Q99697 biolink:Protein Orphanet:91414 biolink:Disease Pilomatrixoma UniProtKB:P35222 biolink:Protein Orphanet:91490 biolink:Disease Isolated congenital sclerocornea UniProtKB:P48165 biolink:Protein Orphanet:91489 biolink:Disease Isolated congenital megalocornea UniProtKB:Q9BU40 biolink:Protein Orphanet:91483 biolink:Disease Rieger anomaly UniProtKB:Q99697 biolink:Protein UniProtKB:Q12948 biolink:Protein Orphanet:91130 biolink:Disease Cardiomyopathy-hypotonia-lactic acidosis syndrome UniProtKB:Q00325 biolink:Protein Orphanet:91131 biolink:Disease DK1-CDG UniProtKB:Q9UPQ8 biolink:Protein Orphanet:91132 biolink:Disease Ichthyosis-hypotrichosis syndrome UniProtKB:Q9Y5Y6 biolink:Protein Orphanet:90793 biolink:Disease Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency UniProtKB:P05093 biolink:Protein Orphanet:90795 biolink:Disease Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency UniProtKB:P15538 biolink:Protein Orphanet:90796 biolink:Disease 46,XY disorder of sex development due to isolated 17,20-lyase deficiency UniProtKB:P00167 biolink:Protein UniProtKB:P05093 biolink:Protein Orphanet:90797 biolink:Disease Partial androgen insensitivity syndrome UniProtKB:P10275 biolink:Protein Orphanet:91347 biolink:Disease TSH-secreting pituitary adenoma UniProtKB:Q9H251 biolink:Protein Orphanet:91352 biolink:Disease Germinoma of the central nervous system UniProtKB:Q15652 biolink:Protein Orphanet:91135 biolink:Disease Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency UniProtKB:P38435 biolink:Protein Orphanet:79396 biolink:Disease Autosomal dominant generalized epidermolysis bullosa simplex, severe form UniProtKB:P02533 biolink:Protein UniProtKB:P13647 biolink:Protein Orphanet:79397 biolink:Disease Epidermolysis bullosa simplex with mottled pigmentation UniProtKB:P02533 biolink:Protein UniProtKB:P13647 biolink:Protein Orphanet:79394 biolink:Disease Congenital non-bullous ichthyosiform erythroderma UniProtKB:Q86UK0 biolink:Protein UniProtKB:O75342 biolink:Protein UniProtKB:Q9BYJ1 biolink:Protein UniProtKB:P22735 biolink:Protein UniProtKB:Q0D2K0 biolink:Protein UniProtKB:Q8N8W4 biolink:Protein UniProtKB:Q8IU89 biolink:Protein Orphanet:79395 biolink:Disease Keratoderma hereditarium mutilans with ichthyosis UniProtKB:P23490 biolink:Protein Orphanet:79414 biolink:Disease Woolly hair nevus UniProtKB:P01112 biolink:Protein Orphanet:79399 biolink:Disease Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form UniProtKB:P02533 biolink:Protein UniProtKB:P13647 biolink:Protein Orphanet:79401 biolink:Disease PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement UniProtKB:Q15149 biolink:Protein Orphanet:79400 biolink:Disease Localized epidermolysis bullosa simplex UniProtKB:P02533 biolink:Protein UniProtKB:P13647 biolink:Protein Orphanet:79403 biolink:Disease Junctional epidermolysis bullosa with pyloric atresia UniProtKB:P23229 biolink:Protein UniProtKB:P16144 biolink:Protein Orphanet:79402 biolink:Disease Intermediate generalized junctional epidermolysis bullosa UniProtKB:Q9UMD9 biolink:Protein UniProtKB:P16144 biolink:Protein UniProtKB:Q16787 biolink:Protein UniProtKB:Q13751 biolink:Protein UniProtKB:Q13753 biolink:Protein Orphanet:79404 biolink:Disease Severe generalized junctional epidermolysis bullosa UniProtKB:Q13751 biolink:Protein UniProtKB:Q13753 biolink:Protein UniProtKB:Q16787 biolink:Protein Orphanet:79406 biolink:Disease Late-onset junctional epidermolysis bullosa UniProtKB:Q9UMD9 biolink:Protein Orphanet:79409 biolink:Disease Recessive dystrophic epidermolysis bullosa inversa UniProtKB:Q02388 biolink:Protein Orphanet:79408 biolink:Disease Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form UniProtKB:Q02388 biolink:Protein UniProtKB:P03956 biolink:Protein Orphanet:79411 biolink:Disease Self-improving dystrophic epidermolysis bullosa UniProtKB:Q02388 biolink:Protein Orphanet:79410 biolink:Disease Localized dystrophic epidermolysis bullosa, pretibial form UniProtKB:Q02388 biolink:Protein Orphanet:79452 biolink:Disease Milroy disease UniProtKB:P35916 biolink:Protein UniProtKB:Q5T442 biolink:Protein Orphanet:79455 biolink:Disease Cutaneous mastocytoma UniProtKB:P10721 biolink:Protein Orphanet:79435 biolink:Disease Oculocutaneous albinism type 4 UniProtKB:Q9UMX9 biolink:Protein Orphanet:79434 biolink:Disease Oculocutaneous albinism type 1B UniProtKB:P14679 biolink:Protein Orphanet:79433 biolink:Disease Oculocutaneous albinism type 3 UniProtKB:P17643 biolink:Protein Orphanet:79432 biolink:Disease Oculocutaneous albinism type 2 UniProtKB:Q04671 biolink:Protein UniProtKB:Q01726 biolink:Protein Orphanet:79431 biolink:Disease Oculocutaneous albinism type 1A UniProtKB:P14679 biolink:Protein Orphanet:79445 biolink:Disease Pseudopseudohypoparathyroidism UniProtKB:P63092 biolink:Protein Orphanet:79444 biolink:Disease Pseudohypoparathyroidism type 1C UniProtKB:P63092 biolink:Protein Orphanet:79443 biolink:Disease Pseudohypoparathyroidism type 1A UniProtKB:P63092 biolink:Protein Orphanet:79483 biolink:Disease Phakomatosis cesioflammea UniProtKB:P50148 biolink:Protein UniProtKB:P29992 biolink:Protein Orphanet:79484 biolink:Disease Phakomatosis cesiomarmorata UniProtKB:P29992 biolink:Protein Orphanet:79478 biolink:Disease Griscelli syndrome type 3 UniProtKB:Q9BV36 biolink:Protein UniProtKB:Q9Y4I1 biolink:Protein Orphanet:79474 biolink:Disease Atypical Werner syndrome UniProtKB:P02545 biolink:Protein Orphanet:79477 biolink:Disease Griscelli syndrome type 2 UniProtKB:P51159 biolink:Protein Orphanet:79476 biolink:Disease Griscelli syndrome type 1 UniProtKB:Q9Y4I1 biolink:Protein Orphanet:79473 biolink:Disease Porphyria variegata UniProtKB:P50336 biolink:Protein Orphanet:79269 biolink:Disease Sanfilippo syndrome type A UniProtKB:P51688 biolink:Protein Orphanet:79257 biolink:Disease GM1 gangliosidosis type 3 UniProtKB:P16278 biolink:Protein Orphanet:79256 biolink:Disease GM1 gangliosidosis type 2 UniProtKB:P16278 biolink:Protein Orphanet:79255 biolink:Disease GM1 gangliosidosis type 1 UniProtKB:P16278 biolink:Protein Orphanet:79254 biolink:Disease Classic phenylketonuria UniProtKB:P00439 biolink:Protein Orphanet:79259 biolink:Disease Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib UniProtKB:O43826 biolink:Protein Orphanet:79258 biolink:Disease Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia UniProtKB:P35575 biolink:Protein Orphanet:79246 biolink:Disease Pyruvate dehydrogenase phosphatase deficiency UniProtKB:Q9P0J1 biolink:Protein Orphanet:79253 biolink:Disease Mild phenylketonuria UniProtKB:P00439 biolink:Protein Orphanet:79240 biolink:Disease Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency UniProtKB:Q93100 biolink:Protein Orphanet:79241 biolink:Disease Biotinidase deficiency UniProtKB:P43251 biolink:Protein Orphanet:79239 biolink:Disease Classic galactosemia UniProtKB:P07902 biolink:Protein Orphanet:79244 biolink:Disease Pyruvate dehydrogenase E2 deficiency UniProtKB:P10515 biolink:Protein Orphanet:79242 biolink:Disease Holocarboxylase synthetase deficiency UniProtKB:P50747 biolink:Protein Orphanet:79243 biolink:Disease Pyruvate dehydrogenase E1-alpha deficiency UniProtKB:P08559 biolink:Protein UniProtKB:P36776 biolink:Protein Orphanet:79299 biolink:Disease Hyperinsulinism due to glucokinase deficiency UniProtKB:P35557 biolink:Protein Orphanet:79301 biolink:Disease Congenital bile acid synthesis defect type 1 UniProtKB:Q9H2F3 biolink:Protein Orphanet:79293 biolink:Disease Familial LCAT deficiency UniProtKB:P04180 biolink:Protein Orphanet:79292 biolink:Disease Fish-eye disease UniProtKB:P04180 biolink:Protein Orphanet:79278 biolink:Disease Autosomal erythropoietic protoporphyria UniProtKB:P22830 biolink:Protein Orphanet:79279 biolink:Disease Alpha-N-acetylgalactosaminidase deficiency type 1 UniProtKB:P17050 biolink:Protein Orphanet:79280 biolink:Disease Alpha-N-acetylgalactosaminidase deficiency type 2 UniProtKB:P17050 biolink:Protein Orphanet:79281 biolink:Disease Alpha-N-acetylgalactosaminidase deficiency type 3 UniProtKB:P17050 biolink:Protein Orphanet:79282 biolink:Disease Methylmalonic acidemia with homocystinuria, type cblC UniProtKB:Q9Y4U1 biolink:Protein Orphanet:79283 biolink:Disease Methylmalonic acidemia with homocystinuria, type cblD UniProtKB:Q9H3L0 biolink:Protein Orphanet:79284 biolink:Disease Methylmalonic acidemia with homocystinuria type cblF UniProtKB:Q9NUN5 biolink:Protein Orphanet:79270 biolink:Disease Sanfilippo syndrome type B UniProtKB:P54802 biolink:Protein Orphanet:79271 biolink:Disease Sanfilippo syndrome type C UniProtKB:Q68CP4 biolink:Protein Orphanet:79272 biolink:Disease Sanfilippo syndrome type D UniProtKB:P15586 biolink:Protein Orphanet:79273 biolink:Disease Hereditary coproporphyria UniProtKB:P36551 biolink:Protein Orphanet:79276 biolink:Disease Acute intermittent porphyria UniProtKB:P08397 biolink:Protein Orphanet:79277 biolink:Disease Congenital erythropoietic porphyria UniProtKB:P10746 biolink:Protein UniProtKB:P15976 biolink:Protein Orphanet:79333 biolink:Disease COG7-CDG UniProtKB:P83436 biolink:Protein Orphanet:79332 biolink:Disease B4GALT1-CDG UniProtKB:P15291 biolink:Protein Orphanet:79330 biolink:Disease MOGS-CDG UniProtKB:Q13724 biolink:Protein Orphanet:79329 biolink:Disease MGAT2-CDG UniProtKB:Q10469 biolink:Protein Orphanet:79328 biolink:Disease ALG9-CDG UniProtKB:Q9H6U8 biolink:Protein Orphanet:79327 biolink:Disease ALG1-CDG UniProtKB:Q9BT22 biolink:Protein Orphanet:79326 biolink:Disease ALG2-CDG UniProtKB:Q9H553 biolink:Protein Orphanet:79325 biolink:Disease ALG8-CDG UniProtKB:Q9BVK2 biolink:Protein Orphanet:79324 biolink:Disease ALG12-CDG UniProtKB:Q9BV10 biolink:Protein Orphanet:79323 biolink:Disease MPDU1-CDG UniProtKB:O75352 biolink:Protein Orphanet:79322 biolink:Disease DPM1-CDG UniProtKB:O60762 biolink:Protein Orphanet:79321 biolink:Disease ALG3-CDG UniProtKB:Q92685 biolink:Protein Orphanet:79320 biolink:Disease ALG6-CDG UniProtKB:Q9Y672 biolink:Protein Orphanet:79319 biolink:Disease MPI-CDG UniProtKB:P34949 biolink:Protein Orphanet:79318 biolink:Disease PMM2-CDG UniProtKB:O15305 biolink:Protein Orphanet:79314 biolink:Disease L-2-hydroxyglutaric aciduria UniProtKB:Q9H9P8 biolink:Protein Orphanet:79315 biolink:Disease D-2-hydroxyglutaric aciduria UniProtKB:Q8N465 biolink:Protein UniProtKB:P48735 biolink:Protein Orphanet:79312 biolink:Disease Vitamin B12-unresponsive methylmalonic acidemia type mut- UniProtKB:P22033 biolink:Protein Orphanet:79310 biolink:Disease Vitamin B12-responsive methylmalonic acidemia type cblA UniProtKB:Q8IVH4 biolink:Protein Orphanet:79311 biolink:Disease Vitamin B12-responsive methylmalonic acidemia type cblB UniProtKB:Q96EY8 biolink:Protein Orphanet:79306 biolink:Disease Progressive familial intrahepatic cholestasis type 1 UniProtKB:Q9ULV0 biolink:Protein UniProtKB:O43520 biolink:Protein Orphanet:79304 biolink:Disease Progressive familial intrahepatic cholestasis type 2 UniProtKB:O95342 biolink:Protein Orphanet:79305 biolink:Disease Progressive familial intrahepatic cholestasis type 3 UniProtKB:P21439 biolink:Protein Orphanet:79302 biolink:Disease Congenital bile acid synthesis defect type 3 UniProtKB:O75881 biolink:Protein Orphanet:79303 biolink:Disease Congenital bile acid synthesis defect type 2 UniProtKB:P51857 biolink:Protein Orphanet:79351 biolink:Disease 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form UniProtKB:O43175 biolink:Protein Orphanet:79350 biolink:Disease 3-phosphoserine phosphatase deficiency, infantile/juvenile form UniProtKB:P78330 biolink:Protein Orphanet:79345 biolink:Disease Brachytelephalangic chondrodysplasia punctata UniProtKB:P51690 biolink:Protein Orphanet:85191 biolink:Disease Singleton-Merten dysplasia UniProtKB:Q9BYX4 biolink:Protein UniProtKB:O95786 biolink:Protein Orphanet:85193 biolink:Disease Idiopathic juvenile osteoporosis UniProtKB:P56704 biolink:Protein UniProtKB:O94907 biolink:Protein UniProtKB:P04628 biolink:Protein Orphanet:85195 biolink:Disease Familial expansile osteolysis UniProtKB:Q9Y6Q6 biolink:Protein Orphanet:85194 biolink:Disease Spondylo-ocular syndrome UniProtKB:Q9H1B5 biolink:Protein Orphanet:85198 biolink:Disease Dysspondyloenchondromatosis UniProtKB:P02458 biolink:Protein Orphanet:85201 biolink:Disease Genitopatellar syndrome UniProtKB:Q8WYB5 biolink:Protein Orphanet:85200 biolink:Disease Ischiovertebral syndrome UniProtKB:Q8N8U9 biolink:Protein Orphanet:85202 biolink:Disease Keutel syndrome UniProtKB:P08493 biolink:Protein Orphanet:85212 biolink:Disease Fetal Gaucher disease UniProtKB:P04062 biolink:Protein Orphanet:85277 biolink:Disease X-linked intellectual disability, Cantagrel type UniProtKB:Q5QGS0 biolink:Protein Orphanet:85278 biolink:Disease Christianson syndrome UniProtKB:Q92581 biolink:Protein Orphanet:85279 biolink:Disease KDM5C-related syndromic X-linked intellectual disability UniProtKB:P41229 biolink:Protein Orphanet:85282 biolink:Disease MEHMO syndrome UniProtKB:P41091 biolink:Protein Orphanet:85284 biolink:Disease BRESEK syndrome UniProtKB:O43462 biolink:Protein Orphanet:85287 biolink:Disease X-linked intellectual disability, Siderius type UniProtKB:Q9UPP1 biolink:Protein Orphanet:85288 biolink:Disease X-linked intellectual disability, Stocco Dos Santos type UniProtKB:Q9ULL8 biolink:Protein Orphanet:85293 biolink:Disease X-linked intellectual disability, Cabezas type UniProtKB:Q13620 biolink:Protein Orphanet:85295 biolink:Disease HSD10 disease, atypical type UniProtKB:Q99714 biolink:Protein Orphanet:85294 biolink:Disease X-linked epilepsy-learning disabilities-behavior disorders syndrome UniProtKB:P17600 biolink:Protein Orphanet:85329 biolink:Disease X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome UniProtKB:P56377 biolink:Protein Orphanet:85335 biolink:Disease Fried syndrome UniProtKB:P56377 biolink:Protein Orphanet:85410 biolink:Disease Oligoarticular juvenile idiopathic arthritis UniProtKB:Q9Y2R2 biolink:Protein UniProtKB:Q14765 biolink:Protein UniProtKB:P01589 biolink:Protein UniProtKB:P20963 biolink:Protein UniProtKB:P17706 biolink:Protein UniProtKB:Q3KP44 biolink:Protein UniProtKB:P14784 biolink:Protein Orphanet:85414 biolink:Disease Systemic-onset juvenile idiopathic arthritis UniProtKB:P01911 biolink:Protein UniProtKB:P14174 biolink:Protein UniProtKB:P05231 biolink:Protein UniProtKB:Q8IV20 biolink:Protein Orphanet:85408 biolink:Disease Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis UniProtKB:Q9Y2R2 biolink:Protein UniProtKB:Q14765 biolink:Protein UniProtKB:P01589 biolink:Protein UniProtKB:P20963 biolink:Protein UniProtKB:P17706 biolink:Protein UniProtKB:Q3KP44 biolink:Protein UniProtKB:P14784 biolink:Protein Orphanet:85442 biolink:Disease Short stature-pituitary and cerebellar defects-small sella turcica syndrome UniProtKB:Q969G2 biolink:Protein Orphanet:85445 biolink:Disease AA amyloidosis UniProtKB:P0DJI8 biolink:Protein Orphanet:85453 biolink:Disease X-linked reticulate pigmentary disorder UniProtKB:P09884 biolink:Protein Orphanet:86788 biolink:Disease X-linked severe congenital neutropenia UniProtKB:P42768 biolink:Protein Orphanet:86309 biolink:Disease DPAGT1-CDG UniProtKB:Q9H3H5 biolink:Protein Orphanet:85448 biolink:Disease AGel amyloidosis UniProtKB:P06396 biolink:Protein Orphanet:85447 biolink:Disease ATTRV30M amyloidosis UniProtKB:P02766 biolink:Protein Orphanet:85451 biolink:Disease ATTRV122I amyloidosis UniProtKB:P02766 biolink:Protein Orphanet:86812 biolink:Disease POMT1-related limb-girdle muscular dystrophy R11 UniProtKB:Q9Y6A1 biolink:Protein Orphanet:86813 biolink:Disease Helicoid peripapillary chorioretinal degeneration UniProtKB:P28347 biolink:Protein Orphanet:86814 biolink:Disease Benign adult familial myoclonic epilepsy UniProtKB:Q8N8I0 biolink:Protein UniProtKB:Q9ULM3 biolink:Protein UniProtKB:Q9UQB3 biolink:Protein UniProtKB:Q02246 biolink:Protein UniProtKB:P18089 biolink:Protein UniProtKB:O60337 biolink:Protein Orphanet:86815 biolink:Disease Aplasia of lacrimal and salivary glands UniProtKB:O15520 biolink:Protein Orphanet:86820 biolink:Disease Familial avascular necrosis of femoral head UniProtKB:Q9HBA0 biolink:Protein UniProtKB:P02458 biolink:Protein Orphanet:86816 biolink:Disease Congenital analbuminemia UniProtKB:P02768 biolink:Protein Orphanet:512017 biolink:Disease Chronic lymphoproliferative disorder of natural killer cells UniProtKB:P40763 biolink:Protein Orphanet:86817 biolink:Disease Hemolytic anemia due to adenylate kinase deficiency UniProtKB:P00568 biolink:Protein Orphanet:86818 biolink:Disease Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome UniProtKB:Q9UJ90 biolink:Protein UniProtKB:Q9Y4X0 biolink:Protein UniProtKB:O60488 biolink:Protein UniProtKB:Q9Y4X0 biolink:Protein Orphanet:86819 biolink:Disease Atrichia with papular lesions UniProtKB:O43593 biolink:Protein Orphanet:86841 biolink:Disease Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality UniProtKB:P62263 biolink:Protein Orphanet:512103 biolink:Disease Autosomal recessive epidermolytic ichthyosis UniProtKB:P13645 biolink:Protein Orphanet:86834 biolink:Disease Juvenile myelomonocytic leukemia UniProtKB:P10301 biolink:Protein UniProtKB:Q06124 biolink:Protein UniProtKB:P01116 biolink:Protein UniProtKB:P21359 biolink:Protein UniProtKB:P01111 biolink:Protein UniProtKB:P22681 biolink:Protein Orphanet:86830 biolink:Disease Chronic myeloproliferative disease, unclassifiable UniProtKB:P09619 biolink:Protein Orphanet:86829 biolink:Disease Chronic neutrophilic leukemia UniProtKB:Q99062 biolink:Protein Orphanet:512260 biolink:Disease Congenital cerebellar ataxia due to RNU12 mutation Orphanet:86849 biolink:Disease Acute basophilic leukemia UniProtKB:P10242 biolink:Protein UniProtKB:P15976 biolink:Protein Orphanet:86845 biolink:Disease Acute myeloid leukaemia with myelodysplasia-related features UniProtKB:Q6N021 biolink:Protein Orphanet:86872 biolink:Disease T-cell large granular lymphocyte leukemia UniProtKB:P40763 biolink:Protein Orphanet:86884 biolink:Disease Subcutaneous panniculitis-like T-cell lymphoma UniProtKB:Q8TDQ0 biolink:Protein Orphanet:79503 biolink:Disease Ichthyosis hystrix of Curth-Macklin UniProtKB:P04264 biolink:Protein Orphanet:79506 biolink:Disease Cholesterol-ester transfer protein deficiency UniProtKB:P02656 biolink:Protein UniProtKB:P11597 biolink:Protein Orphanet:79495 biolink:Disease X-linked congenital generalized hypertrichosis UniProtKB:P41225 biolink:Protein Orphanet:79499 biolink:Disease Autosomal dominant deafness-onychodystrophy syndrome UniProtKB:P21281 biolink:Protein Orphanet:79500 biolink:Disease DOORS syndrome UniProtKB:P21281 biolink:Protein UniProtKB:Q9ULP9 biolink:Protein Orphanet:79501 biolink:Disease Punctate palmoplantar keratoderma type 1 UniProtKB:Q05707 biolink:Protein UniProtKB:Q6PD74 biolink:Protein Orphanet:79665 biolink:Disease Gardner syndrome UniProtKB:P25054 biolink:Protein Orphanet:79643 biolink:Disease Autosomal recessive hyperinsulinism due to SUR1 deficiency UniProtKB:Q09428 biolink:Protein Orphanet:79651 biolink:Disease Mild hyperphenylalaninemia UniProtKB:P00439 biolink:Protein Orphanet:79644 biolink:Disease Autosomal recessive hyperinsulinism due to Kir6.2 deficiency UniProtKB:Q14654 biolink:Protein Orphanet:83330 biolink:Disease Proximal spinal muscular atrophy type 1 UniProtKB:Q16637 biolink:Protein UniProtKB:Q13075 biolink:Protein UniProtKB:Q16637 biolink:Protein Orphanet:83419 biolink:Disease Proximal spinal muscular atrophy type 3 UniProtKB:Q16637 biolink:Protein UniProtKB:Q13075 biolink:Protein UniProtKB:Q16637 biolink:Protein Orphanet:83420 biolink:Disease Proximal spinal muscular atrophy type 4 UniProtKB:Q16637 biolink:Protein UniProtKB:Q16637 biolink:Protein Orphanet:83418 biolink:Disease Proximal spinal muscular atrophy type 2 UniProtKB:Q16637 biolink:Protein UniProtKB:Q13075 biolink:Protein UniProtKB:Q16637 biolink:Protein Orphanet:83469 biolink:Disease Desmoplastic small round cell tumor UniProtKB:P19544 biolink:Protein UniProtKB:Q01844 biolink:Protein Orphanet:83465 biolink:Disease Narcolepsy type 2 UniProtKB:O43612 biolink:Protein UniProtKB:P01911 biolink:Protein UniProtKB:P01920 biolink:Protein UniProtKB:Q70YC5 biolink:Protein Orphanet:83473 biolink:Disease Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome UniProtKB:O00459 biolink:Protein UniProtKB:O00459 biolink:Protein UniProtKB:P30279 biolink:Protein UniProtKB:Q9Y243 biolink:Protein Orphanet:83472 biolink:Disease CAMOS syndrome UniProtKB:Q92610 biolink:Protein UniProtKB:Q6P4I2 biolink:Protein Orphanet:83463 biolink:Disease Microtia UniProtKB:O43364 biolink:Protein Orphanet:83461 biolink:Disease Congenital primary aphakia UniProtKB:Q13461 biolink:Protein Orphanet:83454 biolink:Disease Glomuvenous malformation UniProtKB:Q92990 biolink:Protein Orphanet:83620 biolink:Disease Enteric anendocrinosis UniProtKB:Q9Y4Z2 biolink:Protein Orphanet:84081 biolink:Disease Senior-Boichis syndrome UniProtKB:Q9UHG0 biolink:Protein UniProtKB:Q5HYA8 biolink:Protein Orphanet:84090 biolink:Disease Fibronectin glomerulopathy UniProtKB:P02751 biolink:Protein Orphanet:84064 biolink:Disease Syndromic diarrhea UniProtKB:Q6PGP7 biolink:Protein UniProtKB:Q15477 biolink:Protein Orphanet:513436 biolink:Disease Autosomal recessive spastic paraplegia type 78 UniProtKB:Q9NQ11 biolink:Protein Orphanet:83639 biolink:Disease Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency UniProtKB:Q9H3S5 biolink:Protein UniProtKB:Q7Z7B1 biolink:Protein Orphanet:83629 biolink:Disease Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome UniProtKB:O95831 biolink:Protein Orphanet:513456 biolink:Disease Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome UniProtKB:Q9H7D7 biolink:Protein Orphanet:83642 biolink:Disease Microcytic anemia with liver iron overload UniProtKB:P49281 biolink:Protein Orphanet:85163 biolink:Disease Hypomyelination-congenital cataract syndrome UniProtKB:Q9BYI3 biolink:Protein Orphanet:85164 biolink:Disease Camptodactyly-tall stature-scoliosis-hearing loss syndrome UniProtKB:P22607 biolink:Protein Orphanet:85146 biolink:Disease Neurogenic scapuloperoneal syndrome, Kaeser type UniProtKB:P17661 biolink:Protein Orphanet:85142 biolink:Disease NON RARE IN EUROPE: Aldosterone-producing adenoma UniProtKB:P48544 biolink:Protein UniProtKB:P35222 biolink:Protein UniProtKB:Q16720 biolink:Protein UniProtKB:Q01668 biolink:Protein UniProtKB:P05023 biolink:Protein Orphanet:85128 biolink:Disease Bothnia retinal dystrophy UniProtKB:P12271 biolink:Protein Orphanet:85136 biolink:Disease Cystic leukoencephalopathy without megalencephaly UniProtKB:O43678 biolink:Protein UniProtKB:O00584 biolink:Protein Orphanet:85112 biolink:Disease Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome UniProtKB:Q2MKA7 biolink:Protein Orphanet:84132 biolink:Disease Desmin-related myopathy with Mallory body-like inclusions UniProtKB:Q9NZV5 biolink:Protein Orphanet:85186 biolink:Disease Endosteal sclerosis-cerebellar hypoplasia syndrome UniProtKB:Q9NW08 biolink:Protein Orphanet:85182 biolink:Disease Diaphyseal medullary stenosis-bone malignancy syndrome UniProtKB:Q13126 biolink:Protein Orphanet:85179 biolink:Disease Infantile osteopetrosis with neuroaxonal dysplasia UniProtKB:Q86WC4 biolink:Protein Orphanet:85173 biolink:Disease IMAGe syndrome UniProtKB:P49918 biolink:Protein UniProtKB:Q07864 biolink:Protein Orphanet:85172 biolink:Disease Microcephalic osteodysplastic dysplasia, Saul-Wilson type UniProtKB:Q9H9E3 biolink:Protein Orphanet:85169 biolink:Disease Familial digital arthropathy-brachydactyly UniProtKB:Q9HBA0 biolink:Protein Orphanet:85167 biolink:Disease Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome UniProtKB:P49585 biolink:Protein Orphanet:85166 biolink:Disease Platyspondylic dysplasia, Torrance type UniProtKB:P02458 biolink:Protein Orphanet:85165 biolink:Disease Severe achondroplasia-developmental delay-acanthosis nigricans syndrome UniProtKB:P22607 biolink:Protein Orphanet:603689 biolink:Disease KLHL7-related Bohring-Opitz-like syndrome UniProtKB:Q8IXQ5 biolink:Protein Orphanet:603684 biolink:Disease KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome UniProtKB:Q8IXQ5 biolink:Protein Orphanet:603694 biolink:Disease KLHL7-related cold-induced sweating-like syndrome UniProtKB:Q8IXQ5 biolink:Protein Orphanet:610573 biolink:Disease CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome UniProtKB:P51797 biolink:Protein Orphanet:610569 biolink:Disease KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome UniProtKB:Q2LD37 biolink:Protein Orphanet:611201 biolink:Disease Oculogastrointestinal-neurodevelopmental syndrome UniProtKB:O75808 biolink:Protein Orphanet:600668 biolink:Disease CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome UniProtKB:O75909 biolink:Protein Orphanet:600663 biolink:Disease NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance UniProtKB:Q9ULB1 biolink:Protein Orphanet:97244 biolink:Disease Rigid spine syndrome UniProtKB:P68133 biolink:Protein UniProtKB:Q9NZV5 biolink:Protein Orphanet:97249 biolink:Disease Pontocerebellar hypoplasia type 3 UniProtKB:Q9Y6V0 biolink:Protein Orphanet:97279 biolink:Disease Insulinoma UniProtKB:P25490 biolink:Protein UniProtKB:O00255 biolink:Protein Orphanet:97286 biolink:Disease Carney-Stratakis syndrome UniProtKB:P21912 biolink:Protein UniProtKB:Q99643 biolink:Protein UniProtKB:O14521 biolink:Protein Orphanet:97297 biolink:Disease Bohring-Opitz syndrome UniProtKB:Q8IXJ9 biolink:Protein Orphanet:97338 biolink:Disease Melanoma of soft tissue UniProtKB:Q01844 biolink:Protein UniProtKB:P18846 biolink:Protein UniProtKB:P16220 biolink:Protein Orphanet:97346 biolink:Disease ADan amyloidosis UniProtKB:Q9Y287 biolink:Protein Orphanet:97345 biolink:Disease ABri amyloidosis UniProtKB:Q9Y287 biolink:Protein Orphanet:97362 biolink:Disease Renal hypoplasia, bilateral UniProtKB:Q02962 biolink:Protein UniProtKB:P40424 biolink:Protein Orphanet:97363 biolink:Disease Unilateral multicystic dysplastic kidney UniProtKB:P35680 biolink:Protein Orphanet:97364 biolink:Disease Bilateral multicystic dysplastic kidney UniProtKB:P35680 biolink:Protein Orphanet:97369 biolink:Disease Renal tubular dysgenesis of genetic origin UniProtKB:P12821 biolink:Protein UniProtKB:P01019 biolink:Protein UniProtKB:P00797 biolink:Protein UniProtKB:P30556 biolink:Protein Orphanet:97548 biolink:Disease Right sided atrial isomerism UniProtKB:P27539 biolink:Protein Orphanet:96182 biolink:Disease Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 UniProtKB:Q13322 biolink:Protein Orphanet:96191 biolink:Disease Paternal uniparental disomy of chromosome 6 UniProtKB:Q9UM63 biolink:Protein Orphanet:96184 biolink:Disease Temple syndrome due to maternal uniparental disomy of chromosome 14 UniProtKB:P80370 biolink:Protein UniProtKB:A6NKG5 biolink:Protein Orphanet:96253 biolink:Disease Cushing disease UniProtKB:Q9H251 biolink:Protein UniProtKB:Q86UV5 biolink:Protein UniProtKB:P15056 biolink:Protein UniProtKB:P40818 biolink:Protein UniProtKB:P04150 biolink:Protein UniProtKB:P04637 biolink:Protein UniProtKB:P46100 biolink:Protein Orphanet:96266 biolink:Disease Leydig cell hypoplasia due to partial LH resistance UniProtKB:P22888 biolink:Protein Orphanet:96265 biolink:Disease Leydig cell hypoplasia due to complete LH resistance UniProtKB:P22888 biolink:Protein Orphanet:96334 biolink:Disease Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 UniProtKB:P80370 biolink:Protein UniProtKB:A6NKG5 biolink:Protein Orphanet:97234 biolink:Disease Glycogen storage disease due to phosphoglycerate mutase deficiency UniProtKB:P15259 biolink:Protein Orphanet:97238 biolink:Disease Rippling muscle disease UniProtKB:P56539 biolink:Protein Orphanet:97239 biolink:Disease Reducing body myopathy UniProtKB:Q13642 biolink:Protein Orphanet:97240 biolink:Disease Zebra body myopathy UniProtKB:P68133 biolink:Protein Orphanet:97562 biolink:Disease NON RARE IN EUROPE: Benign familial hematuria UniProtKB:Q01955 biolink:Protein UniProtKB:P53420 biolink:Protein UniProtKB:P29400 biolink:Protein Orphanet:97685 biolink:Disease 17q11 microdeletion syndrome UniProtKB:P21359 biolink:Protein Orphanet:95706 biolink:Disease Non-syndromic posterior hypospadias UniProtKB:P10275 biolink:Protein UniProtKB:Q13495 biolink:Protein Orphanet:95702 biolink:Disease X-linked adrenal hypoplasia congenita UniProtKB:P51843 biolink:Protein Orphanet:95716 biolink:Disease Familial thyroid dyshormonogenesis UniProtKB:Q92911 biolink:Protein UniProtKB:P07202 biolink:Protein UniProtKB:Q9NRD8 biolink:Protein UniProtKB:Q1HG44 biolink:Protein UniProtKB:P01266 biolink:Protein UniProtKB:Q6PHW0 biolink:Protein Orphanet:95713 biolink:Disease Athyreosis UniProtKB:O00358 biolink:Protein UniProtKB:P43699 biolink:Protein UniProtKB:O43511 biolink:Protein UniProtKB:P16473 biolink:Protein UniProtKB:P52952 biolink:Protein UniProtKB:Q06710 biolink:Protein Orphanet:95712 biolink:Disease Thyroid ectopia UniProtKB:P52952 biolink:Protein UniProtKB:Q06710 biolink:Protein Orphanet:95699 biolink:Disease Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency UniProtKB:P16435 biolink:Protein Orphanet:95698 biolink:Disease NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency UniProtKB:P08686 biolink:Protein Orphanet:95496 biolink:Disease Pituitary stalk interruption syndrome UniProtKB:Q9BZH6 biolink:Protein UniProtKB:Q9Y6N7 biolink:Protein UniProtKB:Q8NFJ6 biolink:Protein UniProtKB:Q9UBX0 biolink:Protein UniProtKB:Q969G2 biolink:Protein UniProtKB:Q4KMG0 biolink:Protein UniProtKB:Q8N6U8 biolink:Protein Orphanet:95494 biolink:Disease Combined pituitary hormone deficiencies, genetic forms UniProtKB:Q9Y261 biolink:Protein UniProtKB:P28069 biolink:Protein UniProtKB:O75360 biolink:Protein UniProtKB:Q9UBX0 biolink:Protein UniProtKB:P32243 biolink:Protein UniProtKB:Q969G2 biolink:Protein UniProtKB:P10070 biolink:Protein Orphanet:95433 biolink:Disease Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome UniProtKB:Q13608 biolink:Protein Orphanet:95434 biolink:Disease Autosomal recessive cerebellar ataxia-movement disorder syndrome UniProtKB:P49754 biolink:Protein UniProtKB:Q5THJ4 biolink:Protein Orphanet:95232 biolink:Disease Lissencephaly due to LIS1 mutation UniProtKB:P43034 biolink:Protein Orphanet:95159 biolink:Disease Hepatoerythropoietic porphyria UniProtKB:P06132 biolink:Protein Orphanet:95428 biolink:Disease COG8-CDG UniProtKB:Q96MW5 biolink:Protein Orphanet:94122 biolink:Disease Cerebellar ataxia, Cayman type UniProtKB:Q86WG3 biolink:Protein Orphanet:94124 biolink:Disease Spinocerebellar ataxia with axonal neuropathy type 1 UniProtKB:Q9NUW8 biolink:Protein Orphanet:94125 biolink:Disease Recessive mitochondrial ataxia syndrome UniProtKB:P54098 biolink:Protein Orphanet:94147 biolink:Disease Spinocerebellar ataxia type 7 UniProtKB:O15265 biolink:Protein Orphanet:94150 biolink:Disease Anonychia congenita totalis UniProtKB:Q2I0M5 biolink:Protein Orphanet:94064 biolink:Disease Deafness-infertility syndrome UniProtKB:Q96P56 biolink:Protein UniProtKB:Q7RTU9 biolink:Protein Orphanet:94063 biolink:Disease 12q14 microdeletion syndrome UniProtKB:Q9Y2U8 biolink:Protein UniProtKB:P52926 biolink:Protein Orphanet:94065 biolink:Disease 15q24 microdeletion syndrome UniProtKB:Q96ST3 biolink:Protein Orphanet:94068 biolink:Disease Spondyloepiphyseal dysplasia congenita UniProtKB:P02458 biolink:Protein Orphanet:94083 biolink:Disease Partington syndrome UniProtKB:Q96QS3 biolink:Protein Orphanet:94088 biolink:Disease Hereditary renal hypouricemia UniProtKB:Q96S37 biolink:Protein UniProtKB:Q9NRM0 biolink:Protein Orphanet:94089 biolink:Disease Pseudohypoparathyroidism type 1B UniProtKB:P63092 biolink:Protein UniProtKB:O14662 biolink:Protein Orphanet:96147 biolink:Disease Kleefstra syndrome due to 9q34 microdeletion UniProtKB:Q9H9B1 biolink:Protein Orphanet:95720 biolink:Disease Thyroid hypoplasia UniProtKB:O43511 biolink:Protein UniProtKB:P16473 biolink:Protein UniProtKB:Q06710 biolink:Protein Orphanet:597623 biolink:Disease IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome UniProtKB:Q9H1B7 biolink:Protein Orphanet:597733 biolink:Disease Oculocutaneous albinism type 8 UniProtKB:P40126 biolink:Protein Orphanet:597939 biolink:Disease Euthyroid dysprealbuminemic hyperthyroxinemia UniProtKB:P02766 biolink:Protein Orphanet:93552 biolink:Disease Pediatric systemic lupus erythematosus UniProtKB:Q14765 biolink:Protein UniProtKB:P10451 biolink:Protein UniProtKB:P51617 biolink:Protein Orphanet:597874 biolink:Disease MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome UniProtKB:P49914 biolink:Protein Orphanet:93562 biolink:Disease AFib amyloidosis UniProtKB:P02671 biolink:Protein Orphanet:598603 biolink:Disease Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome UniProtKB:Q9NYG8 biolink:Protein Orphanet:93560 biolink:Disease AApoAI amyloidosis UniProtKB:P02647 biolink:Protein Orphanet:93561 biolink:Disease ALys amyloidosis UniProtKB:P61626 biolink:Protein Orphanet:93571 biolink:Disease Dense deposit disease UniProtKB:P08603 biolink:Protein UniProtKB:Q03591 biolink:Protein Orphanet:93474 biolink:Disease Scheie syndrome UniProtKB:P35475 biolink:Protein Orphanet:93476 biolink:Disease Hurler-Scheie syndrome UniProtKB:P35475 biolink:Protein Orphanet:93473 biolink:Disease Hurler syndrome UniProtKB:P35475 biolink:Protein Orphanet:93399 biolink:Disease Juvenile sialidosis type 2 UniProtKB:Q99519 biolink:Protein Orphanet:93400 biolink:Disease Congenital sialidosis type 2 UniProtKB:Q99519 biolink:Protein Orphanet:599373 biolink:Disease STXBP1-related encephalopathy UniProtKB:P61764 biolink:Protein Orphanet:599376 biolink:Disease Hypomyelination of early myelinating structures UniProtKB:P60201 biolink:Protein Orphanet:93405 biolink:Disease Syndactyly type 4 UniProtKB:Q15465 biolink:Protein UniProtKB:Q8WVP7 biolink:Protein Orphanet:599418 biolink:Disease Hereditary angioedema with normal C1Inh not related to F12 or PLG variant UniProtKB:Q15389 biolink:Protein UniProtKB:Q9NZM1 biolink:Protein UniProtKB:P01042 biolink:Protein UniProtKB:Q96QI5 biolink:Protein Orphanet:93404 biolink:Disease Syndactyly type 3 UniProtKB:P17302 biolink:Protein Orphanet:93406 biolink:Disease Syndactyly type 5 UniProtKB:P35453 biolink:Protein Orphanet:93409 biolink:Disease Brachydactyly-syndactyly, Zhao type UniProtKB:P35453 biolink:Protein Orphanet:93360 biolink:Disease Spondyloepimetaphyseal dysplasia with multiple dislocations UniProtKB:Q14807 biolink:Protein Orphanet:93359 biolink:Disease Spondyloepimetaphyseal dysplasia with joint laxity UniProtKB:Q9Y2D4 biolink:Protein UniProtKB:Q96L58 biolink:Protein Orphanet:93358 biolink:Disease Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome UniProtKB:Q16832 biolink:Protein Orphanet:93357 biolink:Disease SPONASTRIME dysplasia UniProtKB:Q96HA7 biolink:Protein Orphanet:599082 biolink:Disease CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome UniProtKB:Q12873 biolink:Protein Orphanet:93372 biolink:Disease Familial hypocalciuric hypercalcemia type 1 UniProtKB:P41180 biolink:Protein Orphanet:93387 biolink:Disease Brachydactyly type E UniProtKB:P35453 biolink:Protein UniProtKB:P12272 biolink:Protein Orphanet:93388 biolink:Disease Brachydactyly type A1 UniProtKB:O00238 biolink:Protein UniProtKB:P43026 biolink:Protein UniProtKB:Q14623 biolink:Protein Orphanet:93384 biolink:Disease Brachydactyly type C UniProtKB:O00238 biolink:Protein UniProtKB:P43026 biolink:Protein Orphanet:93385 biolink:Disease NON RARE IN EUROPE: Brachydactyly type D UniProtKB:P35453 biolink:Protein Orphanet:93396 biolink:Disease Brachydactyly type A2 UniProtKB:P12643 biolink:Protein UniProtKB:P43026 biolink:Protein UniProtKB:O00238 biolink:Protein Orphanet:93932 biolink:Disease FG syndrome type 1 UniProtKB:Q93074 biolink:Protein Orphanet:93930 biolink:Disease Bladder exstrophy UniProtKB:Q9H3D4 biolink:Protein UniProtKB:P61371 biolink:Protein Orphanet:93926 biolink:Disease Midline interhemispheric variant of holoprosencephaly UniProtKB:Q15468 biolink:Protein UniProtKB:Q13635 biolink:Protein UniProtKB:Q15465 biolink:Protein UniProtKB:O95343 biolink:Protein UniProtKB:Q15583 biolink:Protein UniProtKB:O95409 biolink:Protein UniProtKB:P10070 biolink:Protein UniProtKB:P13385 biolink:Protein UniProtKB:O75593 biolink:Protein UniProtKB:P55075 biolink:Protein UniProtKB:Q96F81 biolink:Protein UniProtKB:Q4KMG0 biolink:Protein UniProtKB:Q96S42 biolink:Protein UniProtKB:O00548 biolink:Protein UniProtKB:P54826 biolink:Protein Orphanet:93924 biolink:Disease Lobar holoprosencephaly UniProtKB:Q15468 biolink:Protein UniProtKB:P11362 biolink:Protein UniProtKB:Q13635 biolink:Protein UniProtKB:Q15465 biolink:Protein UniProtKB:O95343 biolink:Protein UniProtKB:Q15583 biolink:Protein UniProtKB:O95409 biolink:Protein UniProtKB:P10070 biolink:Protein UniProtKB:P13385 biolink:Protein UniProtKB:O75593 biolink:Protein UniProtKB:P55075 biolink:Protein UniProtKB:Q96F81 biolink:Protein UniProtKB:Q4KMG0 biolink:Protein UniProtKB:Q96S42 biolink:Protein UniProtKB:O00548 biolink:Protein UniProtKB:P54826 biolink:Protein Orphanet:93925 biolink:Disease Alobar holoprosencephaly UniProtKB:Q15468 biolink:Protein UniProtKB:Q4KWH8 biolink:Protein UniProtKB:Q8N3U4 biolink:Protein UniProtKB:Q13635 biolink:Protein UniProtKB:Q15465 biolink:Protein UniProtKB:O95343 biolink:Protein UniProtKB:Q15583 biolink:Protein UniProtKB:O95409 biolink:Protein UniProtKB:P10070 biolink:Protein UniProtKB:P13385 biolink:Protein UniProtKB:O75593 biolink:Protein UniProtKB:P55075 biolink:Protein UniProtKB:Q96F81 biolink:Protein UniProtKB:Q4KMG0 biolink:Protein UniProtKB:Q96S42 biolink:Protein UniProtKB:O00548 biolink:Protein UniProtKB:P54826 biolink:Protein Orphanet:93921 biolink:Disease Full schwannomatosis UniProtKB:P35240 biolink:Protein UniProtKB:Q12824 biolink:Protein UniProtKB:Q9Y2Z9 biolink:Protein UniProtKB:Q8N653 biolink:Protein Orphanet:93952 biolink:Disease X-linked intellectual disability, Hedera type UniProtKB:O75787 biolink:Protein Orphanet:595109 biolink:Disease Atypical Timothy syndrome UniProtKB:Q13936 biolink:Protein Orphanet:93950 biolink:Disease X-linked intellectual disability, Sutherland-Haan type UniProtKB:O60828 biolink:Protein Orphanet:595098 biolink:Disease Timothy syndrome type 1 UniProtKB:Q13936 biolink:Protein Orphanet:93947 biolink:Disease X-linked intellectual disability, Golabi-Ito-Hall type UniProtKB:O60828 biolink:Protein Orphanet:595105 biolink:Disease Timothy syndrome type 2 UniProtKB:Q13936 biolink:Protein Orphanet:93946 biolink:Disease Hamel cerebro-palato-cardiac syndrome UniProtKB:O60828 biolink:Protein Orphanet:93945 biolink:Disease X-linked intellectual disability, Porteous type UniProtKB:O60828 biolink:Protein Orphanet:93616 biolink:Disease Hemoglobin H disease UniProtKB:P69905 biolink:Protein UniProtKB:P69905 biolink:Protein Orphanet:93622 biolink:Disease Dent disease type 1 UniProtKB:P51795 biolink:Protein Orphanet:93623 biolink:Disease Dent disease type 2 UniProtKB:Q01968 biolink:Protein Orphanet:93591 biolink:Disease Infantile nephronophthisis UniProtKB:Q7Z494 biolink:Protein UniProtKB:Q9Y283 biolink:Protein UniProtKB:Q86SG6 biolink:Protein UniProtKB:Q7Z4L5 biolink:Protein UniProtKB:Q68DC2 biolink:Protein UniProtKB:Q9Y592 biolink:Protein UniProtKB:Q2M1K9 biolink:Protein Orphanet:93592 biolink:Disease Juvenile nephronophthisis UniProtKB:O15259 biolink:Protein UniProtKB:O75161 biolink:Protein UniProtKB:Q9BZE0 biolink:Protein UniProtKB:Q8NEZ3 biolink:Protein UniProtKB:Q68DC2 biolink:Protein UniProtKB:O60336 biolink:Protein UniProtKB:Q9P2N4 biolink:Protein Orphanet:93589 biolink:Disease Late-onset nephronophthisis UniProtKB:Q7Z494 biolink:Protein UniProtKB:Q9NQH7 biolink:Protein UniProtKB:O60336 biolink:Protein Orphanet:93598 biolink:Disease Primary hyperoxaluria type 1 UniProtKB:P21549 biolink:Protein Orphanet:596008 biolink:Disease Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis UniProtKB:P21802 biolink:Protein Orphanet:93583 biolink:Disease Congenital thrombotic thrombocytopenic purpura UniProtKB:Q76LX8 biolink:Protein Orphanet:93581 biolink:Disease Atypical hemolytic uremic syndrome with anti-factor H antibodies UniProtKB:Q03591 biolink:Protein UniProtKB:Q02985 biolink:Protein UniProtKB:Q9BXR6 biolink:Protein UniProtKB:Q92496 biolink:Protein Orphanet:93610 biolink:Disease Distal renal tubular acidosis with anemia UniProtKB:P02730 biolink:Protein Orphanet:93608 biolink:Disease Autosomal dominant distal renal tubular acidosis UniProtKB:P02730 biolink:Protein Orphanet:93607 biolink:Disease Autosomal recessive proximal renal tubular acidosis UniProtKB:Q9Y6R1 biolink:Protein Orphanet:93613 biolink:Disease Cystinuria type B UniProtKB:P82251 biolink:Protein Orphanet:93612 biolink:Disease Cystinuria type A UniProtKB:Q07837 biolink:Protein Orphanet:93602 biolink:Disease Xanthinuria type II UniProtKB:Q96EN8 biolink:Protein Orphanet:93601 biolink:Disease Xanthinuria type I UniProtKB:P47989 biolink:Protein Orphanet:93600 biolink:Disease Primary hyperoxaluria type 3 UniProtKB:Q86XE5 biolink:Protein Orphanet:93599 biolink:Disease Primary hyperoxaluria type 2 UniProtKB:Q9UBQ7 biolink:Protein Orphanet:93606 biolink:Disease Nephrogenic syndrome of inappropriate antidiuresis UniProtKB:P30518 biolink:Protein Orphanet:596753 biolink:Disease VEXAS syndrome UniProtKB:P22314 biolink:Protein Orphanet:93605 biolink:Disease Bartter syndrome type 3 UniProtKB:P51801 biolink:Protein Orphanet:99068 biolink:Disease Complete atrioventricular septal defect-tetralogy of Fallot UniProtKB:P24468 biolink:Protein UniProtKB:P43694 biolink:Protein UniProtKB:Q96HD1 biolink:Protein Orphanet:99067 biolink:Disease Complete atrioventricular septal defect with ventricular hypoplasia UniProtKB:P24468 biolink:Protein UniProtKB:Q96HD1 biolink:Protein UniProtKB:Q92908 biolink:Protein UniProtKB:P43694 biolink:Protein Orphanet:99106 biolink:Disease Atrial septal defect, ostium primum type UniProtKB:O43897 biolink:Protein Orphanet:99105 biolink:Disease Atrial septal defect, sinus venosus type UniProtKB:Q99967 biolink:Protein Orphanet:99103 biolink:Disease Atrial septal defect, ostium secundum type UniProtKB:P68032 biolink:Protein UniProtKB:P43694 biolink:Protein UniProtKB:P13533 biolink:Protein UniProtKB:P52952 biolink:Protein UniProtKB:Q9UMR3 biolink:Protein UniProtKB:Q9UMR3 biolink:Protein UniProtKB:O43897 biolink:Protein UniProtKB:Q99967 biolink:Protein UniProtKB:Q92908 biolink:Protein Orphanet:99141 biolink:Disease Lymphedema-posterior choanal atresia syndrome UniProtKB:Q15678 biolink:Protein Orphanet:99361 biolink:Disease Familial medullary thyroid carcinoma UniProtKB:Q92731 biolink:Protein UniProtKB:P04629 biolink:Protein UniProtKB:P07949 biolink:Protein Orphanet:99657 biolink:Disease Primary dystonia, DYT2 type UniProtKB:P84074 biolink:Protein Orphanet:99429 biolink:Disease Complete androgen insensitivity syndrome UniProtKB:P10275 biolink:Protein Orphanet:99646 biolink:Disease Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria UniProtKB:O75874 biolink:Protein Orphanet:592574 biolink:Disease Menke-Hennekam syndrome UniProtKB:Q92793 biolink:Protein Orphanet:592564 biolink:Disease GNAO1-related developmental delay-seizures-movement disorder spectrum UniProtKB:P09471 biolink:Protein Orphanet:592570 biolink:Disease TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome UniProtKB:Q6Q0C0 biolink:Protein Orphanet:99718 biolink:Disease Leber plus disease UniProtKB:P03905 biolink:Protein UniProtKB:P03923 biolink:Protein UniProtKB:P03897 biolink:Protein Orphanet:99725 biolink:Disease Pituitary gigantism UniProtKB:O00170 biolink:Protein UniProtKB:O00255 biolink:Protein Orphanet:589821 biolink:Disease Congenital-onset Steinert myotonic dystrophy UniProtKB:Q09013 biolink:Protein Orphanet:589827 biolink:Disease Juvenile-onset Steinert myotonic dystrophy UniProtKB:Q09013 biolink:Protein Orphanet:589824 biolink:Disease Childhood-onset Steinert myotonic dystrophy UniProtKB:Q09013 biolink:Protein Orphanet:589833 biolink:Disease Late-onset Steinert myotonic dystrophy UniProtKB:Q09013 biolink:Protein Orphanet:589830 biolink:Disease Adult-onset Steinert myotonic dystrophy UniProtKB:Q09013 biolink:Protein Orphanet:589905 biolink:Disease PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome UniProtKB:Q8WWQ0 biolink:Protein Orphanet:589856 biolink:Disease Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome UniProtKB:O14686 biolink:Protein Orphanet:99749 biolink:Disease Kostmann syndrome UniProtKB:O00165 biolink:Protein Orphanet:99757 biolink:Disease Embryonal rhabdomyosarcoma UniProtKB:Q96BI1 biolink:Protein UniProtKB:P04637 biolink:Protein UniProtKB:P21359 biolink:Protein UniProtKB:Q9UPY3 biolink:Protein Orphanet:99756 biolink:Disease Alveolar rhabdomyosarcoma UniProtKB:Q12778 biolink:Protein UniProtKB:P23760 biolink:Protein UniProtKB:P23759 biolink:Protein UniProtKB:P21359 biolink:Protein UniProtKB:P04637 biolink:Protein Orphanet:99734 biolink:Disease Myotonia fluctuans UniProtKB:P35499 biolink:Protein Orphanet:99731 biolink:Disease Isolated sulfite oxidase deficiency UniProtKB:P51687 biolink:Protein Orphanet:99735 biolink:Disease Myotonia permanens UniProtKB:P35499 biolink:Protein Orphanet:99736 biolink:Disease Acetazolamide-responsive myotonia UniProtKB:P35499 biolink:Protein Orphanet:99741 biolink:Disease King-Denborough syndrome UniProtKB:P21817 biolink:Protein Orphanet:99742 biolink:Disease Amish lethal microcephaly UniProtKB:Q9HC21 biolink:Protein Orphanet:98820 biolink:Disease Familial focal epilepsy with variable foci UniProtKB:O75140 biolink:Protein UniProtKB:Q8WTW4 biolink:Protein UniProtKB:Q12980 biolink:Protein Orphanet:98818 biolink:Disease Landau-Kleffner syndrome UniProtKB:Q12879 biolink:Protein Orphanet:98813 biolink:Disease Hypohidrotic ectodermal dysplasia with immunodeficiency UniProtKB:Q9Y6K9 biolink:Protein UniProtKB:P25963 biolink:Protein Orphanet:98811 biolink:Disease Paroxysmal exertion-induced dyskinesia UniProtKB:P11166 biolink:Protein UniProtKB:Q7Z6L0 biolink:Protein Orphanet:98810 biolink:Disease Paroxysmal non-kinesigenic dyskinesia UniProtKB:Q8N490 biolink:Protein UniProtKB:Q7Z6L0 biolink:Protein Orphanet:98809 biolink:Disease Paroxysmal kinesigenic dyskinesia UniProtKB:Q7Z6L0 biolink:Protein UniProtKB:Q09470 biolink:Protein Orphanet:98808 biolink:Disease Autosomal dominant dopa-responsive dystonia UniProtKB:P30793 biolink:Protein UniProtKB:P43354 biolink:Protein UniProtKB:P12268 biolink:Protein Orphanet:98807 biolink:Disease Primary dystonia, DYT13 type Orphanet:98838 biolink:Disease Primary mediastinal large B-cell lymphoma UniProtKB:P41182 biolink:Protein UniProtKB:O14980 biolink:Protein Orphanet:98835 biolink:Disease Acute undifferentiated leukemia UniProtKB:Q03164 biolink:Protein Orphanet:98833 biolink:Disease Acute myeloblastic leukemia without maturation UniProtKB:P36888 biolink:Protein UniProtKB:P06748 biolink:Protein Orphanet:98834 biolink:Disease Acute myeloblastic leukemia with maturation UniProtKB:P36888 biolink:Protein UniProtKB:P10721 biolink:Protein UniProtKB:P06748 biolink:Protein Orphanet:98831 biolink:Disease Acute myeloid leukemia with 11q23 abnormalities UniProtKB:Q03164 biolink:Protein Orphanet:98832 biolink:Disease Acute myeloid leukemia with minimal differentiation UniProtKB:P36888 biolink:Protein Orphanet:98829 biolink:Disease Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) UniProtKB:P36888 biolink:Protein UniProtKB:P35749 biolink:Protein UniProtKB:Q13951 biolink:Protein UniProtKB:P10721 biolink:Protein Orphanet:98827 biolink:Disease Unclassified myelodysplastic syndrome UniProtKB:P23769 biolink:Protein Orphanet:98826 biolink:Disease Refractory anemia UniProtKB:Q6N021 biolink:Protein Orphanet:98823 biolink:Disease Chronic myelomonocytic leukemia UniProtKB:P09619 biolink:Protein UniProtKB:P41212 biolink:Protein UniProtKB:Q8IXJ9 biolink:Protein UniProtKB:Q01130 biolink:Protein Orphanet:98824 biolink:Disease Atypical chronic myeloid leukemia UniProtKB:Q99062 biolink:Protein Orphanet:98853 biolink:Disease Autosomal dominant Emery-Dreifuss muscular dystrophy UniProtKB:P02545 biolink:Protein UniProtKB:Q8NF91 biolink:Protein UniProtKB:Q9BTV4 biolink:Protein UniProtKB:Q8WXH0 biolink:Protein Orphanet:98850 biolink:Disease Aggressive systemic mastocytosis UniProtKB:Q6N021 biolink:Protein UniProtKB:Q01130 biolink:Protein UniProtKB:Q8IXJ9 biolink:Protein UniProtKB:Q01196 biolink:Protein UniProtKB:P22681 biolink:Protein Orphanet:98849 biolink:Disease Systemic mastocytosis with associated hematologic neoplasm UniProtKB:P10721 biolink:Protein UniProtKB:Q6N021 biolink:Protein UniProtKB:Q01130 biolink:Protein UniProtKB:Q8IXJ9 biolink:Protein Orphanet:98843 biolink:Disease Classic Hodgkin lymphoma, nodular sclerosis type UniProtKB:Q8IXV7 biolink:Protein Orphanet:98839 biolink:Disease Intravascular large B-cell lymphoma UniProtKB:P41182 biolink:Protein UniProtKB:P10415 biolink:Protein Orphanet:98842 biolink:Disease Lymphomatoid papulosis UniProtKB:P29597 biolink:Protein UniProtKB:P06748 biolink:Protein Orphanet:589608 biolink:Disease Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies UniProtKB:P61586 biolink:Protein Orphanet:589595 biolink:Disease Mixed phenotype acute leukemia with t(v;11q23.3) UniProtKB:P36888 biolink:Protein UniProtKB:Q03164 biolink:Protein Orphanet:98868 biolink:Disease Southeast Asian ovalocytosis UniProtKB:P02730 biolink:Protein Orphanet:98869 biolink:Disease Congenital dyserythropoietic anemia type I UniProtKB:Q8IWY9 biolink:Protein UniProtKB:Q9Y2V0 biolink:Protein Orphanet:589618 biolink:Disease Dystonia 28 UniProtKB:Q9UMN6 biolink:Protein Orphanet:98870 biolink:Disease Congenital dyserythropoietic anemia type III UniProtKB:Q02241 biolink:Protein Orphanet:589534 biolink:Disease Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) UniProtKB:P36888 biolink:Protein UniProtKB:Q03164 biolink:Protein Orphanet:98863 biolink:Disease X-linked Emery-Dreifuss muscular dystrophy UniProtKB:P50402 biolink:Protein UniProtKB:Q13642 biolink:Protein Orphanet:589527 biolink:Disease Spinocerebellar ataxia type 45 UniProtKB:Q9NYQ8 biolink:Protein Orphanet:589547 biolink:Disease GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder UniProtKB:Q13224 biolink:Protein Orphanet:589442 biolink:Disease Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome UniProtKB:Q9UG56 biolink:Protein Orphanet:589435 biolink:Disease Spondylometaphyseal dysplasia-corneal dystrophy syndrome UniProtKB:Q01970 biolink:Protein Orphanet:589522 biolink:Disease Spinocerebellar ataxia type 46 UniProtKB:Q8IV08 biolink:Protein Orphanet:589515 biolink:Disease PUM1-associated developmental disability-ataxia-seizure syndrome UniProtKB:Q14671 biolink:Protein Orphanet:98855 biolink:Disease Autosomal recessive Emery-Dreifuss muscular dystrophy UniProtKB:P02545 biolink:Protein Orphanet:98856 biolink:Disease Charcot-Marie-Tooth disease type 2B1 UniProtKB:P02545 biolink:Protein Orphanet:98881 biolink:Disease Familial dysfibrinogenemia UniProtKB:P02671 biolink:Protein UniProtKB:P02675 biolink:Protein UniProtKB:P02679 biolink:Protein Orphanet:98880 biolink:Disease Familial afibrinogenemia UniProtKB:P02671 biolink:Protein UniProtKB:P02675 biolink:Protein UniProtKB:P02679 biolink:Protein Orphanet:98885 biolink:Disease Bleeding diathesis due to glycoprotein VI deficiency UniProtKB:Q9HCN6 biolink:Protein Orphanet:98873 biolink:Disease Congenital dyserythropoietic anemia type II UniProtKB:Q15437 biolink:Protein Orphanet:98897 biolink:Disease Oculopharyngodistal myopathy UniProtKB:P0DPK4 biolink:Protein UniProtKB:O14908 biolink:Protein Orphanet:98895 biolink:Disease Becker muscular dystrophy UniProtKB:P11532 biolink:Protein Orphanet:98896 biolink:Disease Duchenne muscular dystrophy UniProtKB:P11532 biolink:Protein UniProtKB:Q8N2S1 biolink:Protein Orphanet:98902 biolink:Disease Amish nemaline myopathy UniProtKB:P13805 biolink:Protein Orphanet:98889 biolink:Disease Bilateral perisylvian polymicrogyria UniProtKB:O60687 biolink:Protein UniProtKB:Q9Y653 biolink:Protein UniProtKB:P42356 biolink:Protein Orphanet:98890 biolink:Disease Early-onset X-linked optic atrophy Orphanet:98892 biolink:Disease Periventricular nodular heterotopia UniProtKB:Q9Y6D5 biolink:Protein UniProtKB:P21333 biolink:Protein UniProtKB:Q5T6L9 biolink:Protein UniProtKB:Q96PU5 biolink:Protein UniProtKB:Q6ZXV5 biolink:Protein UniProtKB:P84077 biolink:Protein UniProtKB:P46821 biolink:Protein Orphanet:98912 biolink:Disease Late-onset distal myopathy, Markesbery-Griggs type UniProtKB:O75112 biolink:Protein Orphanet:98911 biolink:Disease Distal myotilinopathy UniProtKB:Q9UBF9 biolink:Protein Orphanet:98914 biolink:Disease Presynaptic congenital myasthenic syndromes UniProtKB:P28329 biolink:Protein UniProtKB:O00468 biolink:Protein UniProtKB:P53007 biolink:Protein UniProtKB:P60880 biolink:Protein UniProtKB:Q8N9I0 biolink:Protein UniProtKB:B2RTY4 biolink:Protein UniProtKB:Q9GZV3 biolink:Protein UniProtKB:P23763 biolink:Protein UniProtKB:Q16572 biolink:Protein UniProtKB:Q5TAT6 biolink:Protein Orphanet:98913 biolink:Disease Postsynaptic congenital myasthenic syndromes UniProtKB:Q13702 biolink:Protein UniProtKB:P35499 biolink:Protein UniProtKB:P02708 biolink:Protein UniProtKB:P02708 biolink:Protein UniProtKB:P11230 biolink:Protein UniProtKB:P11230 biolink:Protein UniProtKB:Q07001 biolink:Protein UniProtKB:Q07001 biolink:Protein UniProtKB:Q04844 biolink:Protein UniProtKB:Q04844 biolink:Protein UniProtKB:Q18PE1 biolink:Protein UniProtKB:O15146 biolink:Protein UniProtKB:O75096 biolink:Protein UniProtKB:O00468 biolink:Protein UniProtKB:Q5TCS8 biolink:Protein UniProtKB:Q5TAT6 biolink:Protein Orphanet:98916 biolink:Disease Acute inflammatory demyelinating polyradiculoneuropathy UniProtKB:Q01453 biolink:Protein Orphanet:98915 biolink:Disease Synaptic congenital myasthenic syndromes UniProtKB:Q9Y215 biolink:Protein UniProtKB:P55268 biolink:Protein Orphanet:98904 biolink:Disease Congenital myopathy with excess of thin filaments UniProtKB:P68133 biolink:Protein Orphanet:98905 biolink:Disease Congenital multicore myopathy with external ophthalmoplegia UniProtKB:P21817 biolink:Protein Orphanet:98908 biolink:Disease Neutral lipid storage myopathy UniProtKB:Q96AD5 biolink:Protein Orphanet:98907 biolink:Disease Neutral lipid storage disease with ichthyosis UniProtKB:Q8WTS1 biolink:Protein Orphanet:98909 biolink:Disease Desminopathy UniProtKB:P17661 biolink:Protein Orphanet:98933 biolink:Disease Multiple system atrophy, parkinsonian type UniProtKB:Q96H96 biolink:Protein Orphanet:98934 biolink:Disease Huntington disease-like 2 UniProtKB:Q8WXH2 biolink:Protein Orphanet:98920 biolink:Disease Spinal muscular atrophy with respiratory distress type 1 UniProtKB:P38935 biolink:Protein Orphanet:98942 biolink:Disease Coloboma of choroid and retina UniProtKB:P63261 biolink:Protein UniProtKB:Q13467 biolink:Protein UniProtKB:Q9Y467 biolink:Protein UniProtKB:Q9NP58 biolink:Protein UniProtKB:P26367 biolink:Protein Orphanet:98938 biolink:Disease Colobomatous microphthalmia UniProtKB:Q15465 biolink:Protein UniProtKB:Q9BX79 biolink:Protein UniProtKB:P58304 biolink:Protein UniProtKB:Q6KF10 biolink:Protein UniProtKB:Q9NR23 biolink:Protein UniProtKB:Q9NP58 biolink:Protein UniProtKB:Q9P273 biolink:Protein UniProtKB:P02753 biolink:Protein UniProtKB:P48431 biolink:Protein UniProtKB:O95475 biolink:Protein UniProtKB:P32243 biolink:Protein UniProtKB:Q9Y2V3 biolink:Protein UniProtKB:P47895 biolink:Protein UniProtKB:Q9H237 biolink:Protein Orphanet:98949 biolink:Disease Complete cryptophthalmia UniProtKB:Q5SZK8 biolink:Protein Orphanet:98947 biolink:Disease Coloboma of optic disc UniProtKB:Q13467 biolink:Protein UniProtKB:Q9Y467 biolink:Protein UniProtKB:Q9NP58 biolink:Protein UniProtKB:P26367 biolink:Protein Orphanet:98945 biolink:Disease Coloboma of macula UniProtKB:Q13467 biolink:Protein UniProtKB:Q9Y467 biolink:Protein UniProtKB:Q9NP58 biolink:Protein UniProtKB:P26367 biolink:Protein Orphanet:98946 biolink:Disease Coloboma of eyelid UniProtKB:Q13467 biolink:Protein UniProtKB:Q9Y467 biolink:Protein UniProtKB:Q9NP58 biolink:Protein UniProtKB:P26367 biolink:Protein Orphanet:98943 biolink:Disease Coloboma of eye lens UniProtKB:Q13467 biolink:Protein UniProtKB:Q9Y467 biolink:Protein UniProtKB:Q9NP58 biolink:Protein UniProtKB:P26367 biolink:Protein Orphanet:98944 biolink:Disease Coloboma of iris UniProtKB:P63261 biolink:Protein UniProtKB:Q13467 biolink:Protein UniProtKB:Q9Y467 biolink:Protein UniProtKB:Q9NP58 biolink:Protein UniProtKB:P26367 biolink:Protein Orphanet:98957 biolink:Disease Gelatinous drop-like corneal dystrophy UniProtKB:P09758 biolink:Protein Orphanet:98956 biolink:Disease Epithelial basement membrane dystrophy UniProtKB:Q15582 biolink:Protein Orphanet:98954 biolink:Disease Meesmann corneal dystrophy UniProtKB:Q99456 biolink:Protein UniProtKB:P12035 biolink:Protein Orphanet:98964 biolink:Disease Lattice corneal dystrophy type I UniProtKB:Q15582 biolink:Protein Orphanet:98963 biolink:Disease Granular corneal dystrophy type II UniProtKB:Q15582 biolink:Protein Orphanet:98962 biolink:Disease Granular corneal dystrophy type I UniProtKB:Q15582 biolink:Protein Orphanet:98961 biolink:Disease Reis-Bücklers corneal dystrophy UniProtKB:Q15582 biolink:Protein Orphanet:98960 biolink:Disease Thiel-Behnke corneal dystrophy UniProtKB:Q15582 biolink:Protein Orphanet:98973 biolink:Disease Posterior polymorphous corneal dystrophy UniProtKB:Q9NZR4 biolink:Protein UniProtKB:P37275 biolink:Protein UniProtKB:P25067 biolink:Protein UniProtKB:Q9BRP0 biolink:Protein UniProtKB:Q6ISB3 biolink:Protein Orphanet:98974 biolink:Disease Fuchs endothelial corneal dystrophy UniProtKB:Q8NBS3 biolink:Protein UniProtKB:P37275 biolink:Protein UniProtKB:P25067 biolink:Protein UniProtKB:P15884 biolink:Protein UniProtKB:Q96MI9 biolink:Protein Orphanet:98967 biolink:Disease Schnyder corneal dystrophy UniProtKB:Q9Y5Z9 biolink:Protein Orphanet:98969 biolink:Disease Macular corneal dystrophy UniProtKB:Q9GZX3 biolink:Protein Orphanet:98970 biolink:Disease Fleck corneal dystrophy UniProtKB:Q9Y2I7 biolink:Protein Orphanet:98975 biolink:Disease Congenital hereditary endothelial dystrophy type I UniProtKB:Q9BRP0 biolink:Protein Orphanet:98976 biolink:Disease Congenital glaucoma UniProtKB:Q16678 biolink:Protein UniProtKB:Q99972 biolink:Protein UniProtKB:Q14767 biolink:Protein UniProtKB:Q02763 biolink:Protein Orphanet:98977 biolink:Disease Juvenile glaucoma UniProtKB:Q16678 biolink:Protein UniProtKB:Q99972 biolink:Protein UniProtKB:Q12805 biolink:Protein Orphanet:98978 biolink:Disease Axenfeld anomaly UniProtKB:Q99697 biolink:Protein UniProtKB:Q12948 biolink:Protein Orphanet:98988 biolink:Disease Early-onset anterior polar cataract UniProtKB:P02489 biolink:Protein UniProtKB:P26998 biolink:Protein UniProtKB:P07316 biolink:Protein UniProtKB:P53672 biolink:Protein Orphanet:98990 biolink:Disease Coralliform cataract UniProtKB:P07320 biolink:Protein Orphanet:98989 biolink:Disease Cerulean cataract UniProtKB:P43320 biolink:Protein UniProtKB:P07320 biolink:Protein UniProtKB:P30301 biolink:Protein UniProtKB:O75444 biolink:Protein Orphanet:98984 biolink:Disease Pulverulent cataract UniProtKB:Q13515 biolink:Protein UniProtKB:P43320 biolink:Protein UniProtKB:P07315 biolink:Protein UniProtKB:P07320 biolink:Protein UniProtKB:Q9Y6H8 biolink:Protein UniProtKB:P48165 biolink:Protein UniProtKB:P53674 biolink:Protein UniProtKB:O75444 biolink:Protein UniProtKB:P08670 biolink:Protein Orphanet:98985 biolink:Disease Early-onset sutural cataract UniProtKB:Q13515 biolink:Protein UniProtKB:P05813 biolink:Protein UniProtKB:P43320 biolink:Protein UniProtKB:P48165 biolink:Protein UniProtKB:P30301 biolink:Protein UniProtKB:P22914 biolink:Protein Orphanet:98991 biolink:Disease Early-onset nuclear cataract UniProtKB:O76024 biolink:Protein UniProtKB:P02489 biolink:Protein UniProtKB:P02511 biolink:Protein UniProtKB:P05813 biolink:Protein UniProtKB:P43320 biolink:Protein UniProtKB:P26998 biolink:Protein UniProtKB:P07315 biolink:Protein UniProtKB:P07320 biolink:Protein UniProtKB:Q9Y6H8 biolink:Protein UniProtKB:P48165 biolink:Protein UniProtKB:P30301 biolink:Protein UniProtKB:P53674 biolink:Protein UniProtKB:Q6T4R5 biolink:Protein UniProtKB:Q12934 biolink:Protein UniProtKB:P29317 biolink:Protein UniProtKB:Q9BQS8 biolink:Protein UniProtKB:Q8IWX7 biolink:Protein UniProtKB:P53672 biolink:Protein Orphanet:98994 biolink:Disease Total early-onset cataract UniProtKB:P02489 biolink:Protein UniProtKB:P43320 biolink:Protein UniProtKB:P48165 biolink:Protein UniProtKB:Q9ULV5 biolink:Protein UniProtKB:P30301 biolink:Protein UniProtKB:Q6T4R5 biolink:Protein UniProtKB:P55344 biolink:Protein UniProtKB:P29317 biolink:Protein UniProtKB:Q9BQS8 biolink:Protein UniProtKB:Q53H12 biolink:Protein UniProtKB:P07316 biolink:Protein UniProtKB:Q8N0V5 biolink:Protein UniProtKB:P48449 biolink:Protein UniProtKB:O00264 biolink:Protein UniProtKB:Q8NC56 biolink:Protein UniProtKB:Q6XZF7 biolink:Protein UniProtKB:O60292 biolink:Protein Orphanet:98993 biolink:Disease Early-onset posterior polar cataract UniProtKB:O75364 biolink:Protein UniProtKB:P02511 biolink:Protein UniProtKB:P05813 biolink:Protein UniProtKB:Q9Y6H8 biolink:Protein UniProtKB:P30301 biolink:Protein UniProtKB:Q9H444 biolink:Protein UniProtKB:P29317 biolink:Protein UniProtKB:Q9NVE7 biolink:Protein Orphanet:99001 biolink:Disease Butterfly-shaped pigment dystrophy UniProtKB:P23942 biolink:Protein UniProtKB:P32243 biolink:Protein UniProtKB:P35221 biolink:Protein Orphanet:99002 biolink:Disease Reticular dystrophy of the retinal pigment epithelium UniProtKB:Q8NDN9 biolink:Protein Orphanet:99000 biolink:Disease Adult-onset foveomacular vitelliform dystrophy UniProtKB:P23942 biolink:Protein UniProtKB:O76090 biolink:Protein UniProtKB:Q9BZV3 biolink:Protein UniProtKB:Q17R60 biolink:Protein Orphanet:99003 biolink:Disease Multifocal pattern dystrophy simulating fundus flavimaculatus UniProtKB:P23942 biolink:Protein Orphanet:99013 biolink:Disease Spastic paraplegia type 7 UniProtKB:Q9UQ90 biolink:Protein Orphanet:99014 biolink:Disease X-linked Charcot-Marie-Tooth disease type 5 UniProtKB:P60891 biolink:Protein Orphanet:99015 biolink:Disease Spastic paraplegia type 2 UniProtKB:P60201 biolink:Protein Orphanet:585877 biolink:Disease B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality UniProtKB:P16234 biolink:Protein UniProtKB:Q8WXX7 biolink:Protein UniProtKB:Q16534 biolink:Protein UniProtKB:P51825 biolink:Protein UniProtKB:P15923 biolink:Protein UniProtKB:Q9H334 biolink:Protein UniProtKB:Q02548 biolink:Protein UniProtKB:Q02548 biolink:Protein Orphanet:585909 biolink:Disease B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) UniProtKB:P42771 biolink:Protein UniProtKB:P00519 biolink:Protein UniProtKB:P11274 biolink:Protein UniProtKB:Q13422 biolink:Protein UniProtKB:P04637 biolink:Protein UniProtKB:P36888 biolink:Protein UniProtKB:P10321 biolink:Protein Orphanet:585936 biolink:Disease B-lymphoblastic leukemia/lymphoma with hyperdiploidy UniProtKB:P23771 biolink:Protein UniProtKB:P48426 biolink:Protein Orphanet:585918 biolink:Disease B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) UniProtKB:Q03164 biolink:Protein Orphanet:585929 biolink:Disease B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) UniProtKB:P41212 biolink:Protein Orphanet:99027 biolink:Disease Adult-onset autosomal dominant leukodystrophy UniProtKB:P20700 biolink:Protein Orphanet:585956 biolink:Disease B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) UniProtKB:P15923 biolink:Protein UniProtKB:P40424 biolink:Protein Orphanet:585948 biolink:Disease B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) UniProtKB:Q6P089 biolink:Protein Orphanet:99042 biolink:Disease Congenitally uncorrected transposition of the great arteries with coarctation UniProtKB:P0CG37 biolink:Protein Orphanet:98676 biolink:Disease Autosomal recessive isolated optic atrophy UniProtKB:Q96TA2 biolink:Protein UniProtKB:Q99798 biolink:Protein UniProtKB:Q8WWV3 biolink:Protein UniProtKB:Q8IVS2 biolink:Protein Orphanet:98673 biolink:Disease Autosomal dominant optic atrophy, classic form UniProtKB:O60313 biolink:Protein UniProtKB:O00429 biolink:Protein Orphanet:98619 biolink:Disease Rare isolated myopia UniProtKB:O43819 biolink:Protein UniProtKB:Q8IVL5 biolink:Protein UniProtKB:P30533 biolink:Protein Orphanet:583602 biolink:Disease Neu-laxova syndrome due to phosphoserine aminotransferase deficiency UniProtKB:Q9Y617 biolink:Protein Orphanet:583607 biolink:Disease Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency UniProtKB:O43175 biolink:Protein Orphanet:98795 biolink:Disease Angelman syndrome due to paternal uniparental disomy of chromosome 15 UniProtKB:Q05086 biolink:Protein Orphanet:98794 biolink:Disease Angelman syndrome due to maternal 15q11q13 deletion UniProtKB:Q05086 biolink:Protein UniProtKB:Q04671 biolink:Protein Orphanet:98791 biolink:Disease Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 UniProtKB:P69905 biolink:Protein UniProtKB:P69905 biolink:Protein Orphanet:98806 biolink:Disease Primary dystonia, DYT6 type UniProtKB:Q9NVV9 biolink:Protein Orphanet:98805 biolink:Disease Primary dystonia, DYT4 type UniProtKB:P04350 biolink:Protein Orphanet:98784 biolink:Disease Autosomal dominant nocturnal frontal lobe epilepsy UniProtKB:P43681 biolink:Protein UniProtKB:Q15822 biolink:Protein UniProtKB:P17787 biolink:Protein UniProtKB:Q5JUK3 biolink:Protein UniProtKB:O75140 biolink:Protein UniProtKB:P06850 biolink:Protein UniProtKB:P57796 biolink:Protein Orphanet:98764 biolink:Disease Spinocerebellar ataxia type 27 UniProtKB:Q92915 biolink:Protein Orphanet:98763 biolink:Disease Spinocerebellar ataxia type 14 UniProtKB:P05129 biolink:Protein Orphanet:98766 biolink:Disease Spinocerebellar ataxia type 5 UniProtKB:O15020 biolink:Protein Orphanet:98765 biolink:Disease Spinocerebellar ataxia type 4 UniProtKB:Q58EX7 biolink:Protein Orphanet:98760 biolink:Disease Spinocerebellar ataxia type 8 UniProtKB:Q156A1 biolink:Protein UniProtKB:P0DMR3 biolink:Protein Orphanet:98759 biolink:Disease Spinocerebellar ataxia type 17 UniProtKB:P20226 biolink:Protein Orphanet:98762 biolink:Disease Spinocerebellar ataxia type 12 UniProtKB:Q00005 biolink:Protein Orphanet:98761 biolink:Disease Spinocerebellar ataxia type 10 UniProtKB:Q9UBB4 biolink:Protein Orphanet:98772 biolink:Disease Spinocerebellar ataxia type 19/22 UniProtKB:Q9UK17 biolink:Protein Orphanet:98771 biolink:Disease Spinocerebellar ataxia type 18 UniProtKB:O00458 biolink:Protein Orphanet:98773 biolink:Disease Spinocerebellar ataxia type 21 UniProtKB:Q5SV17 biolink:Protein Orphanet:98768 biolink:Disease Spinocerebellar ataxia type 13 UniProtKB:Q14003 biolink:Protein Orphanet:98767 biolink:Disease Spinocerebellar ataxia type 11 UniProtKB:Q6IQ55 biolink:Protein Orphanet:98769 biolink:Disease Spinocerebellar ataxia type 15/16 UniProtKB:Q14643 biolink:Protein Orphanet:580940 biolink:Disease QRICH1-related intellectual disability-chondrodysplasia syndrome UniProtKB:Q2TAL8 biolink:Protein Orphanet:580933 biolink:Disease Lethal brain and heart developmental defects UniProtKB:Q8N6T7 biolink:Protein Orphanet:98755 biolink:Disease Spinocerebellar ataxia type 1 UniProtKB:P54253 biolink:Protein Orphanet:98756 biolink:Disease Spinocerebellar ataxia type 2 UniProtKB:Q99700 biolink:Protein Orphanet:98758 biolink:Disease Spinocerebellar ataxia type 6 UniProtKB:O00555 biolink:Protein Orphanet:581271 biolink:Disease Cramp-fasciculation syndrome UniProtKB:O75762 biolink:Protein Orphanet:98754 biolink:Disease Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 UniProtKB:P63162 biolink:Protein UniProtKB:Q9UJ55 biolink:Protein UniProtKB:Q99608 biolink:Protein UniProtKB:Q04671 biolink:Protein Orphanet:576232 biolink:Disease Partial atrioventricular septal defect with ventricular hypoplasia UniProtKB:P43694 biolink:Protein Orphanet:576235 biolink:Disease Partial atrioventricular septal defect without ventricular hypoplasia UniProtKB:Q96HD1 biolink:Protein Orphanet:576227 biolink:Disease Complete atrioventricular septal defect without ventricular hypoplasia UniProtKB:Q06413 biolink:Protein Orphanet:575553 biolink:Disease Cathepsin A-related arteriopathy-strokes-leukoencephalopathy UniProtKB:P10619 biolink:Protein Orphanet:576349 biolink:Disease NLRC4-related familial cold autoinflammatory syndrome UniProtKB:Q9NPP4 biolink:Protein Orphanet:576283 biolink:Disease SATB2-associated syndrome due to a pathogenic variant UniProtKB:Q9UPW6 biolink:Protein Orphanet:574957 biolink:Disease Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency UniProtKB:P23458 biolink:Protein Orphanet:574918 biolink:Disease Predisposition to severe viral infection due to IRF7 deficiency UniProtKB:Q92985 biolink:Protein Orphanet:572385 biolink:Disease Brachydactyly type B1 UniProtKB:Q01974 biolink:Protein Orphanet:572361 biolink:Disease Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 UniProtKB:P58012 biolink:Protein Orphanet:572428 biolink:Disease Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia UniProtKB:P00973 biolink:Protein Orphanet:98434 biolink:Disease Hereditary combined deficiency of vitamin K-dependent clotting factors UniProtKB:P38435 biolink:Protein UniProtKB:Q9BQB6 biolink:Protein Orphanet:572543 biolink:Disease RFVT2-related riboflavin transporter deficiency UniProtKB:Q9HAB3 biolink:Protein Orphanet:572550 biolink:Disease RFVT3-related riboflavin transporter deficiency UniProtKB:Q9NQ40 biolink:Protein Orphanet:572773 biolink:Disease Microcephaly-short stature-limb abnormalities syndrome UniProtKB:Q9NYP3 biolink:Protein Orphanet:572798 biolink:Disease WARS2-related combined oxidative phosphorylation defect UniProtKB:Q9UGM6 biolink:Protein Orphanet:572768 biolink:Disease Microcephaly-micromelia syndrome UniProtKB:Q9NYP3 biolink:Protein Orphanet:572013 biolink:Disease Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome UniProtKB:Q9UPN3 biolink:Protein UniProtKB:Q5SZL2 biolink:Protein Orphanet:572333 biolink:Disease Blepharophimosis-ptosis-epicanthus inversus syndrome plus UniProtKB:P58012 biolink:Protein Orphanet:572354 biolink:Disease Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 UniProtKB:P58012 biolink:Protein Orphanet:570491 biolink:Disease QRSL1-related combined oxidative phosphorylation defect UniProtKB:Q9H0R6 biolink:Protein Orphanet:570422 biolink:Disease Galactose mutarotase deficiency UniProtKB:Q96C23 biolink:Protein Orphanet:570371 biolink:Disease Bartter syndrome type 5 UniProtKB:Q9UNF1 biolink:Protein Orphanet:104077 biolink:Disease Myopathic intestinal pseudoobstruction UniProtKB:P63267 biolink:Protein Orphanet:103918 biolink:Disease Tropical pancreatitis UniProtKB:P00995 biolink:Protein UniProtKB:Q99895 biolink:Protein Orphanet:103908 biolink:Disease Congenital sodium diarrhea UniProtKB:P25092 biolink:Protein UniProtKB:P48764 biolink:Protein Orphanet:103909 biolink:Disease Trehalase deficiency UniProtKB:O43280 biolink:Protein Orphanet:102724 biolink:Disease Acute myeloid leukemia with t(8;21)(q22;q22) translocation UniProtKB:Q01196 biolink:Protein UniProtKB:P36888 biolink:Protein UniProtKB:P49715 biolink:Protein UniProtKB:Q06455 biolink:Protein UniProtKB:P10721 biolink:Protein Orphanet:101351 biolink:Disease Familial isolated congenital asplenia UniProtKB:P52952 biolink:Protein UniProtKB:P08865 biolink:Protein Orphanet:101150 biolink:Disease Autosomal recessive dopa-responsive dystonia UniProtKB:P07101 biolink:Protein UniProtKB:O95153 biolink:Protein Orphanet:101111 biolink:Disease Spinocerebellar ataxia type 25 UniProtKB:Q8TCS8 biolink:Protein Orphanet:101112 biolink:Disease Spinocerebellar ataxia type 26 UniProtKB:P13639 biolink:Protein Orphanet:101109 biolink:Disease Spinocerebellar ataxia type 28 UniProtKB:Q9Y4W6 biolink:Protein Orphanet:101110 biolink:Disease Spinocerebellar ataxia type 20 Orphanet:101108 biolink:Disease Spinocerebellar ataxia type 23 UniProtKB:P01213 biolink:Protein Orphanet:101085 biolink:Disease Charcot-Marie-Tooth disease type 1F UniProtKB:P07196 biolink:Protein Orphanet:101088 biolink:Disease X-linked hyper-IgM syndrome UniProtKB:P29965 biolink:Protein Orphanet:101081 biolink:Disease Charcot-Marie-Tooth disease type 1A UniProtKB:Q01453 biolink:Protein Orphanet:101082 biolink:Disease Charcot-Marie-Tooth disease type 1B UniProtKB:P25189 biolink:Protein Orphanet:101083 biolink:Disease Charcot-Marie-Tooth disease type 1C UniProtKB:Q99732 biolink:Protein Orphanet:101084 biolink:Disease Charcot-Marie-Tooth disease type 1D UniProtKB:P11161 biolink:Protein Orphanet:101078 biolink:Disease X-linked Charcot-Marie-Tooth disease type 4 UniProtKB:O95831 biolink:Protein Orphanet:101075 biolink:Disease X-linked Charcot-Marie-Tooth disease type 1 UniProtKB:P08034 biolink:Protein Orphanet:101102 biolink:Disease Charcot-Marie-Tooth disease type 2H UniProtKB:Q8TB36 biolink:Protein Orphanet:101101 biolink:Disease Charcot-Marie-Tooth disease type 2B2 UniProtKB:Q96T60 biolink:Protein Orphanet:101097 biolink:Disease Autosomal recessive Charcot-Marie-Tooth disease with hoarseness UniProtKB:Q8TB36 biolink:Protein Orphanet:101090 biolink:Disease Hyper-IgM syndrome type 3 UniProtKB:P25942 biolink:Protein Orphanet:101089 biolink:Disease Hyper-IgM syndrome type 2 UniProtKB:Q9GZX7 biolink:Protein Orphanet:101092 biolink:Disease Hyper-IgM syndrome type 5 UniProtKB:P13051 biolink:Protein Orphanet:101049 biolink:Disease Familial hypocalciuric hypercalcemia type 2 UniProtKB:P29992 biolink:Protein Orphanet:101050 biolink:Disease Familial hypocalciuric hypercalcemia type 3 UniProtKB:P53680 biolink:Protein Orphanet:101041 biolink:Disease Familial hypofibrinogenemia UniProtKB:P02671 biolink:Protein UniProtKB:P02675 biolink:Protein UniProtKB:P02679 biolink:Protein Orphanet:101046 biolink:Disease Autosomal dominant epilepsy with auditory features UniProtKB:P78509 biolink:Protein UniProtKB:O95970 biolink:Protein UniProtKB:O75140 biolink:Protein Orphanet:101068 biolink:Disease Congenital stromal corneal dystrophy UniProtKB:P07585 biolink:Protein Orphanet:101070 biolink:Disease Bilateral frontoparietal polymicrogyria UniProtKB:P60484 biolink:Protein UniProtKB:Q9Y653 biolink:Protein Orphanet:101063 biolink:Disease Situs inversus totalis UniProtKB:Q6ZW76 biolink:Protein UniProtKB:Q9Y5B8 biolink:Protein UniProtKB:Q99967 biolink:Protein UniProtKB:Q96S42 biolink:Protein UniProtKB:Q96M91 biolink:Protein UniProtKB:Q8N1V2 biolink:Protein UniProtKB:Q8N119 biolink:Protein UniProtKB:Q8TDX9 biolink:Protein UniProtKB:Q9NYC9 biolink:Protein Orphanet:101023 biolink:Disease Cleft hard palate UniProtKB:Q8TE85 biolink:Protein UniProtKB:P0CG47 biolink:Protein Orphanet:101009 biolink:Disease Autosomal dominant spastic paraplegia type 29 Orphanet:101010 biolink:Disease Autosomal spastic paraplegia type 30 UniProtKB:Q12756 biolink:Protein Orphanet:101011 biolink:Disease Autosomal dominant spastic paraplegia type 31 UniProtKB:Q9H902 biolink:Protein Orphanet:101016 biolink:Disease Romano-Ward syndrome UniProtKB:Q13061 biolink:Protein UniProtKB:Q12809 biolink:Protein UniProtKB:P51787 biolink:Protein UniProtKB:P56539 biolink:Protein UniProtKB:Q01484 biolink:Protein UniProtKB:P15382 biolink:Protein UniProtKB:Q9Y6J6 biolink:Protein UniProtKB:Q14524 biolink:Protein UniProtKB:Q99996 biolink:Protein UniProtKB:Q8IWT1 biolink:Protein UniProtKB:Q13424 biolink:Protein UniProtKB:P48544 biolink:Protein UniProtKB:O75052 biolink:Protein UniProtKB:P0DP23 biolink:Protein UniProtKB:P0DP24 biolink:Protein UniProtKB:Q9Y5Y9 biolink:Protein UniProtKB:Q99593 biolink:Protein UniProtKB:Q13936 biolink:Protein UniProtKB:P0DP25 biolink:Protein Orphanet:101039 biolink:Disease Female restricted epilepsy with intellectual disability UniProtKB:Q8TAB3 biolink:Protein Orphanet:101028 biolink:Disease Transaldolase deficiency UniProtKB:P37837 biolink:Protein Orphanet:100984 biolink:Disease Autosomal dominant spastic paraplegia type 3 UniProtKB:Q8WXF7 biolink:Protein Orphanet:100991 biolink:Disease Autosomal dominant spastic paraplegia type 10 UniProtKB:Q12840 biolink:Protein Orphanet:100989 biolink:Disease Autosomal dominant spastic paraplegia type 8 UniProtKB:Q12768 biolink:Protein Orphanet:100988 biolink:Disease Autosomal dominant spastic paraplegia type 6 UniProtKB:Q7RTP0 biolink:Protein Orphanet:100986 biolink:Disease Autosomal recessive spastic paraplegia type 5A UniProtKB:O75881 biolink:Protein Orphanet:100985 biolink:Disease Autosomal dominant spastic paraplegia type 4 UniProtKB:Q9UBP0 biolink:Protein Orphanet:100999 biolink:Disease Autosomal dominant spastic paraplegia type 19 Orphanet:101000 biolink:Disease Autosomal recessive spastic paraplegia type 20 UniProtKB:Q8N0X7 biolink:Protein Orphanet:100997 biolink:Disease X-linked spastic paraplegia type 16 Orphanet:100998 biolink:Disease Autosomal dominant spastic paraplegia type 17 UniProtKB:Q96G97 biolink:Protein Orphanet:100995 biolink:Disease Autosomal recessive spastic paraplegia type 14 Orphanet:100996 biolink:Disease Autosomal recessive spastic paraplegia type 15 UniProtKB:Q68DK2 biolink:Protein Orphanet:100993 biolink:Disease Autosomal dominant spastic paraplegia type 12 UniProtKB:Q9NZ09 biolink:Protein UniProtKB:O75298 biolink:Protein Orphanet:100994 biolink:Disease Autosomal dominant spastic paraplegia type 13 UniProtKB:P10809 biolink:Protein Orphanet:101007 biolink:Disease Autosomal recessive spastic paraplegia type 27 Orphanet:101008 biolink:Disease Autosomal recessive spastic paraplegia type 28 UniProtKB:Q8NEL9 biolink:Protein Orphanet:101005 biolink:Disease Autosomal recessive spastic paraplegia type 25 Orphanet:101006 biolink:Disease Autosomal recessive spastic paraplegia type 26 UniProtKB:Q00973 biolink:Protein Orphanet:101003 biolink:Disease Autosomal recessive spastic paraplegia type 23 UniProtKB:Q6XUX3 biolink:Protein Orphanet:101004 biolink:Disease Autosomal recessive spastic paraplegia type 24 Orphanet:101001 biolink:Disease Autosomal recessive spastic paraplegia type 21 UniProtKB:Q9NZD8 biolink:Protein Orphanet:100093 biolink:Disease Carcinoid syndrome UniProtKB:O14521 biolink:Protein Orphanet:100924 biolink:Disease Porphyria due to ALA dehydratase deficiency UniProtKB:P13716 biolink:Protein Orphanet:100973 biolink:Disease FRAXE intellectual disability UniProtKB:P51816 biolink:Protein Orphanet:100974 biolink:Disease FRAXF syndrome UniProtKB:Q8NFB2 biolink:Protein Orphanet:100976 biolink:Disease Bathing suit ichthyosis UniProtKB:P22735 biolink:Protein Orphanet:100054 biolink:Disease F12-related hereditary angioedema with normal C1Inh UniProtKB:P00748 biolink:Protein Orphanet:100051 biolink:Disease Hereditary angioedema type 2 UniProtKB:P05155 biolink:Protein Orphanet:100057 biolink:Disease Renin-angiotensin-aldosterone system-blocker-induced angioedema UniProtKB:O43895 biolink:Protein Orphanet:100069 biolink:Disease Semantic dementia UniProtKB:P49768 biolink:Protein UniProtKB:Q9NUM4 biolink:Protein UniProtKB:Q9UQN3 biolink:Protein UniProtKB:Q9NZC2 biolink:Protein UniProtKB:P10636 biolink:Protein UniProtKB:P28799 biolink:Protein UniProtKB:Q96LT7 biolink:Protein Orphanet:100070 biolink:Disease Progressive non-fluent aphasia UniProtKB:Q9NUM4 biolink:Protein UniProtKB:P49768 biolink:Protein UniProtKB:Q9UQN3 biolink:Protein UniProtKB:Q9NZC2 biolink:Protein UniProtKB:P55072 biolink:Protein UniProtKB:P10636 biolink:Protein UniProtKB:P28799 biolink:Protein UniProtKB:Q96LT7 biolink:Protein Orphanet:100075 biolink:Disease Neuroendocrine tumor of stomach UniProtKB:P46100 biolink:Protein UniProtKB:Q9UER7 biolink:Protein Orphanet:100020 biolink:Disease Refractory anemia with excess blasts type 2 UniProtKB:Q6N021 biolink:Protein Orphanet:100019 biolink:Disease Refractory anemia with excess blasts type 1 UniProtKB:Q6N021 biolink:Protein Orphanet:100032 biolink:Disease Hypocalcified amelogenesis imperfecta UniProtKB:Q6ZRV2 biolink:Protein UniProtKB:Q8NFF2 biolink:Protein UniProtKB:P18564 biolink:Protein UniProtKB:Q6UX39 biolink:Protein Orphanet:100031 biolink:Disease Hypoplastic amelogenesis imperfecta UniProtKB:Q9BZG2 biolink:Protein UniProtKB:Q969Z4 biolink:Protein UniProtKB:Q9NRM1 biolink:Protein UniProtKB:Q13751 biolink:Protein UniProtKB:P18564 biolink:Protein UniProtKB:Q9NP70 biolink:Protein Orphanet:100034 biolink:Disease Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism UniProtKB:O60479 biolink:Protein Orphanet:100033 biolink:Disease Hypomaturation amelogenesis imperfecta UniProtKB:Q15743 biolink:Protein UniProtKB:Q99217 biolink:Protein UniProtKB:Q9Y5K2 biolink:Protein UniProtKB:O60882 biolink:Protein UniProtKB:Q3MJ13 biolink:Protein UniProtKB:Q17RF5 biolink:Protein UniProtKB:Q8NFF2 biolink:Protein Orphanet:100044 biolink:Disease Autosomal dominant intermediate Charcot-Marie-Tooth disease type B UniProtKB:P50570 biolink:Protein Orphanet:100045 biolink:Disease Autosomal dominant intermediate Charcot-Marie-Tooth disease type C UniProtKB:P54577 biolink:Protein Orphanet:100046 biolink:Disease Autosomal dominant intermediate Charcot-Marie-Tooth disease type D UniProtKB:P25189 biolink:Protein Orphanet:100050 biolink:Disease Hereditary angioedema type 1 UniProtKB:P05155 biolink:Protein Orphanet:100008 biolink:Disease ACys amyloidosis UniProtKB:P01034 biolink:Protein Orphanet:100006 biolink:Disease ABeta amyloidosis, Dutch type UniProtKB:P05067 biolink:Protein Orphanet:99989 biolink:Disease Intermediate DEND syndrome UniProtKB:Q14654 biolink:Protein Orphanet:99977 biolink:Disease Squamous cell carcinoma of the esophagus UniProtKB:Q9NZC7 biolink:Protein UniProtKB:Q9Y252 biolink:Protein UniProtKB:P37173 biolink:Protein UniProtKB:Q9Y238 biolink:Protein Orphanet:99971 biolink:Disease Well-differentiated liposarcoma UniProtKB:P11802 biolink:Protein UniProtKB:P52926 biolink:Protein UniProtKB:Q00987 biolink:Protein Orphanet:99970 biolink:Disease Dedifferentiated liposarcoma UniProtKB:P11802 biolink:Protein UniProtKB:P52926 biolink:Protein UniProtKB:Q00987 biolink:Protein Orphanet:99967 biolink:Disease Myxoid/round cell liposarcoma UniProtKB:P35637 biolink:Protein UniProtKB:P35638 biolink:Protein Orphanet:99966 biolink:Disease Atypical teratoid rhabdoid tumor UniProtKB:Q12824 biolink:Protein Orphanet:99961 biolink:Disease Benign recurrent intrahepatic cholestasis type 2 UniProtKB:O95342 biolink:Protein Orphanet:99960 biolink:Disease Benign recurrent intrahepatic cholestasis type 1 UniProtKB:O43520 biolink:Protein Orphanet:99955 biolink:Disease Charcot-Marie-Tooth disease type 4B1 UniProtKB:Q13614 biolink:Protein Orphanet:99956 biolink:Disease Charcot-Marie-Tooth disease type 4B2 UniProtKB:Q86WG5 biolink:Protein Orphanet:99948 biolink:Disease Charcot-Marie-Tooth disease type 4A UniProtKB:Q8TB36 biolink:Protein Orphanet:99947 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2A2 UniProtKB:O95140 biolink:Protein Orphanet:99950 biolink:Disease Charcot-Marie-Tooth disease type 4D UniProtKB:Q92597 biolink:Protein Orphanet:99949 biolink:Disease Charcot-Marie-Tooth disease type 4C UniProtKB:Q8TF17 biolink:Protein Orphanet:99952 biolink:Disease Charcot-Marie-Tooth disease type 4F UniProtKB:Q9BXM0 biolink:Protein Orphanet:99951 biolink:Disease Charcot-Marie-Tooth disease type 4E UniProtKB:P11161 biolink:Protein Orphanet:99954 biolink:Disease Charcot-Marie-Tooth disease type 4H UniProtKB:Q96M96 biolink:Protein Orphanet:99953 biolink:Disease Charcot-Marie-Tooth disease type 4G UniProtKB:P19367 biolink:Protein Orphanet:99940 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2F UniProtKB:P04792 biolink:Protein Orphanet:99939 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2E UniProtKB:P07196 biolink:Protein Orphanet:99942 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2I UniProtKB:P25189 biolink:Protein Orphanet:99944 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2K UniProtKB:Q8TB36 biolink:Protein Orphanet:99943 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2J UniProtKB:P25189 biolink:Protein Orphanet:99946 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2A1 UniProtKB:O60333 biolink:Protein Orphanet:99945 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2L UniProtKB:Q9UJY1 biolink:Protein Orphanet:99936 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2B UniProtKB:P51149 biolink:Protein Orphanet:99937 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2C UniProtKB:Q9HBA0 biolink:Protein Orphanet:99938 biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2D UniProtKB:P41250 biolink:Protein Orphanet:99916 biolink:Disease Malignant Sertoli-Leydig cell tumor of the ovary UniProtKB:Q9UPY3 biolink:Protein Orphanet:99915 biolink:Disease Maligant granulosa cell tumor of the ovary UniProtKB:P58012 biolink:Protein UniProtKB:Q9UPY3 biolink:Protein Orphanet:99914 biolink:Disease Gynandroblastoma UniProtKB:Q9UPY3 biolink:Protein Orphanet:99901 biolink:Disease Acyl-CoA dehydrogenase 9 deficiency UniProtKB:Q9H845 biolink:Protein Orphanet:99898 biolink:Disease Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency UniProtKB:P15260 biolink:Protein Orphanet:99879 biolink:Disease Familial isolated hyperparathyroidism UniProtKB:O75603 biolink:Protein UniProtKB:Q6P1J9 biolink:Protein UniProtKB:O00255 biolink:Protein Orphanet:99880 biolink:Disease Hyperparathyroidism-jaw tumor syndrome UniProtKB:Q6P1J9 biolink:Protein Orphanet:99887 biolink:Disease Acute megakaryoblastic leukemia in Down syndrome UniProtKB:P15976 biolink:Protein Orphanet:99885 biolink:Disease Isolated permanent neonatal diabetes mellitus UniProtKB:P40763 biolink:Protein UniProtKB:Q09428 biolink:Protein UniProtKB:P35557 biolink:Protein UniProtKB:Q14654 biolink:Protein UniProtKB:P52945 biolink:Protein UniProtKB:P01308 biolink:Protein Orphanet:99886 biolink:Disease Transient neonatal diabetes mellitus UniProtKB:Q09428 biolink:Protein UniProtKB:Q14654 biolink:Protein UniProtKB:Q9UM63 biolink:Protein UniProtKB:Q9NU63 biolink:Protein Orphanet:99861 biolink:Disease Precursor T-cell acute lymphoblastic leukemia UniProtKB:P00519 biolink:Protein UniProtKB:Q01105 biolink:Protein UniProtKB:P35658 biolink:Protein UniProtKB:Q05516 biolink:Protein UniProtKB:Q9Y467 biolink:Protein UniProtKB:P0DSE1 biolink:Protein UniProtKB:P11274 biolink:Protein UniProtKB:P42771 biolink:Protein UniProtKB:P17542 biolink:Protein UniProtKB:P36888 biolink:Protein UniProtKB:P01106 biolink:Protein UniProtKB:Q15468 biolink:Protein UniProtKB:P10242 biolink:Protein UniProtKB:P0DSE2 biolink:Protein UniProtKB:P56279 biolink:Protein UniProtKB:P31314 biolink:Protein UniProtKB:O43711 biolink:Protein UniProtKB:O75175 biolink:Protein UniProtKB:P55197 biolink:Protein UniProtKB:P31943 biolink:Protein UniProtKB:O00571 biolink:Protein UniProtKB:Q13492 biolink:Protein Orphanet:99849 biolink:Disease Glycogen storage disease due to muscle beta-enolase deficiency UniProtKB:P13929 biolink:Protein Orphanet:99845 biolink:Disease Genetic recurrent myoglobinuria UniProtKB:P00395 biolink:Protein UniProtKB:P00414 biolink:Protein UniProtKB:Q14693 biolink:Protein Orphanet:99843 biolink:Disease Leukocyte adhesion deficiency type II UniProtKB:Q96A29 biolink:Protein Orphanet:99844 biolink:Disease Leukocyte adhesion deficiency type III UniProtKB:Q86UX7 biolink:Protein Orphanet:99853 biolink:Disease Ovarioleukodystrophy UniProtKB:Q14232 biolink:Protein UniProtKB:P49770 biolink:Protein UniProtKB:Q9NR50 biolink:Protein UniProtKB:Q9UI10 biolink:Protein UniProtKB:Q13144 biolink:Protein UniProtKB:Q5JTZ9 biolink:Protein Orphanet:99854 biolink:Disease Cree leukoencephalopathy UniProtKB:Q14232 biolink:Protein UniProtKB:P49770 biolink:Protein UniProtKB:Q9NR50 biolink:Protein UniProtKB:Q9UI10 biolink:Protein UniProtKB:Q13144 biolink:Protein Orphanet:99852 biolink:Disease Ravine syndrome Orphanet:99832 biolink:Disease Resistance to thyrotropin-releasing hormone syndrome UniProtKB:P34981 biolink:Protein Orphanet:99842 biolink:Disease Leukocyte adhesion deficiency type I UniProtKB:P05107 biolink:Protein Orphanet:99811 biolink:Disease Neuronal intestinal pseudoobstruction UniProtKB:P21333 biolink:Protein Orphanet:99812 biolink:Disease LIG4 syndrome UniProtKB:Q13426 biolink:Protein UniProtKB:P49917 biolink:Protein Orphanet:99818 biolink:Disease Turcot syndrome with polyposis UniProtKB:P25054 biolink:Protein Orphanet:99819 biolink:Disease Familial gestational hyperthyroidism UniProtKB:P16473 biolink:Protein Orphanet:99796 biolink:Disease Subcortical band heterotopia UniProtKB:O43602 biolink:Protein UniProtKB:P43034 biolink:Protein UniProtKB:O00423 biolink:Protein Orphanet:99798 biolink:Disease Oligodontia UniProtKB:P63165 biolink:Protein UniProtKB:Q9Y2T1 biolink:Protein UniProtKB:Q92838 biolink:Protein UniProtKB:Q8WWZ3 biolink:Protein UniProtKB:P11362 biolink:Protein UniProtKB:O14896 biolink:Protein UniProtKB:Q9GZT5 biolink:Protein UniProtKB:P28360 biolink:Protein UniProtKB:P55771 biolink:Protein UniProtKB:P01135 biolink:Protein UniProtKB:O75581 biolink:Protein UniProtKB:O00744 biolink:Protein Orphanet:99802 biolink:Disease Hemimegalencephaly UniProtKB:P42336 biolink:Protein UniProtKB:Q9Y243 biolink:Protein UniProtKB:P42345 biolink:Protein Orphanet:99803 biolink:Disease Haddad syndrome UniProtKB:Q99453 biolink:Protein UniProtKB:P07949 biolink:Protein UniProtKB:P50553 biolink:Protein Orphanet:99806 biolink:Disease Oculootodental syndrome UniProtKB:P11487 biolink:Protein UniProtKB:Q13158 biolink:Protein Orphanet:99807 biolink:Disease PEHO-like syndrome UniProtKB:Q3V6T2 biolink:Protein Orphanet:99810 biolink:Disease Familial porencephaly UniProtKB:P02462 biolink:Protein UniProtKB:P08572 biolink:Protein Orphanet:99789 biolink:Disease Dentin dysplasia type I UniProtKB:Q9Y2M2 biolink:Protein UniProtKB:Q9NZW4 biolink:Protein UniProtKB:O75351 biolink:Protein Orphanet:99791 biolink:Disease Dentin dysplasia type II UniProtKB:Q9NZW4 biolink:Protein Orphanet:99772 biolink:Disease Cleft velum UniProtKB:Q8TE85 biolink:Protein UniProtKB:P0CG47 biolink:Protein Orphanet:99771 biolink:Disease Bifid uvula UniProtKB:P0CG47 biolink:Protein UniProtKB:Q8TE85 biolink:Protein Orphanet:631073 biolink:Disease Autosomal recessive spastic paraplegia type 82 UniProtKB:Q99447 biolink:Protein Orphanet:631076 biolink:Disease Autosomal recessive spastic paraplegia type 83 UniProtKB:Q96IR7 biolink:Protein Orphanet:631079 biolink:Disease Autosomal recessive spastic paraplegia type 84 UniProtKB:P42356 biolink:Protein Orphanet:631082 biolink:Disease Autosomal recessive spastic paraplegia type 85 UniProtKB:Q96K19 biolink:Protein Orphanet:631068 biolink:Disease Autosomal dominant spastic paraplegia type 80 UniProtKB:Q9NZ09 biolink:Protein Orphanet:631106 biolink:Disease Spinocerebellar ataxia type 49 UniProtKB:Q8IVG5 biolink:Protein Orphanet:631103 biolink:Disease Spinocerebellar ataxia type 48 UniProtKB:Q9UNE7 biolink:Protein Orphanet:631095 biolink:Disease Spinocerebellar ataxia type 44 UniProtKB:Q13255 biolink:Protein Orphanet:631088 biolink:Disease Autosomal recessive spastic paraplegia type 87 UniProtKB:Q9P1W3 biolink:Protein Orphanet:631085 biolink:Disease Autosomal recessive spastic paraplegia type 86 UniProtKB:O95870 biolink:Protein Orphanet:631248 biolink:Disease Mitchell Syndrome UniProtKB:Q15067 biolink:Protein Orphanet:633021 biolink:Disease SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome UniProtKB:P55011 biolink:Protein Orphanet:633024 biolink:Disease SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome UniProtKB:P55011 biolink:Protein Orphanet:633004 biolink:Disease KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome UniProtKB:Q7LBC6 biolink:Protein Orphanet:633035 biolink:Disease Intellectual disability-early-onset cataract-microcephaly syndrome Orphanet:633028 biolink:Disease CPE-related Prader-Willi-like syndrome Orphanet:621758 biolink:Disease Fibrosis-neurodegeneration-cerebral angiomatosis syndrome UniProtKB:Q8NBF2 biolink:Protein Orphanet:620371 biolink:Disease Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation Orphanet:620368 biolink:Disease EGF-related primary hypomagnesemia with intellectual disability UniProtKB:P01133 biolink:Protein Orphanet:620363 biolink:Disease Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome UniProtKB:Q9H8M5 biolink:Protein Orphanet:620220 biolink:Disease Bartter syndrome type 2 UniProtKB:P48048 biolink:Protein Orphanet:620158 biolink:Disease Non-syndromic non-specific multisutural craniosynostosis UniProtKB:Q9BT04 biolink:Protein Orphanet:623695 biolink:Disease MIR140-related spondyloepiphyseal dysplasia Orphanet:622925 biolink:Disease X-linked severe syndromic thoracic aortic aneurysm and dissection UniProtKB:P21810 biolink:Protein Orphanet:622934 biolink:Disease SBDS-related severe neonatal spondylometaphyseal dysplasia UniProtKB:Q9Y3A5 biolink:Protein Orphanet:617919 biolink:Disease F12-associated cold autoinflammatory syndrome UniProtKB:P00748 biolink:Protein Orphanet:619941 biolink:Disease Immune deficiency due to impaired neutrophil phagocytosis and migration UniProtKB:Q969V6 biolink:Protein Orphanet:619367 biolink:Disease SAMD9L-associated autoinflammatory syndrome UniProtKB:Q8IVG5 biolink:Protein Orphanet:619953 biolink:Disease Familial hyperinflammatory lymphoproliferative immunodeficiency UniProtKB:P55160 biolink:Protein Orphanet:619948 biolink:Disease Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome UniProtKB:O15524 biolink:Protein Orphanet:619979 biolink:Disease Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome UniProtKB:Q16236 biolink:Protein Orphanet:619972 biolink:Disease CADINS disease UniProtKB:Q9BXL7 biolink:Protein Orphanet:619363 biolink:Disease Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 UniProtKB:P60953 biolink:Protein Orphanet:619233 biolink:Disease Hereditary persistence of fetal hemoglobin-intellectual disability syndrome UniProtKB:Q9H165 biolink:Protein