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biolink:NamedThing orphanet.nt L31 owl:Class ENSEMBL:ENSG00000071082 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=RPL31 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:P62899 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/617415 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:P62899 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1033 biolink:NamedThing orphanet.nt neurotrophin owl:Class ORPHA:661 biolink:NamedThing|biolink:Disease Ondine syndrome orphanet.nt owl:Class ORPHA:893 biolink:NamedThing|biolink:Disease WAGR syndrome orphanet.nt owl:Class ENSEMBL:ENSG00000176697 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=BDNF biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:P23560 biolink:Gene|biolink:NamedThing 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biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/180470 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:P04843 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10383 biolink:NamedThing orphanet.nt MGC88819|S10 owl:Class ENSEMBL:ENSG00000124614 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=RPS10 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:P46783 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/603632 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:P46783 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10387 biolink:NamedThing orphanet.nt 40S ribosomal protein S14|emetine resistance|EMTB|S14 owl:Class ORPHA:86841 biolink:NamedThing|biolink:Disease Myelodysplastic syndrome associated with 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https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11179 biolink:NamedThing orphanet.nt IPOA owl:Class ENSEMBL:ENSG00000142168 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=SOD1 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:P00441 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/147450 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:P00441 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11183 biolink:NamedThing orphanet.nt BASS1|Bax antagonist selected in Saccharomyces 1|DBP-5|FLJ21099|FLJ33914|KIAA1019|negative regulatory element-binding protein|NRE-binding protein|NREBP owl:Class ORPHA:500150 biolink:NamedThing|biolink:Disease Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome orphanet.nt owl:Class ENSEMBL:ENSG00000159140 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=SON biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:P18583 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/182465 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11185 biolink:NamedThing orphanet.nt gp250|LDLR relative with 11 ligand-binding repeats|LR11|LRP9|SorLA|SorLA-1 owl:Class ORPHA:238616 biolink:NamedThing|biolink:Disease NON RARE IN EUROPE: Alzheimer disease orphanet.nt owl:Class ORPHA:1020 biolink:NamedThing|biolink:Disease Early-onset autosomal dominant Alzheimer disease orphanet.nt owl:Class ENSEMBL:ENSG00000137642 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=SORL1 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q92673 biolink:Gene|biolink:NamedThing orphanet.nt 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biolink:NamedThing orphanet.nt owl:Class ENSEMBL:ENSG00000100485 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=SOS2 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q07890 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/601247 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q07890 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11190 biolink:NamedThing orphanet.nt DOM|dominant megacolon, mouse, human homolog of|WS2E|WS4 owl:Class ORPHA:163746 biolink:NamedThing|biolink:Disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease orphanet.nt owl:Class ORPHA:897 biolink:NamedThing|biolink:Disease Waardenburg-Shah syndrome orphanet.nt owl:Class ENSEMBL:ENSG00000100146 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=SOX10 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:P56693 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/602229 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:P56693 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11191 biolink:NamedThing orphanet.nt SRY-related HMG-box gene 11 owl:Class ENSEMBL:ENSG00000176887 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=SOX11 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:P35716 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/600898 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11194 biolink:NamedThing orphanet.nt owl:Class ORPHA:69735 biolink:NamedThing|biolink:Disease Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome orphanet.nt owl:Class ENSEMBL:ENSG00000203883 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=SOX18 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:P35713 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/601618 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11195 biolink:NamedThing orphanet.nt owl:Class ORPHA:3157 biolink:NamedThing|biolink:Disease Septo-optic dysplasia spectrum orphanet.nt owl:Class ORPHA:77298 biolink:NamedThing|biolink:Disease Anophthalmia/microphthalmia-esophageal atresia syndrome orphanet.nt owl:Class ENSEMBL:ENSG00000181449 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=SOX2 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:P48431 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/184429 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:P48431 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11199 biolink:NamedThing orphanet.nt owl:Class ORPHA:393 biolink:NamedThing|biolink:Disease 46,XX testicular disorder of sex development orphanet.nt owl:Class ORPHA:90695 biolink:NamedThing|biolink:Disease Non-acquired panhypopituitarism orphanet.nt owl:Class ORPHA:67045 biolink:NamedThing|biolink:Disease X-linked intellectual disability with isolated growth hormone deficiency orphanet.nt owl:Class ORPHA:79495 biolink:NamedThing|biolink:Disease X-linked congenital generalized hypertrichosis orphanet.nt owl:Class ENSEMBL:ENSG00000134595 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=SOX3 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:P41225 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/313430 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:P41225 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11200 biolink:NamedThing orphanet.nt owl:Class ENSEMBL:ENSG00000124766 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q06945 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/184430 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q06945 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11201 biolink:NamedThing orphanet.nt L-SOX5|MGC35153 owl:Class ORPHA:313884 biolink:NamedThing|biolink:Disease 12p12.1 microdeletion syndrome orphanet.nt owl:Class ORPHA:313892 biolink:NamedThing|biolink:Disease Developmental and speech delay due to SOX5 deficiency orphanet.nt owl:Class ENSEMBL:ENSG00000134532 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orphanet.nt owl:Class ENSEMBL:ENSG00000125398 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=SOX9 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:P48436 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/608160 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:P48436 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11212 biolink:NamedThing orphanet.nt CILD28|CT140|FLJ32920|HSD-3.8|SP75|TPIS owl:Class ENSEMBL:ENSG00000104450 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=SPAG1 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q07617 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/603395 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class 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REACT:Q01831 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12823 biolink:NamedThing orphanet.nt owl:Class ORPHA:100057 biolink:NamedThing|biolink:Disease Renin-angiotensin-aldosterone system-blocker-induced angioedema orphanet.nt owl:Class ENSEMBL:ENSG00000122121 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=XPNPEP2 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:O43895 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/300145 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1579 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O43895 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12825 biolink:NamedThing orphanet.nt chromosome region maintenance 1 homolog (yeast)|CRM-1|CRM1|emb owl:Class ENSEMBL:ENSG00000082898 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=XPO1 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:O14980 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/602559 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3014 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O14980 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12827 biolink:NamedThing orphanet.nt SLC53A1|solute carrier family 53 (phosphate exporter), member 1|SYG1|X3 owl:Class ENSEMBL:ENSG00000143324 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=XPR1 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q9UBH6 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/605237 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3021 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12829 biolink:NamedThing orphanet.nt FANCU|RAD51-like owl:Class ENSEMBL:ENSG00000196584 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=XRCC2 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:O43543 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/600375 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:O43543 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12831 biolink:NamedThing orphanet.nt DNA repair protein XRCC4|X-ray repair, complementing defective, repair in Chinese hamster owl:Class ORPHA:99812 biolink:NamedThing|biolink:Disease LIG4 syndrome orphanet.nt owl:Class ORPHA:436182 biolink:NamedThing|biolink:Disease Microcephalic primordial dwarfism-insulin resistance syndrome orphanet.nt owl:Class ENSEMBL:ENSG00000152422 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=XRCC4 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q13426 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/194363 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q13426 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12840 biolink:NamedThing orphanet.nt tyrosine tRNA ligase 1, cytoplasmic|tyrRS|YRS|YTS owl:Class ORPHA:100045 biolink:NamedThing|biolink:Disease Autosomal dominant intermediate Charcot-Marie-Tooth disease type C orphanet.nt owl:Class ENSEMBL:ENSG00000134684 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=YARS biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:P54577 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/603623 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:P54577 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12843 biolink:NamedThing orphanet.nt YME1L owl:Class ENSEMBL:ENSG00000136758 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/607472 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12851 biolink:NamedThing orphanet.nt 14-3-3 epsilon|FLJ45465 owl:Class ORPHA:213711 biolink:NamedThing|biolink:Disease Endometrial stromal sarcoma orphanet.nt owl:Class ORPHA:217385 biolink:NamedThing|biolink:Disease 17p13.3 microduplication syndrome orphanet.nt owl:Class ORPHA:261257 biolink:NamedThing|biolink:Disease Distal 17p13.3 microdeletion syndrome orphanet.nt owl:Class ORPHA:531 biolink:NamedThing|biolink:Disease Miller-Dieker syndrome orphanet.nt owl:Class ENSEMBL:ENSG00000108953 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=YWHAE biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:P62258 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/605066 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:P62258 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12852 biolink:NamedThing orphanet.nt 14-3-3 gamma|PPP1R170|protein phosphatase 1, regulatory subunit 170 owl:Class ENSEMBL:ENSG00000170027 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=YWHAG biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:P61981 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/605356 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:P61981 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12856 biolink:NamedThing orphanet.nt DELTA|INO80 complex subunit S|INO80S|NF-E1|UCRBP|Yin and Yang 1 protein|YIN-YANG-1 owl:Class ORPHA:506358 biolink:NamedThing|biolink:Disease Gabriele-de Vries syndrome orphanet.nt owl:Class ORPHA:97279 biolink:NamedThing|biolink:Disease Insulinoma orphanet.nt owl:Class ENSEMBL:ENSG00000100811 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=YY1 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:P25490 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/600013 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:P25490 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12858 biolink:NamedThing orphanet.nt STD|tyrosine-protein kinase ZAP-70|ZAP-70 owl:Class ORPHA:911 biolink:NamedThing|biolink:Disease Combined immunodeficiency due to ZAP70 deficiency orphanet.nt owl:Class ENSEMBL:ENSG00000115085 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=ZAP70 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:P43403 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/176947 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2285 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P43403 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12872 biolink:NamedThing orphanet.nt ZIC|ZNF201 owl:Class ORPHA:269212 biolink:NamedThing|biolink:Disease 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http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=ZIC2 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:O95409 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/603073 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12874 biolink:NamedThing orphanet.nt HTX|ZNF203 owl:Class ORPHA:157769 biolink:NamedThing|biolink:Disease Situs ambiguus orphanet.nt owl:Class ORPHA:216718 biolink:NamedThing|biolink:Disease Isolated congenitally uncorrected transposition of the great arteries orphanet.nt owl:Class ENSEMBL:ENSG00000156925 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=ZIC3 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:O60481 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/300265 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:O60481 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12877 biolink:NamedThing orphanet.nt CAAX prenyl protease 1 homolog|FACE-1|HGPS|Hutchinson-Gilford progeria syndrome|PRO1|STE24|Ste24p owl:Class ORPHA:1662 biolink:NamedThing|biolink:Disease Restrictive dermopathy orphanet.nt owl:Class ORPHA:740 biolink:NamedThing|biolink:Disease Hutchinson-Gilford progeria syndrome orphanet.nt owl:Class ORPHA:90154 biolink:NamedThing|biolink:Disease Mandibuloacral dysplasia with type B lipodystrophy orphanet.nt owl:Class ENSEMBL:ENSG00000084073 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=ZMPSTE24 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:O75844 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/606480 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:O75844 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12926 biolink:NamedThing orphanet.nt pHZ-44 owl:Class ORPHA:93334 biolink:NamedThing|biolink:Disease Postaxial polydactyly type A orphanet.nt owl:Class ENSEMBL:ENSG00000131127 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=ZNF141 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q15928 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/194648 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q15928 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12930 biolink:NamedThing orphanet.nt PLZF|promyelocytic leukaemia zinc finger owl:Class ENSEMBL:ENSG00000109906 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=ZBTB16 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q05516 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/176797 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q05516 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12974 biolink:NamedThing orphanet.nt Cwc24|RNF113 owl:Class ENSEMBL:ENSG00000125352 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=RNF113A biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:O15541 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/300951 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:129 biolink:NamedThing orphanet.nt NEM3|nemaline myopathy type 3 owl:Class ORPHA:171430 biolink:NamedThing|biolink:Disease Severe congenital nemaline myopathy orphanet.nt owl:Class ORPHA:447977 biolink:NamedThing|biolink:Disease 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Acute myeloid leukemia with t(8;16)(p11;p13) translocation orphanet.nt owl:Class ORPHA:457193 biolink:NamedThing|biolink:Disease Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome orphanet.nt owl:Class ENSEMBL:ENSG00000083168 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=KAT6A biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q92794 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/601408 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2665 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q92794 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1301 biolink:NamedThing orphanet.nt CILD26|FBB18|FLJ20467|Kur|kurly homolog (zebrafish) owl:Class ENSEMBL:ENSG00000159079 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biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2435 biolink:NamedThing orphanet.nt ORPHA:264675 biolink:NamedThing|biolink:Disease Hereditary pulmonary alveolar proteinosis orphanet.nt owl:Class !/hgnc_id/HGNC:24123 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:5173 biolink:NamedThing orphanet.nt ORPHA:79414 biolink:NamedThing|biolink:Disease Woolly hair nevus orphanet.nt owl:Class !/hgnc_id/HGNC:3688 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:76 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:35126 biolink:NamedThing orphanet.nt ORPHA:3329 biolink:NamedThing|biolink:Disease Tibial aplasia-ectrodactyly syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:358 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2726 biolink:NamedThing orphanet.nt ORPHA:99967 biolink:NamedThing|biolink:Disease Myxoid/round cell liposarcoma orphanet.nt owl:Class !/hgnc_id/HGNC:25430 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:967 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9449 biolink:NamedThing orphanet.nt ORPHA:356 biolink:NamedThing|biolink:Disease Gerstmann-Straussler-Scheinker syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:26038 biolink:NamedThing orphanet.nt ORPHA:319276 biolink:NamedThing|biolink:Disease Clear cell renal carcinoma orphanet.nt owl:Class !/hgnc_id/HGNC:89 biolink:NamedThing orphanet.nt ORPHA:42 biolink:NamedThing|biolink:Disease Medium chain acyl-CoA dehydrogenase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:8952 biolink:NamedThing orphanet.nt ORPHA:289586 biolink:NamedThing|biolink:Disease Exfoliative ichthyosis orphanet.nt owl:Class !/hgnc_id/HGNC:22986 biolink:NamedThing orphanet.nt ORPHA:438117 biolink:NamedThing|biolink:Disease Steel syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:29040 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2186 biolink:NamedThing orphanet.nt ORPHA:280234 biolink:NamedThing|biolink:Disease Null syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:3706 biolink:NamedThing orphanet.nt ORPHA:69665 biolink:NamedThing|biolink:Disease Intrahepatic 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biolink:NamedThing|biolink:Disease Congenital dyserythropoietic anemia type IV orphanet.nt owl:Class !/hgnc_id/HGNC:2899 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4335 biolink:NamedThing orphanet.nt ORPHA:35878 biolink:NamedThing|biolink:Disease Hyperinsulinism-hyperammonemia syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:6716 biolink:NamedThing orphanet.nt ORPHA:2899 biolink:NamedThing|biolink:Disease Brachyolmia-amelogenesis imperfecta syndrome orphanet.nt owl:Class ORPHA:169615 biolink:NamedThing|biolink:Disease Idiopathic central precocious puberty orphanet.nt owl:Class ORPHA:638 biolink:NamedThing|biolink:Disease Neurofibromatosis-Noonan syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:4389 biolink:NamedThing orphanet.nt ORPHA:592564 biolink:NamedThing|biolink:Disease GNAO1-related developmental delay-seizures-movement disorder spectrum orphanet.nt owl:Class !/hgnc_id/HGNC:2567 biolink:NamedThing orphanet.nt ORPHA:2750 biolink:NamedThing|biolink:Disease Orofaciodigital syndrome 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biolink:NamedThing orphanet.nt ORPHA:436242 biolink:NamedThing|biolink:Disease Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease orphanet.nt owl:Class !/hgnc_id/HGNC:35 biolink:NamedThing orphanet.nt ORPHA:2026 biolink:NamedThing|biolink:Disease Gingival fibromatosis-hypertrichosis syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:26193 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:24281 biolink:NamedThing orphanet.nt ORPHA:505237 biolink:NamedThing|biolink:Disease Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:29298 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7487 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7576 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4573 biolink:NamedThing orphanet.nt ORPHA:364028 biolink:NamedThing|biolink:Disease X-linked intellectual disability due to GRIA3 mutations orphanet.nt owl:Class !/hgnc_id/HGNC:3513 biolink:NamedThing orphanet.nt ORPHA:321 biolink:NamedThing|biolink:Disease Multiple osteochondromas orphanet.nt owl:Class !/hgnc_id/HGNC:3267 biolink:NamedThing orphanet.nt ORPHA:85282 biolink:NamedThing|biolink:Disease MEHMO syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:4883 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:494 biolink:NamedThing orphanet.nt ORPHA:356996 biolink:NamedThing|biolink:Disease ANK3-related intellectual disability-sleep disturbance syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:23159 biolink:NamedThing orphanet.nt ORPHA:79326 biolink:NamedThing|biolink:Disease ALG2-CDG orphanet.nt owl:Class !/hgnc_id/HGNC:4195 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7939 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2610 biolink:NamedThing orphanet.nt ORPHA:529831 biolink:NamedThing|biolink:Disease Letrozole toxicity orphanet.nt owl:Class !/hgnc_id/HGNC:9081 biolink:NamedThing orphanet.nt ORPHA:1900 biolink:NamedThing|biolink:Disease Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency 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intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:5950 biolink:NamedThing orphanet.nt ORPHA:451612 biolink:NamedThing|biolink:Disease Familial congenital nasolacrimal duct obstruction orphanet.nt owl:Class !/hgnc_id/HGNC:2216 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3296 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6158 biolink:NamedThing orphanet.nt ORPHA:79403 biolink:NamedThing|biolink:Disease Junctional epidermolysis bullosa with pyloric atresia orphanet.nt owl:Class !/hgnc_id/HGNC:4601 biolink:NamedThing orphanet.nt ORPHA:314629 biolink:NamedThing|biolink:Disease CLN11 disease orphanet.nt owl:Class !/hgnc_id/HGNC:6343 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:738 biolink:NamedThing orphanet.nt ORPHA:99803 biolink:NamedThing|biolink:Disease Haddad syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:7323 biolink:NamedThing orphanet.nt ORPHA:2901 biolink:NamedThing|biolink:Disease Neuralgic amyotrophy 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!/hgnc_id/HGNC:30497 biolink:NamedThing orphanet.nt ORPHA:166024 biolink:NamedThing|biolink:Disease Multiple epiphyseal dysplasia, Al-Gazali type orphanet.nt owl:Class !/hgnc_id/HGNC:2771 biolink:NamedThing orphanet.nt ORPHA:169467 biolink:NamedThing|biolink:Disease Recurrent Neisseria infections due to factor D deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:2188 biolink:NamedThing orphanet.nt ORPHA:536516 biolink:NamedThing|biolink:Disease Myopathic Ehlers-Danlos syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:4379 biolink:NamedThing orphanet.nt ORPHA:79483 biolink:NamedThing|biolink:Disease Phakomatosis cesioflammea orphanet.nt owl:Class !/hgnc_id/HGNC:2398 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3585 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:30074 biolink:NamedThing orphanet.nt ORPHA:447896 biolink:NamedThing|biolink:Disease Tremor-ataxia-central hypomyelination syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:28672 biolink:NamedThing orphanet.nt ORPHA:379 biolink:NamedThing|biolink:Disease Chronic granulomatous disease orphanet.nt owl:Class !/hgnc_id/HGNC:6139 biolink:NamedThing orphanet.nt ORPHA:306504 biolink:NamedThing|biolink:Disease Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:3024 biolink:NamedThing orphanet.nt ORPHA:862 biolink:NamedThing|biolink:Disease NON RARE IN EUROPE: Hereditary essential tremor orphanet.nt owl:Class !/hgnc_id/HGNC:4042 biolink:NamedThing orphanet.nt ORPHA:891 biolink:NamedThing|biolink:Disease Familial exudative vitreoretinopathy orphanet.nt owl:Class !/hgnc_id/HGNC:8979 biolink:NamedThing orphanet.nt ORPHA:397596 biolink:NamedThing|biolink:Disease Activated PI3K-delta syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:28912 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:26169 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:1966 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:30224 biolink:NamedThing orphanet.nt ORPHA:572543 biolink:NamedThing|biolink:Disease RFVT2-related riboflavin transporter deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:7448 biolink:NamedThing orphanet.nt ORPHA:456328 biolink:NamedThing|biolink:Disease X-linked myotubular myopathy-abnormal genitalia syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:21666 biolink:NamedThing orphanet.nt ORPHA:171700 biolink:NamedThing|biolink:Disease Diffuse panbronchiolitis orphanet.nt owl:Class !/hgnc_id/HGNC:28209 biolink:NamedThing orphanet.nt ORPHA:397615 biolink:NamedThing|biolink:Disease Obesity due to CEP19 deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:9606 biolink:NamedThing orphanet.nt ORPHA:189466 biolink:NamedThing|biolink:Disease Familial isolated hypoparathyroidism due to impaired PTH secretion orphanet.nt owl:Class !/hgnc_id/HGNC:6677 biolink:NamedThing orphanet.nt ORPHA:309015 biolink:NamedThing|biolink:Disease Familial lipoprotein lipase deficiency orphanet.nt owl:Class ORPHA:319298 biolink:NamedThing|biolink:Disease Papillary renal cell 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biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4400 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:21675 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2747 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:30836 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:8109 biolink:NamedThing orphanet.nt ORPHA:544488 biolink:NamedThing|biolink:Disease Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:2084 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:28072 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2433 biolink:NamedThing orphanet.nt ORPHA:313808 biolink:NamedThing|biolink:Disease Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia orphanet.nt owl:Class !/hgnc_id/HGNC:4198 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9005 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3097 biolink:NamedThing orphanet.nt ORPHA:178400 biolink:NamedThing|biolink:Disease Distal myopathy with anterior 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biolink:NamedThing orphanet.nt ORPHA:66629 biolink:NamedThing|biolink:Disease Goldberg-Shprintzen megacolon syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:2711 biolink:NamedThing orphanet.nt ORPHA:178509 biolink:NamedThing|biolink:Disease Perry syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:4800 biolink:NamedThing orphanet.nt ORPHA:391428 biolink:NamedThing|biolink:Disease HSD10 disease, infantile type orphanet.nt owl:Class !/hgnc_id/HGNC:4241 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9220 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3233 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9964 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:51 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3571 biolink:NamedThing orphanet.nt ORPHA:98978 biolink:NamedThing|biolink:Disease Axenfeld anomaly orphanet.nt owl:Class !/hgnc_id/HGNC:583 biolink:NamedThing orphanet.nt ORPHA:873 biolink:NamedThing|biolink:Disease Desmoid tumor orphanet.nt owl:Class ORPHA:2343 biolink:NamedThing|biolink:Disease Isolated cloverleaf skull syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:6156 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:952 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3663 biolink:NamedThing orphanet.nt ORPHA:915 biolink:NamedThing|biolink:Disease Aarskog-Scott syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:9302 biolink:NamedThing orphanet.nt ORPHA:457284 biolink:NamedThing|biolink:Disease Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:2895 biolink:NamedThing orphanet.nt ORPHA:2133 biolink:NamedThing|biolink:Disease Hemoglobin E disease orphanet.nt owl:Class !/hgnc_id/HGNC:6173 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:24595 biolink:NamedThing orphanet.nt ORPHA:289 biolink:NamedThing|biolink:Disease Ellis Van Creveld syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:6413 biolink:NamedThing orphanet.nt ORPHA:512103 biolink:NamedThing|biolink:Disease Autosomal recessive epidermolytic ichthyosis 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!/hgnc_id/HGNC:21686 biolink:NamedThing orphanet.nt ORPHA:85136 biolink:NamedThing|biolink:Disease Cystic leukoencephalopathy without megalencephaly orphanet.nt owl:Class ORPHA:69087 biolink:NamedThing|biolink:Disease Naegeli-Franceschetti-Jadassohn syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:3236 biolink:NamedThing orphanet.nt ORPHA:294023 biolink:NamedThing|biolink:Disease Neonatal inflammatory skin and bowel disease orphanet.nt owl:Class !/hgnc_id/HGNC:2379 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:5286 biolink:NamedThing orphanet.nt ORPHA:498251 biolink:NamedThing|biolink:Disease Menstrual cycle-dependent periodic fever orphanet.nt owl:Class !/hgnc_id/HGNC:30740 biolink:NamedThing orphanet.nt ORPHA:420733 biolink:NamedThing|biolink:Disease Combined oxidative phosphorylation defect type 21 orphanet.nt owl:Class !/hgnc_id/HGNC:4922 biolink:NamedThing orphanet.nt ORPHA:99953 biolink:NamedThing|biolink:Disease Charcot-Marie-Tooth disease type 4G orphanet.nt owl:Class !/hgnc_id/HGNC:4315 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3482 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:24565 biolink:NamedThing orphanet.nt ORPHA:363965 biolink:NamedThing|biolink:Disease Koolen-De Vries syndrome due to a point mutation orphanet.nt owl:Class !/hgnc_id/HGNC:4892 biolink:NamedThing orphanet.nt ORPHA:56 biolink:NamedThing|biolink:Disease Alkaptonuria orphanet.nt owl:Class !/hgnc_id/HGNC:8653 biolink:NamedThing orphanet.nt ORPHA:35 biolink:NamedThing|biolink:Disease Propionic acidemia orphanet.nt owl:Class !/hgnc_id/HGNC:6470 biolink:NamedThing orphanet.nt ORPHA:306617 biolink:NamedThing|biolink:Disease X-linked complicated spastic paraplegia type 1 orphanet.nt owl:Class !/hgnc_id/HGNC:4180 biolink:NamedThing orphanet.nt ORPHA:308684 biolink:NamedThing|biolink:Disease Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form orphanet.nt owl:Class !/hgnc_id/HGNC:2033 biolink:NamedThing orphanet.nt ORPHA:528105 biolink:NamedThing|biolink:Disease Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:8856 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7551 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9588 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:24684 biolink:NamedThing orphanet.nt ORPHA:90308 biolink:NamedThing|biolink:Disease Klippel-Trénaunay syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:2364 biolink:NamedThing orphanet.nt ORPHA:930 biolink:NamedThing|biolink:Disease Idiopathic achalasia orphanet.nt owl:Class !/hgnc_id/HGNC:6259 biolink:NamedThing orphanet.nt ORPHA:91496 biolink:NamedThing|biolink:Disease Snowflake vitreoretinal degeneration orphanet.nt owl:Class !/hgnc_id/HGNC:568 biolink:NamedThing orphanet.nt ORPHA:284804 biolink:NamedThing|biolink:Disease Ocular albinism orphanet.nt owl:Class !/hgnc_id/HGNC:4279 biolink:NamedThing orphanet.nt ORPHA:308473 biolink:NamedThing|biolink:Disease Erythrocyte galactose epimerase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:28625 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9177 biolink:NamedThing orphanet.nt ORPHA:352712 biolink:NamedThing|biolink:Disease Facial dysmorphism-immunodeficiency-livedo-short stature syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:25535 biolink:NamedThing orphanet.nt ORPHA:36 biolink:NamedThing|biolink:Disease Acrocallosal syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:7739 biolink:NamedThing orphanet.nt ORPHA:99939 biolink:NamedThing|biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2E orphanet.nt owl:Class !/hgnc_id/HGNC:37276 biolink:NamedThing orphanet.nt ORPHA:352479 biolink:NamedThing|biolink:Disease ISPD-related limb-girdle muscular dystrophy R20 orphanet.nt owl:Class !/hgnc_id/HGNC:8609 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4451 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29622 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9023 biolink:NamedThing orphanet.nt ORPHA:158668 biolink:NamedThing|biolink:Disease Ectodermal dysplasia-skin fragility syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:2022 biolink:NamedThing orphanet.nt ORPHA:485350 biolink:NamedThing|biolink:Disease CLCN4-related X-linked intellectual disability syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:29937 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3791 biolink:NamedThing orphanet.nt ORPHA:217382 biolink:NamedThing|biolink:Disease Neurodegenerative syndrome due to cerebral folate transport deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:3010 biolink:NamedThing orphanet.nt ORPHA:2514 biolink:NamedThing|biolink:Disease Autosomal dominant primary microcephaly orphanet.nt owl:Class !/hgnc_id/HGNC:9388 biolink:NamedThing orphanet.nt ORPHA:1359 biolink:NamedThing|biolink:Disease Carney complex orphanet.nt owl:Class !/hgnc_id/HGNC:20087 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:8574 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3749 biolink:NamedThing orphanet.nt ORPHA:2308 biolink:NamedThing|biolink:Disease Jacobsen syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:25681 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3542 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:694 biolink:NamedThing orphanet.nt ORPHA:99853 biolink:NamedThing|biolink:Disease Ovarioleukodystrophy orphanet.nt owl:Class !/hgnc_id/HGNC:2207 biolink:NamedThing orphanet.nt ORPHA:1018 biolink:NamedThing|biolink:Disease X-linked Alport syndrome-diffuse leiomyomatosis orphanet.nt owl:Class ORPHA:90652 biolink:NamedThing|biolink:Disease Otopalatodigital syndrome type 2 orphanet.nt owl:Class !/hgnc_id/HGNC:4678 biolink:NamedThing orphanet.nt ORPHA:75377 biolink:NamedThing|biolink:Disease Central areolar choroidal dystrophy orphanet.nt owl:Class !/hgnc_id/HGNC:8853 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9454 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2896 biolink:NamedThing orphanet.nt ORPHA:79244 biolink:NamedThing|biolink:Disease Pyruvate dehydrogenase E2 deficiency orphanet.nt owl:Class ORPHA:3338 biolink:NamedThing|biolink:Disease Toriello-Carey syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:8522 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3631 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:26071 biolink:NamedThing orphanet.nt ORPHA:101007 biolink:NamedThing|biolink:Disease Autosomal recessive spastic paraplegia type 27 orphanet.nt owl:Class !/hgnc_id/HGNC:19977 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:25186 biolink:NamedThing orphanet.nt ORPHA:98773 biolink:NamedThing|biolink:Disease Spinocerebellar ataxia type 21 orphanet.nt owl:Class ORPHA:95494 biolink:NamedThing|biolink:Disease Combined pituitary hormone deficiencies, genetic forms orphanet.nt owl:Class !/hgnc_id/HGNC:914 biolink:NamedThing orphanet.nt ORPHA:314652 biolink:NamedThing|biolink:Disease Variant ABeta2M amyloidosis orphanet.nt owl:Class !/hgnc_id/HGNC:464 biolink:NamedThing orphanet.nt ORPHA:2856 biolink:NamedThing|biolink:Disease Persistent Müllerian duct syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:3806 biolink:NamedThing orphanet.nt ORPHA:1226 biolink:NamedThing|biolink:Disease Bamforth-Lazarus syndrome orphanet.nt owl:Class ORPHA:1114 biolink:NamedThing|biolink:Disease Aplasia cutis congenita orphanet.nt owl:Class !/hgnc_id/HGNC:9870 biolink:NamedThing orphanet.nt ORPHA:438114 biolink:NamedThing|biolink:Disease RARS-related autosomal recessive hypomyelinating leukodystrophy orphanet.nt owl:Class !/hgnc_id/HGNC:6080 biolink:NamedThing orphanet.nt ORPHA:2746 biolink:NamedThing|biolink:Disease Opsismodysplasia orphanet.nt owl:Class ORPHA:168569 biolink:NamedThing|biolink:Disease H syndrome orphanet.nt owl:Class ORPHA:2021 biolink:NamedThing|biolink:Disease Fibrochondrogenesis orphanet.nt owl:Class !/hgnc_id/HGNC:2586 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:8142 biolink:NamedThing orphanet.nt ORPHA:67047 biolink:NamedThing|biolink:Disease 3-methylglutaconic aciduria type 3 orphanet.nt owl:Class !/hgnc_id/HGNC:6909 biolink:NamedThing orphanet.nt ORPHA:156728 biolink:NamedThing|biolink:Disease Spondyloepimetaphyseal dysplasia, matrilin-3 type orphanet.nt owl:Class !/hgnc_id/HGNC:2514 biolink:NamedThing orphanet.nt ORPHA:33402 biolink:NamedThing|biolink:Disease Pediatric hepatocellular carcinoma orphanet.nt owl:Class !/hgnc_id/HGNC:25018 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7662 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:22965 biolink:NamedThing orphanet.nt ORPHA:248340 biolink:NamedThing|biolink:Disease Isolated delta-storage pool disease orphanet.nt owl:Class !/hgnc_id/HGNC:8636 biolink:NamedThing orphanet.nt ORPHA:353320 biolink:NamedThing|biolink:Disease Pyruvate carboxylase deficiency, benign type orphanet.nt owl:Class !/hgnc_id/HGNC:6617 biolink:NamedThing orphanet.nt ORPHA:139396 biolink:NamedThing|biolink:Disease X-linked cerebral adrenoleukodystrophy orphanet.nt owl:Class !/hgnc_id/HGNC:2201 biolink:NamedThing orphanet.nt ORPHA:86 biolink:NamedThing|biolink:Disease Familial abdominal aortic aneurysm 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microdeletion orphanet.nt owl:Class !/hgnc_id/HGNC:3438 biolink:NamedThing orphanet.nt ORPHA:90322 biolink:NamedThing|biolink:Disease Cockayne syndrome type 2 orphanet.nt owl:Class !/hgnc_id/HGNC:9490 biolink:NamedThing orphanet.nt ORPHA:168601 biolink:NamedThing|biolink:Disease Congenital enteropathy due to enteropeptidase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:3498 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:1961 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:25507 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7325 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6388 biolink:NamedThing orphanet.nt ORPHA:2526 biolink:NamedThing|biolink:Disease Microcephaly-lymphedema-chorioretinopathy syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:26877 biolink:NamedThing orphanet.nt ORPHA:3255 biolink:NamedThing|biolink:Disease Filippi syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:31527 biolink:NamedThing orphanet.nt ORPHA:163649 biolink:NamedThing|biolink:Disease Spondyloepiphyseal dysplasia, 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biolink:NamedThing orphanet.nt ORPHA:300 biolink:NamedThing|biolink:Disease Bifunctional enzyme deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:30791 biolink:NamedThing orphanet.nt ORPHA:98967 biolink:NamedThing|biolink:Disease Schnyder corneal dystrophy orphanet.nt owl:Class !/hgnc_id/HGNC:8516 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2389 biolink:NamedThing orphanet.nt ORPHA:158766 biolink:NamedThing|biolink:Disease Typical urticaria pigmentosa orphanet.nt owl:Class !/hgnc_id/HGNC:4170 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9872 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:886 biolink:NamedThing orphanet.nt ORPHA:231401 biolink:NamedThing|biolink:Disease Alpha-thalassemia-myelodysplastic syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:3003 biolink:NamedThing orphanet.nt ORPHA:459061 biolink:NamedThing|biolink:Disease Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:32669 biolink:NamedThing 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biolink:NamedThing|biolink:Disease Autosomal dominant hyperinsulinism due to Kir6.2 deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:7132 biolink:NamedThing orphanet.nt ORPHA:402017 biolink:NamedThing|biolink:Disease Acute myeloid leukemia with t(9;11)(p22;q23) orphanet.nt owl:Class ORPHA:101049 biolink:NamedThing|biolink:Disease Familial hypocalciuric hypercalcemia type 2 orphanet.nt owl:Class ORPHA:319698 biolink:NamedThing|biolink:Disease NON RARE IN EUROPE: Partial color blindness, deutan type orphanet.nt owl:Class !/hgnc_id/HGNC:9173 biolink:NamedThing orphanet.nt ORPHA:85453 biolink:NamedThing|biolink:Disease X-linked reticulate pigmentary disorder orphanet.nt owl:Class !/hgnc_id/HGNC:25519 biolink:NamedThing orphanet.nt ORPHA:284289 biolink:NamedThing|biolink:Disease Adult-onset autosomal recessive cerebellar ataxia orphanet.nt owl:Class !/hgnc_id/HGNC:3052 biolink:NamedThing orphanet.nt ORPHA:50942 biolink:NamedThing|biolink:Disease Striate palmoplantar keratoderma orphanet.nt owl:Class !/hgnc_id/HGNC:2092 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4978 biolink:NamedThing orphanet.nt ORPHA:527468 biolink:NamedThing|biolink:Disease Diaphragmatic hernia-short bowel-asplenia syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:969 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4298 biolink:NamedThing orphanet.nt ORPHA:79255 biolink:NamedThing|biolink:Disease GM1 gangliosidosis type 1 orphanet.nt owl:Class !/hgnc_id/HGNC:904 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:27030 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:21732 biolink:NamedThing orphanet.nt ORPHA:2176 biolink:NamedThing|biolink:Disease Infantile systemic hyalinosis orphanet.nt owl:Class !/hgnc_id/HGNC:9585 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:932 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7897 biolink:NamedThing orphanet.nt ORPHA:703 biolink:NamedThing|biolink:Disease Bullous pemphigoid orphanet.nt owl:Class ORPHA:251589 biolink:NamedThing|biolink:Disease Anaplastic astrocytoma 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ORPHA:454821 biolink:NamedThing|biolink:Disease Pleomorphic salivary gland adenoma orphanet.nt owl:Class !/hgnc_id/HGNC:8977 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:5144 biolink:NamedThing orphanet.nt ORPHA:99657 biolink:NamedThing|biolink:Disease Primary dystonia, DYT2 type orphanet.nt owl:Class !/hgnc_id/HGNC:6717 biolink:NamedThing orphanet.nt ORPHA:98896 biolink:NamedThing|biolink:Disease Duchenne muscular dystrophy orphanet.nt owl:Class !/hgnc_id/HGNC:9217 biolink:NamedThing orphanet.nt ORPHA:1435 biolink:NamedThing|biolink:Disease Xq21 microdeletion syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:7989 biolink:NamedThing orphanet.nt ORPHA:626 biolink:NamedThing|biolink:Disease Large congenital melanocytic nevus orphanet.nt owl:Class ORPHA:257 biolink:NamedThing|biolink:Disease Epidermolysis bullosa simplex with muscular dystrophy orphanet.nt owl:Class !/hgnc_id/HGNC:29634 biolink:NamedThing orphanet.nt ORPHA:439212 biolink:NamedThing|biolink:Disease Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome orphanet.nt owl:Class ORPHA:244242 biolink:NamedThing|biolink:Disease HELLP syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:5382 biolink:NamedThing orphanet.nt ORPHA:163634 biolink:NamedThing|biolink:Disease Maffucci syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:6953 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:5102 biolink:NamedThing orphanet.nt ORPHA:2438 biolink:NamedThing|biolink:Disease Hand-foot-genital syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:23801 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3551 biolink:NamedThing orphanet.nt ORPHA:169796 biolink:NamedThing|biolink:Disease Moderate hemophilia B orphanet.nt owl:Class !/hgnc_id/HGNC:21679 biolink:NamedThing orphanet.nt ORPHA:85112 biolink:NamedThing|biolink:Disease Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:8864 biolink:NamedThing orphanet.nt ORPHA:2966 biolink:NamedThing|biolink:Disease Properdin deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:3750 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4283 biolink:NamedThing orphanet.nt ORPHA:101075 biolink:NamedThing|biolink:Disease X-linked Charcot-Marie-Tooth disease type 1 orphanet.nt owl:Class !/hgnc_id/HGNC:5261 biolink:NamedThing orphanet.nt ORPHA:280288 biolink:NamedThing|biolink:Disease Pelizaeus-Merzbacher-like disease due to HSPD1 mutation orphanet.nt owl:Class !/hgnc_id/HGNC:2197 biolink:NamedThing orphanet.nt ORPHA:1310 biolink:NamedThing|biolink:Disease Caffey disease orphanet.nt owl:Class !/hgnc_id/HGNC:29205 biolink:NamedThing orphanet.nt ORPHA:1143 biolink:NamedThing|biolink:Disease Neurogenic arthrogryposis multiplex congenita orphanet.nt owl:Class !/hgnc_id/HGNC:2979 biolink:NamedThing orphanet.nt ORPHA:269 biolink:NamedThing|biolink:Disease Facioscapulohumeral dystrophy orphanet.nt owl:Class !/hgnc_id/HGNC:7461 biolink:NamedThing orphanet.nt ORPHA:137608 biolink:NamedThing|biolink:Disease Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:8940 biolink:NamedThing orphanet.nt ORPHA:773 biolink:NamedThing|biolink:Disease Refsum disease orphanet.nt owl:Class !/hgnc_id/HGNC:28887 biolink:NamedThing orphanet.nt ORPHA:166119 biolink:NamedThing|biolink:Disease Isolated osteopoikilosis orphanet.nt owl:Class !/hgnc_id/HGNC:29605 biolink:NamedThing orphanet.nt ORPHA:391366 biolink:NamedThing|biolink:Disease Growth retardation-mild developmental delay-chronic hepatitis syndrome orphanet.nt owl:Class ORPHA:317 biolink:NamedThing|biolink:Disease Erythrokeratodermia variabilis orphanet.nt owl:Class !/hgnc_id/HGNC:3344 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:990 biolink:NamedThing orphanet.nt ORPHA:3237 biolink:NamedThing|biolink:Disease Multiple synostoses syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:29 biolink:NamedThing orphanet.nt ORPHA:31150 biolink:NamedThing|biolink:Disease Tangier disease orphanet.nt owl:Class !/hgnc_id/HGNC:6263 biolink:NamedThing orphanet.nt ORPHA:2229 biolink:NamedThing|biolink:Disease Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:8727 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:92 biolink:NamedThing orphanet.nt ORPHA:26793 biolink:NamedThing|biolink:Disease Very long chain acyl-CoA dehydrogenase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:30718 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4851 biolink:NamedThing orphanet.nt ORPHA:248111 biolink:NamedThing|biolink:Disease Juvenile Huntington disease orphanet.nt owl:Class !/hgnc_id/HGNC:854 biolink:NamedThing orphanet.nt ORPHA:3473 biolink:NamedThing|biolink:Disease Zimmermann-Laband syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:20330 biolink:NamedThing orphanet.nt ORPHA:281201 biolink:NamedThing|biolink:Disease Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome 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biolink:NamedThing|biolink:Disease Paternal uniparental disomy of chromosome 6 orphanet.nt owl:Class !/hgnc_id/HGNC:23791 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:795 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3767 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6294 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9045 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4392 biolink:NamedThing orphanet.nt ORPHA:189427 biolink:NamedThing|biolink:Disease Cushing syndrome due to macronodular adrenal hyperplasia orphanet.nt owl:Class ORPHA:75497 biolink:NamedThing|biolink:Disease X-linked Ehlers-Danlos syndrome orphanet.nt owl:Class ORPHA:99854 biolink:NamedThing|biolink:Disease Cree leukoencephalopathy orphanet.nt owl:Class ORPHA:268173 biolink:NamedThing|biolink:Disease Intermittent maple syrup urine disease orphanet.nt owl:Class !/hgnc_id/HGNC:6742 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:20193 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:449 biolink:NamedThing orphanet.nt ORPHA:391474 biolink:NamedThing|biolink:Disease Frontorhiny orphanet.nt owl:Class !/hgnc_id/HGNC:3495 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4419 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6694 biolink:NamedThing orphanet.nt ORPHA:2143 biolink:NamedThing|biolink:Disease Donnai-Barrow syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:3702 biolink:NamedThing orphanet.nt ORPHA:178461 biolink:NamedThing|biolink:Disease X-linked myopathy with postural muscle atrophy orphanet.nt owl:Class !/hgnc_id/HGNC:7526 biolink:NamedThing orphanet.nt ORPHA:289916 biolink:NamedThing|biolink:Disease Vitamin B12-unresponsive methylmalonic acidemia type mut0 orphanet.nt owl:Class !/hgnc_id/HGNC:393 biolink:NamedThing orphanet.nt ORPHA:99802 biolink:NamedThing|biolink:Disease Hemimegalencephaly orphanet.nt owl:Class !/hgnc_id/HGNC:6240 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3178 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6891 biolink:NamedThing orphanet.nt ORPHA:2505 biolink:NamedThing|biolink:Disease Multiple benign circumferential skin creases on limbs orphanet.nt owl:Class !/hgnc_id/HGNC:29186 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6836 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4311 biolink:NamedThing orphanet.nt ORPHA:33574 biolink:NamedThing|biolink:Disease Glutamate-cysteine ligase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:445 biolink:NamedThing orphanet.nt ORPHA:357043 biolink:NamedThing|biolink:Disease Amyotrophic lateral sclerosis type 4 orphanet.nt owl:Class !/hgnc_id/HGNC:327 biolink:NamedThing orphanet.nt ORPHA:309803 biolink:NamedThing|biolink:Disease Rhizomelic chondrodysplasia punctata type 3 orphanet.nt owl:Class !/hgnc_id/HGNC:7328 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2557 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3686 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6218 biolink:NamedThing orphanet.nt ORPHA:79302 biolink:NamedThing|biolink:Disease Congenital bile acid synthesis defect type 3 orphanet.nt owl:Class !/hgnc_id/HGNC:8840 biolink:NamedThing orphanet.nt ORPHA:742 biolink:NamedThing|biolink:Disease Prolidase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:5013 biolink:NamedThing orphanet.nt ORPHA:562509 biolink:NamedThing|biolink:Disease Heme oxygenase-1 deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:9936 biolink:NamedThing orphanet.nt ORPHA:88630 biolink:NamedThing|biolink:Disease Terminal osseous dysplasia-pigmentary defects syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:9863 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9082 biolink:NamedThing orphanet.nt ORPHA:85164 biolink:NamedThing|biolink:Disease Camptodactyly-tall stature-scoliosis-hearing loss syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:7190 biolink:NamedThing orphanet.nt ORPHA:308386 biolink:NamedThing|biolink:Disease Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A orphanet.nt owl:Class !/hgnc_id/HGNC:801 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7230 biolink:NamedThing orphanet.nt ORPHA:2128 biolink:NamedThing|biolink:Disease Isolated hemihyperplasia orphanet.nt owl:Class !/hgnc_id/HGNC:7610 biolink:NamedThing orphanet.nt ORPHA:98977 biolink:NamedThing|biolink:Disease Juvenile glaucoma orphanet.nt owl:Class ORPHA:98989 biolink:NamedThing|biolink:Disease Cerulean cataract orphanet.nt owl:Class !/hgnc_id/HGNC:26006 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6283 biolink:NamedThing orphanet.nt ORPHA:166108 biolink:NamedThing|biolink:Disease Intellectual disability, Birk-Barel type orphanet.nt owl:Class !/hgnc_id/HGNC:6522 biolink:NamedThing orphanet.nt ORPHA:79292 biolink:NamedThing|biolink:Disease Fish-eye disease orphanet.nt owl:Class !/hgnc_id/HGNC:32940 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:30242 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6546 biolink:NamedThing orphanet.nt ORPHA:435934 biolink:NamedThing|biolink:Disease COG2-CDG orphanet.nt owl:Class !/hgnc_id/HGNC:32207 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:24912 biolink:NamedThing 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biolink:NamedThing|biolink:Disease Neuroendocrine tumor of stomach orphanet.nt owl:Class !/hgnc_id/HGNC:28027 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2689 biolink:NamedThing orphanet.nt ORPHA:230 biolink:NamedThing|biolink:Disease Dopamine beta-hydroxylase deficiency orphanet.nt owl:Class ORPHA:79312 biolink:NamedThing|biolink:Disease Vitamin B12-unresponsive methylmalonic acidemia type mut- orphanet.nt owl:Class !/hgnc_id/HGNC:29086 biolink:NamedThing orphanet.nt ORPHA:329481 biolink:NamedThing|biolink:Disease Lipoprotein glomerulopathy orphanet.nt owl:Class ORPHA:286 biolink:NamedThing|biolink:Disease Vascular Ehlers-Danlos syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:2858 biolink:NamedThing orphanet.nt ORPHA:279934 biolink:NamedThing|biolink:Disease Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:30500 biolink:NamedThing orphanet.nt ORPHA:98810 biolink:NamedThing|biolink:Disease Paroxysmal non-kinesigenic 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!/hgnc_id/HGNC:9829 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:31673 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:24537 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:28862 biolink:NamedThing orphanet.nt ORPHA:329802 biolink:NamedThing|biolink:Disease 5p13 microduplication syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:4382 biolink:NamedThing orphanet.nt ORPHA:1063 biolink:NamedThing|biolink:Disease Tufted angioma orphanet.nt owl:Class !/hgnc_id/HGNC:2340 biolink:NamedThing orphanet.nt ORPHA:99989 biolink:NamedThing|biolink:Disease Intermediate DEND syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:21699 biolink:NamedThing orphanet.nt ORPHA:251604 biolink:NamedThing|biolink:Disease Gemistocytic astrocytoma orphanet.nt owl:Class !/hgnc_id/HGNC:25897 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6819 biolink:NamedThing orphanet.nt ORPHA:397964 biolink:NamedThing|biolink:Disease Combined immunodeficiency due to MALT1 deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:4688 biolink:NamedThing 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biolink:NamedThing|biolink:Disease Woolly hair-palmoplantar keratoderma syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:8021 biolink:NamedThing orphanet.nt ORPHA:289601 biolink:NamedThing|biolink:Disease Hereditary arterial and articular multiple calcification syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:9004 biolink:NamedThing orphanet.nt ORPHA:1275 biolink:NamedThing|biolink:Disease Brachydactyly-elbow wrist dysplasia syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:29059 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:19711 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:21071 biolink:NamedThing orphanet.nt ORPHA:497764 biolink:NamedThing|biolink:Disease Spinocerebellar ataxia type 43 orphanet.nt owl:Class !/hgnc_id/HGNC:21208 biolink:NamedThing orphanet.nt ORPHA:513456 biolink:NamedThing|biolink:Disease Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:39436 biolink:NamedThing orphanet.nt ORPHA:306734 biolink:NamedThing|biolink:Disease Primary dystonia, DYT21 type orphanet.nt owl:Class !/hgnc_id/HGNC:5326 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4065 biolink:NamedThing orphanet.nt ORPHA:308552 biolink:NamedThing|biolink:Disease Glycogen storage disease due to acid maltase deficiency, infantile onset orphanet.nt owl:Class !/hgnc_id/HGNC:6199 biolink:NamedThing orphanet.nt ORPHA:706 biolink:NamedThing|biolink:Disease NON RARE IN EUROPE: Patent arterial duct orphanet.nt owl:Class !/hgnc_id/HGNC:4172 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:5391 biolink:NamedThing orphanet.nt ORPHA:93476 biolink:NamedThing|biolink:Disease Hurler-Scheie syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:9118 biolink:NamedThing orphanet.nt ORPHA:101081 biolink:NamedThing|biolink:Disease Charcot-Marie-Tooth disease type 1A orphanet.nt owl:Class !/hgnc_id/HGNC:2396 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9237 biolink:NamedThing orphanet.nt ORPHA:308670 biolink:NamedThing|biolink:Disease Glycogen 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ORPHA:308442 biolink:NamedThing|biolink:Disease Vitamin B12-responsive methylmalonic acidemia, type cblDv2 orphanet.nt owl:Class !/hgnc_id/HGNC:7225 biolink:NamedThing orphanet.nt ORPHA:324585 biolink:NamedThing|biolink:Disease Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain orphanet.nt owl:Class !/hgnc_id/HGNC:7179 biolink:NamedThing orphanet.nt ORPHA:289307 biolink:NamedThing|biolink:Disease Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:6243 biolink:NamedThing orphanet.nt ORPHA:99938 biolink:NamedThing|biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2D orphanet.nt owl:Class !/hgnc_id/HGNC:9360 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:31582 biolink:NamedThing orphanet.nt ORPHA:488197 biolink:NamedThing|biolink:Disease Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:19701 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biolink:NamedThing|biolink:Disease Metaphyseal anadysplasia orphanet.nt owl:Class !/hgnc_id/HGNC:9768 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9848 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9509 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:30100 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2597 biolink:NamedThing orphanet.nt ORPHA:2253 biolink:NamedThing|biolink:Disease Foveal hypoplasia-presenile cataract syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:7627 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:438 biolink:NamedThing orphanet.nt ORPHA:247651 biolink:NamedThing|biolink:Disease Infantile hypophosphatasia orphanet.nt owl:Class !/hgnc_id/HGNC:2439 biolink:NamedThing orphanet.nt ORPHA:98824 biolink:NamedThing|biolink:Disease Atypical chronic myeloid leukemia orphanet.nt owl:Class ORPHA:139474 biolink:NamedThing|biolink:Disease 17q11.2 microduplication syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:7680 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:20862 biolink:NamedThing 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Methylmalonic acidemia with homocystinuria, type cblC orphanet.nt owl:Class !/hgnc_id/HGNC:20581 biolink:NamedThing orphanet.nt ORPHA:293925 biolink:NamedThing|biolink:Disease Lethal occipital encephalocele-skeletal dysplasia syndrome orphanet.nt owl:Class ORPHA:352587 biolink:NamedThing|biolink:Disease Focal epilepsy-intellectual disability-cerebro-cerebellar malformation orphanet.nt owl:Class !/hgnc_id/HGNC:4223 biolink:NamedThing orphanet.nt ORPHA:275534 biolink:NamedThing|biolink:Disease Myostatin-related muscle hypertrophy orphanet.nt owl:Class !/hgnc_id/HGNC:9280 biolink:NamedThing orphanet.nt ORPHA:79473 biolink:NamedThing|biolink:Disease Porphyria variegata orphanet.nt owl:Class !/hgnc_id/HGNC:3467 biolink:NamedThing orphanet.nt ORPHA:785 biolink:NamedThing|biolink:Disease Estrogen resistance syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:9255 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7717 biolink:NamedThing orphanet.nt ORPHA:220407 biolink:NamedThing|biolink:Disease Limited 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biolink:NamedThing orphanet.nt ORPHA:217031 biolink:NamedThing|biolink:Disease NON RARE IN EUROPE: Obesity due to MC3R deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:6530 biolink:NamedThing orphanet.nt ORPHA:53690 biolink:NamedThing|biolink:Disease Congenital lactase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:6770 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4855 biolink:NamedThing orphanet.nt ORPHA:79151 biolink:NamedThing|biolink:Disease Acrokeratosis verruciformis of Hopf orphanet.nt owl:Class !/hgnc_id/HGNC:6251 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2394 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3620 biolink:NamedThing orphanet.nt ORPHA:464370 biolink:NamedThing|biolink:Disease Neonatal alloimmune neutropenia orphanet.nt owl:Class !/hgnc_id/HGNC:8877 biolink:NamedThing orphanet.nt ORPHA:371 biolink:NamedThing|biolink:Disease Glycogen storage disease due to muscle phosphofructokinase deficiency orphanet.nt owl:Class ORPHA:137678 biolink:NamedThing|biolink:Disease Spondyloepiphyseal dysplasia with metatarsal shortening orphanet.nt owl:Class !/hgnc_id/HGNC:4879 biolink:NamedThing orphanet.nt ORPHA:309155 biolink:NamedThing|biolink:Disease Sandhoff disease, infantile form orphanet.nt owl:Class !/hgnc_id/HGNC:4247 biolink:NamedThing orphanet.nt ORPHA:98434 biolink:NamedThing|biolink:Disease Hereditary combined deficiency of vitamin K-dependent clotting factors orphanet.nt owl:Class !/hgnc_id/HGNC:23352 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3437 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3811 biolink:NamedThing orphanet.nt ORPHA:261144 biolink:NamedThing|biolink:Disease FOXG1 syndrome due to 14q12 microdeletion orphanet.nt owl:Class !/hgnc_id/HGNC:2956 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3662 biolink:NamedThing orphanet.nt ORPHA:98880 biolink:NamedThing|biolink:Disease Familial afibrinogenemia orphanet.nt owl:Class !/hgnc_id/HGNC:714 biolink:NamedThing orphanet.nt ORPHA:276212 biolink:NamedThing|biolink:Disease Mucopolysaccharidosis type 6, rapidly progressing orphanet.nt owl:Class !/hgnc_id/HGNC:7133 biolink:NamedThing orphanet.nt ORPHA:589856 biolink:NamedThing|biolink:Disease Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:40050 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6255 biolink:NamedThing orphanet.nt ORPHA:466722 biolink:NamedThing|biolink:Disease Autosomal recessive spastic paraplegia type 77 orphanet.nt owl:Class !/hgnc_id/HGNC:2494 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:32781 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9817 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4267 biolink:NamedThing orphanet.nt ORPHA:314811 biolink:NamedThing|biolink:Disease Short stature due to GHSR deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:25676 biolink:NamedThing orphanet.nt ORPHA:2078 biolink:NamedThing|biolink:Disease Geroderma osteodysplastica orphanet.nt owl:Class !/hgnc_id/HGNC:2852 biolink:NamedThing orphanet.nt ORPHA:357008 biolink:NamedThing|biolink:Disease Hemolytic uremic syndrome with DGKE deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:7419 biolink:NamedThing orphanet.nt ORPHA:498481 biolink:NamedThing|biolink:Disease LRP5-related primary osteoporosis orphanet.nt owl:Class !/hgnc_id/HGNC:2035 biolink:NamedThing orphanet.nt ORPHA:3115 biolink:NamedThing|biolink:Disease Roussy-Lévy syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:427 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:23657 biolink:NamedThing orphanet.nt ORPHA:602 biolink:NamedThing|biolink:Disease GNE myopathy orphanet.nt owl:Class !/hgnc_id/HGNC:20376 biolink:NamedThing orphanet.nt ORPHA:585 biolink:NamedThing|biolink:Disease Multiple sulfatase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:7467 biolink:NamedThing orphanet.nt ORPHA:426 biolink:NamedThing|biolink:Disease NON RARE IN EUROPE: Familial hypobetalipoproteinemia orphanet.nt owl:Class ORPHA:280219 biolink:NamedThing|biolink:Disease Pelizaeus-Merzbacher disease, classic form orphanet.nt owl:Class !/hgnc_id/HGNC:9330 biolink:NamedThing orphanet.nt ORPHA:93946 biolink:NamedThing|biolink:Disease Hamel cerebro-palato-cardiac syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:20759 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6663 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9717 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9495 biolink:NamedThing orphanet.nt ORPHA:404473 biolink:NamedThing|biolink:Disease Severe intellectual disability-progressive spastic diplegia syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:33551 biolink:NamedThing orphanet.nt ORPHA:308655 biolink:NamedThing|biolink:Disease Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form orphanet.nt owl:Class !/hgnc_id/HGNC:9969 biolink:NamedThing orphanet.nt ORPHA:504476 biolink:NamedThing|biolink:Disease Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:3681 biolink:NamedThing orphanet.nt ORPHA:2791 biolink:NamedThing|biolink:Disease Otodental syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:5969 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:5244 biolink:NamedThing orphanet.nt ORPHA:496751 biolink:NamedThing|biolink:Disease EVEN-plus syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:3496 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9039 biolink:NamedThing orphanet.nt ORPHA:199351 biolink:NamedThing|biolink:Disease Adult-onset dystonia-parkinsonism orphanet.nt owl:Class ORPHA:66637 biolink:NamedThing|biolink:Disease Diaphanospondylodysostosis orphanet.nt owl:Class !/hgnc_id/HGNC:232 biolink:NamedThing orphanet.nt ORPHA:2484 biolink:NamedThing|biolink:Disease Melnick-Needles syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:7529 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:8011 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:30129 biolink:NamedThing orphanet.nt ORPHA:101041 biolink:NamedThing|biolink:Disease Familial hypofibrinogenemia orphanet.nt owl:Class !/hgnc_id/HGNC:30696 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7486 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7907 biolink:NamedThing orphanet.nt ORPHA:93589 biolink:NamedThing|biolink:Disease Late-onset nephronophthisis orphanet.nt owl:Class !/hgnc_id/HGNC:29326 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:473 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:39080 biolink:NamedThing orphanet.nt ORPHA:98826 biolink:NamedThing|biolink:Disease Refractory anemia orphanet.nt owl:Class !/hgnc_id/HGNC:25792 biolink:NamedThing orphanet.nt ORPHA:122 biolink:NamedThing|biolink:Disease Birt-Hogg-Dubé syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:26600 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:24035 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7506 biolink:NamedThing orphanet.nt ORPHA:2457 biolink:NamedThing|biolink:Disease Mandibuloacral dysplasia orphanet.nt owl:Class !/hgnc_id/HGNC:7976 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:8548 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:8975 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:428 biolink:NamedThing orphanet.nt ORPHA:64 biolink:NamedThing|biolink:Disease Alström syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:3473 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2666 biolink:NamedThing orphanet.nt ORPHA:370997 biolink:NamedThing|biolink:Disease Muscle-eye-brain disease with bilateral multicystic leucodystrophy orphanet.nt owl:Class !/hgnc_id/HGNC:7450 biolink:NamedThing orphanet.nt ORPHA:99955 biolink:NamedThing|biolink:Disease Charcot-Marie-Tooth disease type 4B1 orphanet.nt owl:Class !/hgnc_id/HGNC:20324 biolink:NamedThing orphanet.nt ORPHA:1388 biolink:NamedThing|biolink:Disease Catel-Manzke syndrome orphanet.nt owl:Class ORPHA:2248 biolink:NamedThing|biolink:Disease Hypoplastic left heart syndrome orphanet.nt owl:Class ORPHA:849 biolink:NamedThing|biolink:Disease Glanzmann thrombasthenia orphanet.nt owl:Class !/hgnc_id/HGNC:7553 biolink:NamedThing orphanet.nt ORPHA:543 biolink:NamedThing|biolink:Disease Burkitt lymphoma orphanet.nt owl:Class ORPHA:280333 biolink:NamedThing|biolink:Disease Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 orphanet.nt owl:Class !/hgnc_id/HGNC:7516 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2584 biolink:NamedThing orphanet.nt ORPHA:867 biolink:NamedThing|biolink:Disease Familial multiple trichoepithelioma orphanet.nt owl:Class !/hgnc_id/HGNC:91 biolink:NamedThing orphanet.nt ORPHA:79157 biolink:NamedThing|biolink:Disease 2-methylbutyryl-CoA dehydrogenase deficiency orphanet.nt owl:Class ORPHA:397933 biolink:NamedThing|biolink:Disease Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:7865 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7605 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9236 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:315 biolink:NamedThing orphanet.nt ORPHA:313772 biolink:NamedThing|biolink:Disease Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:6155 biolink:NamedThing orphanet.nt ORPHA:99842 biolink:NamedThing|biolink:Disease Leukocyte adhesion deficiency type I orphanet.nt owl:Class ORPHA:99942 biolink:NamedThing|biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2I orphanet.nt owl:Class !/hgnc_id/HGNC:8487 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2955 biolink:NamedThing orphanet.nt ORPHA:238722 biolink:NamedThing|biolink:Disease Familial congenital mirror movements orphanet.nt owl:Class !/hgnc_id/HGNC:4831 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:33814 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:27375 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29242 biolink:NamedThing orphanet.nt ORPHA:137834 biolink:NamedThing|biolink:Disease Frank-Ter Haar syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:4492 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6250 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9325 biolink:NamedThing orphanet.nt ORPHA:228329 biolink:NamedThing|biolink:Disease CLN1 disease orphanet.nt owl:Class !/hgnc_id/HGNC:8621 biolink:NamedThing orphanet.nt ORPHA:99756 biolink:NamedThing|biolink:Disease Alveolar rhabdomyosarcoma orphanet.nt owl:Class !/hgnc_id/HGNC:23089 biolink:NamedThing orphanet.nt ORPHA:280794 biolink:NamedThing|biolink:Disease Pseudoxanthomatous diffuse cutaneous mastocytosis orphanet.nt owl:Class !/hgnc_id/HGNC:8743 biolink:NamedThing orphanet.nt ORPHA:71528 biolink:NamedThing|biolink:Disease Obesity due to prohormone convertase I deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:20856 biolink:NamedThing orphanet.nt ORPHA:98806 biolink:NamedThing|biolink:Disease Primary dystonia, DYT6 type orphanet.nt owl:Class !/hgnc_id/HGNC:2180 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7758 biolink:NamedThing orphanet.nt ORPHA:93400 biolink:NamedThing|biolink:Disease Congenital sialidosis type 2 orphanet.nt 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biolink:NamedThing|biolink:Disease Blomstrand lethal chondrodysplasia orphanet.nt owl:Class !/hgnc_id/HGNC:22938 biolink:NamedThing orphanet.nt ORPHA:247868 biolink:NamedThing|biolink:Disease NLRP12-associated hereditary periodic fever syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:8729 biolink:NamedThing orphanet.nt ORPHA:438134 biolink:NamedThing|biolink:Disease PCNA-related progressive neurodegenerative photosensitivity syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:60 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9884 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7795 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:5985 biolink:NamedThing orphanet.nt ORPHA:1899 biolink:NamedThing|biolink:Disease Arthrochalasia Ehlers-Danlos syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:29215 biolink:NamedThing orphanet.nt ORPHA:85288 biolink:NamedThing|biolink:Disease X-linked intellectual disability, Stocco Dos Santos type orphanet.nt owl:Class !/hgnc_id/HGNC:5270 biolink:NamedThing orphanet.nt ORPHA:401920 biolink:NamedThing|biolink:Disease Fibrolamellar hepatocellular carcinoma orphanet.nt owl:Class !/hgnc_id/HGNC:29536 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4393 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:30726 biolink:NamedThing orphanet.nt ORPHA:35737 biolink:NamedThing|biolink:Disease Morning glory disc anomaly orphanet.nt owl:Class ORPHA:86829 biolink:NamedThing|biolink:Disease Chronic neutrophilic leukemia orphanet.nt owl:Class !/hgnc_id/HGNC:4331 biolink:NamedThing orphanet.nt ORPHA:557064 biolink:NamedThing|biolink:Disease Neonatal epileptic encephalopathy due to glutaminase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:1975 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4932 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7171 biolink:NamedThing orphanet.nt ORPHA:2762 biolink:NamedThing|biolink:Disease Progressive osseous heteroplasia orphanet.nt owl:Class !/hgnc_id/HGNC:7489 biolink:NamedThing orphanet.nt ORPHA:1349 biolink:NamedThing|biolink:Disease Mitochondrial DNA-related cardiomyopathy and hearing loss orphanet.nt owl:Class !/hgnc_id/HGNC:3815 biolink:NamedThing orphanet.nt ORPHA:705 biolink:NamedThing|biolink:Disease Pendred syndrome orphanet.nt owl:Class ORPHA:2717 biolink:NamedThing|biolink:Disease Oculotrichoanal syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:28093 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2973 biolink:NamedThing orphanet.nt ORPHA:98673 biolink:NamedThing|biolink:Disease Autosomal dominant optic atrophy, classic form orphanet.nt owl:Class !/hgnc_id/HGNC:360 biolink:NamedThing orphanet.nt ORPHA:3453 biolink:NamedThing|biolink:Disease Autoimmune polyendocrinopathy type 1 orphanet.nt owl:Class !/hgnc_id/HGNC:26026 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:45 biolink:NamedThing orphanet.nt ORPHA:79305 biolink:NamedThing|biolink:Disease Progressive familial intrahepatic cholestasis type 3 orphanet.nt owl:Class ORPHA:353308 biolink:NamedThing|biolink:Disease Pyruvate carboxylase deficiency, infantile type 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owl:Class !/hgnc_id/HGNC:29090 biolink:NamedThing orphanet.nt ORPHA:2250 biolink:NamedThing|biolink:Disease Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:2208 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9922 biolink:NamedThing orphanet.nt ORPHA:352718 biolink:NamedThing|biolink:Disease Progressive retinal dystrophy due to retinol transport defect orphanet.nt owl:Class !/hgnc_id/HGNC:32780 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6547 biolink:NamedThing orphanet.nt ORPHA:1568 biolink:NamedThing|biolink:Disease X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:9878 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:5099 biolink:NamedThing orphanet.nt ORPHA:69737 biolink:NamedThing|biolink:Disease Bosley-Salih-Alorainy syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:26293 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6256 biolink:NamedThing orphanet.nt ORPHA:199343 biolink:NamedThing|biolink:Disease EAST syndrome orphanet.nt owl:Class ORPHA:240103 biolink:NamedThing|biolink:Disease Progressive supranuclear palsy-corticobasal syndrome orphanet.nt owl:Class ORPHA:401911 biolink:NamedThing|biolink:Disease AXIN2-related attenuated familial adenomatous polyposis orphanet.nt owl:Class ORPHA:98835 biolink:NamedThing|biolink:Disease Acute undifferentiated leukemia orphanet.nt owl:Class !/hgnc_id/HGNC:5201 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3756 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:23157 biolink:NamedThing orphanet.nt ORPHA:79320 biolink:NamedThing|biolink:Disease ALG6-CDG orphanet.nt owl:Class !/hgnc_id/HGNC:3661 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7530 biolink:NamedThing orphanet.nt ORPHA:343 biolink:NamedThing|biolink:Disease Hyperimmunoglobulinemia D with periodic fever orphanet.nt owl:Class !/hgnc_id/HGNC:30071 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:461 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:30304 biolink:NamedThing orphanet.nt ORPHA:459051 biolink:NamedThing|biolink:Disease Spondyloepiphyseal dysplasia, Stanescu type orphanet.nt owl:Class ORPHA:312 biolink:NamedThing|biolink:Disease Autosomal dominant epidermolytic ichthyosis orphanet.nt owl:Class ORPHA:97562 biolink:NamedThing|biolink:Disease NON RARE IN EUROPE: Benign familial hematuria orphanet.nt owl:Class !/hgnc_id/HGNC:26276 biolink:NamedThing orphanet.nt ORPHA:369881 biolink:NamedThing|biolink:Disease 2p21 microdeletion syndrome without cystinuria orphanet.nt owl:Class !/hgnc_id/HGNC:4455 biolink:NamedThing orphanet.nt ORPHA:300293 biolink:NamedThing|biolink:Disease Transient infantile hypertriglyceridemia and hepatosteatosis orphanet.nt owl:Class !/hgnc_id/HGNC:29021 biolink:NamedThing orphanet.nt ORPHA:199340 biolink:NamedThing|biolink:Disease Muscular dystrophy, Selcen type orphanet.nt owl:Class !/hgnc_id/HGNC:5466 biolink:NamedThing orphanet.nt ORPHA:231144 biolink:NamedThing|biolink:Disease Silver-Russell syndrome due to 11p15 microduplication orphanet.nt owl:Class !/hgnc_id/HGNC:3666 biolink:NamedThing orphanet.nt ORPHA:2363 biolink:NamedThing|biolink:Disease Lacrimoauriculodentodigital syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:27232 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2898 biolink:NamedThing orphanet.nt ORPHA:2394 biolink:NamedThing|biolink:Disease Pyruvate dehydrogenase E3 deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:6696 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:236 biolink:NamedThing orphanet.nt ORPHA:324588 biolink:NamedThing|biolink:Disease Familial dyskinesia and facial myokymia orphanet.nt owl:Class !/hgnc_id/HGNC:6872 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7102 biolink:NamedThing orphanet.nt ORPHA:319487 biolink:NamedThing|biolink:Disease Familial papillary or follicular thyroid carcinoma orphanet.nt owl:Class !/hgnc_id/HGNC:7097 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9006 biolink:NamedThing 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SH2B1 deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:8124 biolink:NamedThing orphanet.nt ORPHA:31 biolink:NamedThing|biolink:Disease Oxoglutaric aciduria orphanet.nt owl:Class !/hgnc_id/HGNC:6613 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4079 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29914 biolink:NamedThing orphanet.nt ORPHA:480682 biolink:NamedThing|biolink:Disease POGLUT1-related limb-girdle muscular dystrophy R21 orphanet.nt owl:Class !/hgnc_id/HGNC:6009 biolink:NamedThing orphanet.nt ORPHA:75326 biolink:NamedThing|biolink:Disease Retinal arterial tortuosity orphanet.nt owl:Class !/hgnc_id/HGNC:2933 biolink:NamedThing orphanet.nt ORPHA:273 biolink:NamedThing|biolink:Disease Steinert myotonic dystrophy orphanet.nt owl:Class !/hgnc_id/HGNC:4221 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7421 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:890 biolink:NamedThing orphanet.nt ORPHA:67046 biolink:NamedThing|biolink:Disease 3-methylglutaconic aciduria type 1 orphanet.nt owl:Class !/hgnc_id/HGNC:7883 biolink:NamedThing orphanet.nt ORPHA:2591 biolink:NamedThing|biolink:Disease Infantile myofibromatosis orphanet.nt owl:Class !/hgnc_id/HGNC:379 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3349 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3432 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3673 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:25325 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:5218 biolink:NamedThing orphanet.nt ORPHA:90791 biolink:NamedThing|biolink:Disease Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:3048 biolink:NamedThing orphanet.nt ORPHA:369999 biolink:NamedThing|biolink:Disease Diffuse palmoplantar keratoderma with painful fissures orphanet.nt owl:Class !/hgnc_id/HGNC:7910 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9498 biolink:NamedThing orphanet.nt ORPHA:206436 biolink:NamedThing|biolink:Disease Infantile Krabbe disease orphanet.nt owl:Class !/hgnc_id/HGNC:6619 biolink:NamedThing orphanet.nt ORPHA:140905 biolink:NamedThing|biolink:Disease Hyperlipidemia due to hepatic triacylglycerol lipase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:6814 biolink:NamedThing orphanet.nt ORPHA:420611 biolink:NamedThing|biolink:Disease Transient myeloproliferative syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:8760 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:5154 biolink:NamedThing orphanet.nt ORPHA:217059 biolink:NamedThing|biolink:Disease Isolated congenital digital clubbing orphanet.nt owl:Class !/hgnc_id/HGNC:8547 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29812 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29508 biolink:NamedThing orphanet.nt ORPHA:521390 biolink:NamedThing|biolink:Disease Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:8927 biolink:NamedThing orphanet.nt ORPHA:79240 biolink:NamedThing|biolink:Disease Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:6137 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9949 biolink:NamedThing orphanet.nt ORPHA:1225 biolink:NamedThing|biolink:Disease Baller-Gerold syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:9460 biolink:NamedThing orphanet.nt ORPHA:401901 biolink:NamedThing|biolink:Disease Huntington disease-like syndrome due to C9ORF72 expansions orphanet.nt owl:Class !/hgnc_id/HGNC:24809 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3531 biolink:NamedThing orphanet.nt ORPHA:331 biolink:NamedThing|biolink:Disease Congenital factor XIII deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:2336 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6065 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9206 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2135 biolink:NamedThing orphanet.nt ORPHA:99956 biolink:NamedThing|biolink:Disease Charcot-Marie-Tooth disease type 4B2 orphanet.nt owl:Class ORPHA:950 biolink:NamedThing|biolink:Disease Acrodysostosis 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orphanet.nt owl:Class !/hgnc_id/HGNC:6512 biolink:NamedThing orphanet.nt ORPHA:370088 biolink:NamedThing|biolink:Disease Acute infantile liver failure-multisystemic involvement syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:26560 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29043 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:21863 biolink:NamedThing orphanet.nt ORPHA:157954 biolink:NamedThing|biolink:Disease ANE syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:8806 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3619 biolink:NamedThing orphanet.nt ORPHA:437552 biolink:NamedThing|biolink:Disease Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity orphanet.nt owl:Class !/hgnc_id/HGNC:24284 biolink:NamedThing orphanet.nt ORPHA:500144 biolink:NamedThing|biolink:Disease Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome orphanet.nt owl:Class ORPHA:99811 biolink:NamedThing|biolink:Disease Neuronal intestinal pseudoobstruction orphanet.nt owl:Class !/hgnc_id/HGNC:28557 biolink:NamedThing orphanet.nt ORPHA:98843 biolink:NamedThing|biolink:Disease Classic Hodgkin lymphoma, nodular sclerosis type orphanet.nt owl:Class !/hgnc_id/HGNC:3433 biolink:NamedThing orphanet.nt ORPHA:1466 biolink:NamedThing|biolink:Disease COFS syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:28532 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:21285 biolink:NamedThing orphanet.nt ORPHA:2197 biolink:NamedThing|biolink:Disease Idiopathic hypercalciuria orphanet.nt owl:Class !/hgnc_id/HGNC:7797 biolink:NamedThing orphanet.nt ORPHA:98813 biolink:NamedThing|biolink:Disease Hypohidrotic ectodermal dysplasia with immunodeficiency orphanet.nt owl:Class ORPHA:35069 biolink:NamedThing|biolink:Disease Infantile neuroaxonal dystrophy orphanet.nt owl:Class ORPHA:140969 biolink:NamedThing|biolink:Disease Saldino-Mainzer syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:9545 biolink:NamedThing orphanet.nt ORPHA:324977 biolink:NamedThing|biolink:Disease Proteasome-associated autoinflammatory syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:2195 biolink:NamedThing orphanet.nt ORPHA:1571 biolink:NamedThing|biolink:Disease Knobloch syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:2260 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3259 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:20582 biolink:NamedThing orphanet.nt ORPHA:320411 biolink:NamedThing|biolink:Disease Autosomal recessive spastic paraplegia type 56 orphanet.nt owl:Class !/hgnc_id/HGNC:6010 biolink:NamedThing orphanet.nt ORPHA:276 biolink:NamedThing|biolink:Disease T-B+ severe combined immunodeficiency due to gamma chain deficiency orphanet.nt owl:Class ORPHA:178364 biolink:NamedThing|biolink:Disease Syndromic microphthalmia type 5 orphanet.nt owl:Class ORPHA:308698 biolink:NamedThing|biolink:Disease Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form orphanet.nt owl:Class !/hgnc_id/HGNC:3999 biolink:NamedThing orphanet.nt ORPHA:157846 biolink:NamedThing|biolink:Disease Neuroferritinopathy orphanet.nt owl:Class ORPHA:79644 biolink:NamedThing|biolink:Disease Autosomal recessive hyperinsulinism due to Kir6.2 deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:5438 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:5133 biolink:NamedThing orphanet.nt ORPHA:295203 biolink:NamedThing|biolink:Disease Congenital vertical talus, bilateral orphanet.nt owl:Class ORPHA:251370 biolink:NamedThing|biolink:Disease Sickle cell-hemoglobin D disease syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:8846 biolink:NamedThing orphanet.nt ORPHA:164736 biolink:NamedThing|biolink:Disease Familial advanced sleep-phase syndrome orphanet.nt owl:Class ORPHA:99003 biolink:NamedThing|biolink:Disease Multifocal pattern dystrophy simulating fundus flavimaculatus orphanet.nt owl:Class !/hgnc_id/HGNC:3748 biolink:NamedThing orphanet.nt ORPHA:462 biolink:NamedThing|biolink:Disease NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris orphanet.nt owl:Class !/hgnc_id/HGNC:2410 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:20889 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7660 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7960 biolink:NamedThing orphanet.nt ORPHA:247709 biolink:NamedThing|biolink:Disease Multiple endocrine neoplasia type 2B orphanet.nt owl:Class ORPHA:79499 biolink:NamedThing|biolink:Disease Autosomal dominant deafness-onychodystrophy syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:7121 biolink:NamedThing orphanet.nt ORPHA:2874 biolink:NamedThing|biolink:Disease Phakomatosis pigmentokeratotica orphanet.nt owl:Class !/hgnc_id/HGNC:23734 biolink:NamedThing orphanet.nt ORPHA:65288 biolink:NamedThing|biolink:Disease Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:25985 biolink:NamedThing orphanet.nt ORPHA:488635 biolink:NamedThing|biolink:Disease Early-onset epilepsy-intellectual disability-brain anomalies syndrome 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biolink:NamedThing|biolink:Disease Lethal acantholytic erosive disorder orphanet.nt owl:Class !/hgnc_id/HGNC:4824 biolink:NamedThing orphanet.nt ORPHA:93616 biolink:NamedThing|biolink:Disease Hemoglobin H disease orphanet.nt owl:Class !/hgnc_id/HGNC:6930 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:30910 biolink:NamedThing orphanet.nt ORPHA:314485 biolink:NamedThing|biolink:Disease Young adult-onset distal hereditary motor neuropathy orphanet.nt owl:Class ORPHA:2924 biolink:NamedThing|biolink:Disease Isolated polycystic liver disease orphanet.nt owl:Class !/hgnc_id/HGNC:2536 biolink:NamedThing orphanet.nt ORPHA:763 biolink:NamedThing|biolink:Disease Pycnodysostosis orphanet.nt owl:Class ORPHA:464293 biolink:NamedThing|biolink:Disease NON RARE IN EUROPE: Infantile capillary hemangioma orphanet.nt owl:Class !/hgnc_id/HGNC:6698 biolink:NamedThing orphanet.nt ORPHA:411969 biolink:NamedThing|biolink:Disease NON RARE IN EUROPE: Metabolic syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:8768 biolink:NamedThing orphanet.nt ORPHA:83629 biolink:NamedThing|biolink:Disease Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome orphanet.nt owl:Class ORPHA:324525 biolink:NamedThing|biolink:Disease Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation orphanet.nt owl:Class !/hgnc_id/HGNC:7166 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:19954 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:28396 biolink:NamedThing orphanet.nt ORPHA:99725 biolink:NamedThing|biolink:Disease Pituitary gigantism orphanet.nt owl:Class ORPHA:79395 biolink:NamedThing|biolink:Disease Keratoderma hereditarium mutilans with ichthyosis orphanet.nt owl:Class !/hgnc_id/HGNC:9113 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2511 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4115 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29529 biolink:NamedThing orphanet.nt ORPHA:487825 biolink:NamedThing|biolink:Disease Pierpont syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:961 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:23166 biolink:NamedThing orphanet.nt ORPHA:93274 biolink:NamedThing|biolink:Disease Thanatophoric dysplasia type 2 orphanet.nt owl:Class !/hgnc_id/HGNC:9455 biolink:NamedThing orphanet.nt ORPHA:226307 biolink:NamedThing|biolink:Disease Hypothyroidism due to deficient transcription factors involved in pituitary development or function orphanet.nt owl:Class !/hgnc_id/HGNC:4238 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9153 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29861 biolink:NamedThing orphanet.nt ORPHA:91489 biolink:NamedThing|biolink:Disease Isolated congenital megalocornea orphanet.nt owl:Class ORPHA:79396 biolink:NamedThing|biolink:Disease Autosomal dominant generalized epidermolysis bullosa simplex, severe form orphanet.nt owl:Class ORPHA:397606 biolink:NamedThing|biolink:Disease PrP systemic amyloidosis orphanet.nt owl:Class !/hgnc_id/HGNC:30881 biolink:NamedThing orphanet.nt ORPHA:440731 biolink:NamedThing|biolink:Disease L-ferritin deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:6106 biolink:NamedThing orphanet.nt ORPHA:37042 biolink:NamedThing|biolink:Disease Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome orphanet.nt owl:Class ORPHA:494344 biolink:NamedThing|biolink:Disease RERE-related neurodevelopmental syndrome orphanet.nt owl:Class ORPHA:100994 biolink:NamedThing|biolink:Disease Autosomal dominant spastic paraplegia type 13 orphanet.nt owl:Class !/hgnc_id/HGNC:28741 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2528 biolink:NamedThing orphanet.nt ORPHA:678 biolink:NamedThing|biolink:Disease Papillon-Lefèvre syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:348 biolink:NamedThing orphanet.nt ORPHA:99806 biolink:NamedThing|biolink:Disease Oculootodental syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:7594 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:20407 biolink:NamedThing orphanet.nt ORPHA:2774 biolink:NamedThing|biolink:Disease Multicentric carpo-tarsal osteolysis with or without nephropathy orphanet.nt owl:Class ORPHA:735 biolink:NamedThing|biolink:Disease Porokeratosis of Mibelli orphanet.nt owl:Class !/hgnc_id/HGNC:2279 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2045 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6188 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3179 biolink:NamedThing orphanet.nt ORPHA:443995 biolink:NamedThing|biolink:Disease Mandibulofacial dysostosis with alopecia orphanet.nt owl:Class !/hgnc_id/HGNC:24576 biolink:NamedThing orphanet.nt ORPHA:282166 biolink:NamedThing|biolink:Disease Inherited Creutzfeldt-Jakob disease orphanet.nt owl:Class !/hgnc_id/HGNC:7500 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:469 biolink:NamedThing orphanet.nt ORPHA:369920 biolink:NamedThing|biolink:Disease Pontocerebellar hypoplasia type 9 orphanet.nt owl:Class !/hgnc_id/HGNC:8851 biolink:NamedThing orphanet.nt ORPHA:247815 biolink:NamedThing|biolink:Disease Autosomal recessive ataxia due to PEX10 deficiency orphanet.nt owl:Class ORPHA:289849 biolink:NamedThing|biolink:Disease Glutathione synthetase deficiency without 5-oxoprolinuria orphanet.nt owl:Class ORPHA:168796 biolink:NamedThing|biolink:Disease Heart-hand syndrome, Slovenian type orphanet.nt owl:Class !/hgnc_id/HGNC:23215 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:1956 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:195 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29106 biolink:NamedThing orphanet.nt ORPHA:320380 biolink:NamedThing|biolink:Disease Autosomal recessive spastic paraplegia type 54 orphanet.nt owl:Class !/hgnc_id/HGNC:6161 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:30802 biolink:NamedThing orphanet.nt ORPHA:565612 biolink:NamedThing|biolink:Disease Triglyceride deposit cardiomyovasculopathy orphanet.nt owl:Class ORPHA:93316 biolink:NamedThing|biolink:Disease Spondylometaphyseal dysplasia, Schmidt type orphanet.nt owl:Class !/hgnc_id/HGNC:26724 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:28986 biolink:NamedThing orphanet.nt ORPHA:83472 biolink:NamedThing|biolink:Disease CAMOS syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:9896 biolink:NamedThing orphanet.nt ORPHA:2886 biolink:NamedThing|biolink:Disease TARP syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:29007 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:42 biolink:NamedThing orphanet.nt ORPHA:206554 biolink:NamedThing|biolink:Disease Fukutin-related limb-girdle muscular dystrophy R13 orphanet.nt owl:Class !/hgnc_id/HGNC:7821 biolink:NamedThing orphanet.nt ORPHA:217 biolink:NamedThing|biolink:Disease Isolated Dandy-Walker malformation orphanet.nt owl:Class !/hgnc_id/HGNC:9820 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:8141 biolink:NamedThing orphanet.nt ORPHA:98890 biolink:NamedThing|biolink:Disease Early-onset X-linked optic atrophy orphanet.nt owl:Class !/hgnc_id/HGNC:2736 biolink:NamedThing orphanet.nt ORPHA:280558 biolink:NamedThing|biolink:Disease Warsaw breakage syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:6414 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9713 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:26558 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:28958 biolink:NamedThing orphanet.nt ORPHA:251290 biolink:NamedThing|biolink:Disease Parietal foramina with clavicular hypoplasia orphanet.nt owl:Class !/hgnc_id/HGNC:5716 biolink:NamedThing orphanet.nt ORPHA:183675 biolink:NamedThing|biolink:Disease Recurrent infections associated with rare immunoglobulin isotypes deficiency orphanet.nt owl:Class ORPHA:447 biolink:NamedThing|biolink:Disease Paroxysmal nocturnal hemoglobinuria orphanet.nt owl:Class !/hgnc_id/HGNC:2902 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9752 biolink:NamedThing orphanet.nt ORPHA:226 biolink:NamedThing|biolink:Disease Dihydropteridine reductase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:20670 biolink:NamedThing orphanet.nt ORPHA:920 biolink:NamedThing|biolink:Disease Ablepharon macrostomia syndrome orphanet.nt owl:Class ORPHA:98809 biolink:NamedThing|biolink:Disease Paroxysmal kinesigenic dyskinesia orphanet.nt owl:Class ORPHA:231679 biolink:NamedThing|biolink:Disease Isolated growth hormone deficiency type II orphanet.nt owl:Class ORPHA:248408 biolink:NamedThing|biolink:Disease Familial hypodysfibrinogenemia orphanet.nt owl:Class !/hgnc_id/HGNC:43724 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6344 biolink:NamedThing orphanet.nt ORPHA:79643 biolink:NamedThing|biolink:Disease Autosomal recessive hyperinsulinism due to SUR1 deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:2025 biolink:NamedThing orphanet.nt ORPHA:53 biolink:NamedThing|biolink:Disease Albers-Schönberg osteopetrosis orphanet.nt owl:Class ORPHA:93258 biolink:NamedThing|biolink:Disease Pfeiffer syndrome type 1 orphanet.nt owl:Class !/hgnc_id/HGNC:5212 biolink:NamedThing orphanet.nt ORPHA:752 biolink:NamedThing|biolink:Disease 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:4801 biolink:NamedThing orphanet.nt ORPHA:5 biolink:NamedThing|biolink:Disease Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:8983 biolink:NamedThing orphanet.nt ORPHA:98889 biolink:NamedThing|biolink:Disease Bilateral perisylvian polymicrogyria orphanet.nt owl:Class !/hgnc_id/HGNC:34016 biolink:NamedThing orphanet.nt ORPHA:2636 biolink:NamedThing|biolink:Disease Microcephalic osteodysplastic primordial dwarfism types I and III orphanet.nt owl:Class !/hgnc_id/HGNC:338 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6842 biolink:NamedThing orphanet.nt ORPHA:93315 biolink:NamedThing|biolink:Disease Spondylometaphyseal dysplasia, 'corner fracture' type orphanet.nt owl:Class !/hgnc_id/HGNC:3804 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:8858 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9452 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:20153 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3147 biolink:NamedThing orphanet.nt ORPHA:329457 biolink:NamedThing|biolink:Disease Distal arthrogryposis type 5D orphanet.nt owl:Class !/hgnc_id/HGNC:8850 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:28216 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6239 biolink:NamedThing orphanet.nt ORPHA:98772 biolink:NamedThing|biolink:Disease Spinocerebellar ataxia type 19/22 orphanet.nt owl:Class !/hgnc_id/HGNC:5103 biolink:NamedThing orphanet.nt ORPHA:83463 biolink:NamedThing|biolink:Disease Microtia orphanet.nt owl:Class ORPHA:3384 biolink:NamedThing|biolink:Disease Truncus arteriosus orphanet.nt owl:Class !/hgnc_id/HGNC:20340 biolink:NamedThing orphanet.nt ORPHA:402082 biolink:NamedThing|biolink:Disease Progressive myoclonic epilepsy type 5 orphanet.nt owl:Class !/hgnc_id/HGNC:392 biolink:NamedThing orphanet.nt ORPHA:79085 biolink:NamedThing|biolink:Disease AKT2-related familial partial lipodystrophy orphanet.nt owl:Class !/hgnc_id/HGNC:5227 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3483 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4699 biolink:NamedThing orphanet.nt ORPHA:263297 biolink:NamedThing|biolink:Disease Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency orphanet.nt owl:Class ORPHA:95706 biolink:NamedThing|biolink:Disease Non-syndromic posterior hypospadias orphanet.nt owl:Class !/hgnc_id/HGNC:7684 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:19440 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3013 biolink:NamedThing orphanet.nt ORPHA:38874 biolink:NamedThing|biolink:Disease Dihydropyrimidinuria orphanet.nt owl:Class !/hgnc_id/HGNC:25751 biolink:NamedThing orphanet.nt ORPHA:369840 biolink:NamedThing|biolink:Disease TRAPPC11-related limb-girdle muscular dystrophy R18 orphanet.nt owl:Class !/hgnc_id/HGNC:9364 biolink:NamedThing orphanet.nt ORPHA:2848 biolink:NamedThing|biolink:Disease Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:25280 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:30858 biolink:NamedThing orphanet.nt ORPHA:79113 biolink:NamedThing|biolink:Disease Mandibulofacial dysostosis-microcephaly syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:9122 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4401 biolink:NamedThing orphanet.nt ORPHA:542306 biolink:NamedThing|biolink:Disease GNB5-related intellectual disability-cardiac arrhythmia syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:3760 biolink:NamedThing orphanet.nt ORPHA:320406 biolink:NamedThing|biolink:Disease Spastic paraplegia-optic atrophy-neuropathy syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:6740 biolink:NamedThing orphanet.nt ORPHA:93561 biolink:NamedThing|biolink:Disease ALys amyloidosis orphanet.nt owl:Class !/hgnc_id/HGNC:2077 biolink:NamedThing orphanet.nt ORPHA:228340 biolink:NamedThing|biolink:Disease CLN4A disease orphanet.nt owl:Class !/hgnc_id/HGNC:5586 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:8773 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9905 biolink:NamedThing orphanet.nt ORPHA:3320 biolink:NamedThing|biolink:Disease Thrombocytopenia-absent radius syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:24668 biolink:NamedThing orphanet.nt ORPHA:53696 biolink:NamedThing|biolink:Disease Arthrogryposis-anterior horn cell disease syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:399 biolink:NamedThing orphanet.nt ORPHA:86816 biolink:NamedThing|biolink:Disease Congenital analbuminemia orphanet.nt owl:Class !/hgnc_id/HGNC:30577 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7135 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:23177 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:8931 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3372 biolink:NamedThing orphanet.nt ORPHA:171703 biolink:NamedThing|biolink:Disease Microcephaly-polymicrogyria-corpus callosum agenesis syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:2218 biolink:NamedThing orphanet.nt ORPHA:90321 biolink:NamedThing|biolink:Disease Cockayne syndrome type 1 orphanet.nt owl:Class ORPHA:207 biolink:NamedThing|biolink:Disease Crouzon disease orphanet.nt owl:Class !/hgnc_id/HGNC:29022 biolink:NamedThing orphanet.nt ORPHA:90039 biolink:NamedThing|biolink:Disease Hemoglobin D disease orphanet.nt owl:Class !/hgnc_id/HGNC:897 biolink:NamedThing orphanet.nt ORPHA:223 biolink:NamedThing|biolink:Disease Nephrogenic diabetes insipidus orphanet.nt owl:Class !/hgnc_id/HGNC:3356 biolink:NamedThing orphanet.nt ORPHA:1306 biolink:NamedThing|biolink:Disease Buschke-Ollendorff syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:3535 biolink:NamedThing orphanet.nt ORPHA:90654 biolink:NamedThing|biolink:Disease Stickler syndrome type 2 orphanet.nt owl:Class ORPHA:3166 biolink:NamedThing|biolink:Disease Sialuria orphanet.nt owl:Class !/hgnc_id/HGNC:4938 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7495 biolink:NamedThing orphanet.nt ORPHA:52688 biolink:NamedThing|biolink:Disease Myelodysplastic syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:23336 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2719 biolink:NamedThing orphanet.nt ORPHA:35708 biolink:NamedThing|biolink:Disease Aromatic L-amino acid decarboxylase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:23141 biolink:NamedThing orphanet.nt ORPHA:477684 biolink:NamedThing|biolink:Disease Combined oxidative phosphorylation defect type 26 orphanet.nt owl:Class !/hgnc_id/HGNC:3247 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2213 biolink:NamedThing orphanet.nt ORPHA:610 biolink:NamedThing|biolink:Disease Bethlem myopathy orphanet.nt owl:Class !/hgnc_id/HGNC:7508 biolink:NamedThing orphanet.nt ORPHA:88949 biolink:NamedThing|biolink:Disease MUC1-related autosomal dominant tubulointerstitial kidney disease orphanet.nt owl:Class !/hgnc_id/HGNC:5384 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:21957 biolink:NamedThing orphanet.nt ORPHA:263516 biolink:NamedThing|biolink:Disease Progressive myoclonic epilepsy type 3 orphanet.nt owl:Class !/hgnc_id/HGNC:667 biolink:NamedThing orphanet.nt ORPHA:589608 biolink:NamedThing|biolink:Disease Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies orphanet.nt owl:Class !/hgnc_id/HGNC:7459 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6685 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:26899 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:20233 biolink:NamedThing orphanet.nt ORPHA:280406 biolink:NamedThing|biolink:Disease Familial steroid-resistant nephrotic syndrome with sensorineural deafness orphanet.nt owl:Class !/hgnc_id/HGNC:3579 biolink:NamedThing orphanet.nt ORPHA:882 biolink:NamedThing|biolink:Disease Tyrosinemia type 1 orphanet.nt owl:Class ORPHA:276271 biolink:NamedThing|biolink:Disease NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia orphanet.nt owl:Class ORPHA:90324 biolink:NamedThing|biolink:Disease Cockayne syndrome type 3 orphanet.nt owl:Class !/hgnc_id/HGNC:21734 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4010 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7422 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4388 biolink:NamedThing orphanet.nt ORPHA:329466 biolink:NamedThing|biolink:Disease Autosomal dominant focal dystonia, DYT25 type orphanet.nt owl:Class !/hgnc_id/HGNC:19687 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:24870 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9066 biolink:NamedThing orphanet.nt ORPHA:324530 biolink:NamedThing|biolink:Disease Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation orphanet.nt owl:Class !/hgnc_id/HGNC:8761 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:26901 biolink:NamedThing orphanet.nt ORPHA:300751 biolink:NamedThing|biolink:Disease Familial dilated cardiomyopathy with conduction defect due to LMNA mutation orphanet.nt owl:Class !/hgnc_id/HGNC:22219 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:8583 biolink:NamedThing orphanet.nt ORPHA:465 biolink:NamedThing|biolink:Disease Congenital plasminogen activator inhibitor type 1 deficiency orphanet.nt owl:Class ORPHA:747 biolink:NamedThing|biolink:Disease Autoimmune pulmonary alveolar proteinosis orphanet.nt owl:Class !/hgnc_id/HGNC:4319 biolink:NamedThing orphanet.nt ORPHA:93335 biolink:NamedThing|biolink:Disease Postaxial polydactyly type B orphanet.nt owl:Class !/hgnc_id/HGNC:950 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4057 biolink:NamedThing orphanet.nt ORPHA:466026 biolink:NamedThing|biolink:Disease Class I glucose-6-phosphate dehydrogenase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:2909 biolink:NamedThing orphanet.nt ORPHA:319681 biolink:NamedThing|biolink:Disease NON RARE IN EUROPE: Lactase non-persistence in adulthood orphanet.nt owl:Class ORPHA:178377 biolink:NamedThing|biolink:Disease Osteosclerosis-developmental delay-craniosynostosis syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:7060 biolink:NamedThing orphanet.nt ORPHA:85202 biolink:NamedThing|biolink:Disease Keutel syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:21701 biolink:NamedThing orphanet.nt ORPHA:435845 biolink:NamedThing|biolink:Disease Lethal neonatal spasticity-epileptic encephalopathy syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:4796 biolink:NamedThing orphanet.nt ORPHA:521438 biolink:NamedThing|biolink:Disease Congenital vertebral-cardiac-renal anomalies syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:9143 biolink:NamedThing orphanet.nt ORPHA:2151 biolink:NamedThing|biolink:Disease Hirschsprung disease-ganglioneuroblastoma syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:2505 biolink:NamedThing orphanet.nt ORPHA:530838 biolink:NamedThing|biolink:Disease KRT1-related diffuse nonepidermolytic keratoderma orphanet.nt owl:Class ORPHA:2117 biolink:NamedThing|biolink:Disease Hartsfield syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:30832 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3581 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:28993 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6490 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2678 biolink:NamedThing orphanet.nt ORPHA:363412 biolink:NamedThing|biolink:Disease Hypomyelination with brain stem and spinal cord involvement and leg spasticity 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!/hgnc_id/HGNC:22962 biolink:NamedThing orphanet.nt ORPHA:369891 biolink:NamedThing|biolink:Disease Developmental delay-facial dysmorphism syndrome due to MED13L deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:26144 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9834 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:5331 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:20597 biolink:NamedThing orphanet.nt ORPHA:309178 biolink:NamedThing|biolink:Disease Tay-Sachs disease, B variant, infantile form orphanet.nt owl:Class !/hgnc_id/HGNC:2515 biolink:NamedThing orphanet.nt ORPHA:420702 biolink:NamedThing|biolink:Disease Autosomal recessive severe congenital neutropenia due to CSF3R deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:24102 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9071 biolink:NamedThing orphanet.nt ORPHA:537072 biolink:NamedThing|biolink:Disease PLG-related hereditary angioedema with normal C1Inh orphanet.nt owl:Class !/hgnc_id/HGNC:29112 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:25367 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4707 biolink:NamedThing orphanet.nt ORPHA:2089 biolink:NamedThing|biolink:Disease Glycogen storage disease due to hepatic glycogen synthase deficiency orphanet.nt owl:Class ORPHA:352530 biolink:NamedThing|biolink:Disease Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:9722 biolink:NamedThing orphanet.nt ORPHA:90348 biolink:NamedThing|biolink:Disease Autosomal dominant cutis laxa orphanet.nt owl:Class ORPHA:199329 biolink:NamedThing|biolink:Disease Congenital myopathy, Paradas type orphanet.nt owl:Class !/hgnc_id/HGNC:27089 biolink:NamedThing orphanet.nt ORPHA:542301 biolink:NamedThing|biolink:Disease Combined immunodeficiency due to CARMIL2 deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:23038 biolink:NamedThing orphanet.nt ORPHA:79284 biolink:NamedThing|biolink:Disease Methylmalonic acidemia with homocystinuria type cblF orphanet.nt owl:Class !/hgnc_id/HGNC:2409 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3046 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3602 biolink:NamedThing orphanet.nt ORPHA:3148 biolink:NamedThing|biolink:Disease Malignant peripheral nerve sheath tumor orphanet.nt owl:Class !/hgnc_id/HGNC:26239 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4317 biolink:NamedThing orphanet.nt ORPHA:93339 biolink:NamedThing|biolink:Disease Polydactyly of a biphalangeal thumb orphanet.nt owl:Class !/hgnc_id/HGNC:5956 biolink:NamedThing orphanet.nt ORPHA:63446 biolink:NamedThing|biolink:Disease Acrocapitofemoral dysplasia orphanet.nt owl:Class !/hgnc_id/HGNC:4585 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6000 biolink:NamedThing orphanet.nt ORPHA:210115 biolink:NamedThing|biolink:Disease Sterile multifocal osteomyelitis with periostitis and pustulosis orphanet.nt owl:Class ORPHA:276241 biolink:NamedThing|biolink:Disease Machado-Joseph disease type 2 orphanet.nt owl:Class !/hgnc_id/HGNC:26922 biolink:NamedThing 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!/hgnc_id/HGNC:7788 biolink:NamedThing orphanet.nt ORPHA:561 biolink:NamedThing|biolink:Disease Marshall-Smith syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:819 biolink:NamedThing orphanet.nt ORPHA:464756 biolink:NamedThing|biolink:Disease Familial gastric type 1 neuroendocrine tumor orphanet.nt owl:Class !/hgnc_id/HGNC:6231 biolink:NamedThing orphanet.nt ORPHA:101082 biolink:NamedThing|biolink:Disease Charcot-Marie-Tooth disease type 1B orphanet.nt owl:Class ORPHA:596 biolink:NamedThing|biolink:Disease X-linked centronuclear myopathy orphanet.nt owl:Class !/hgnc_id/HGNC:7315 biolink:NamedThing orphanet.nt ORPHA:199354 biolink:NamedThing|biolink:Disease Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy orphanet.nt owl:Class !/hgnc_id/HGNC:8971 biolink:NamedThing orphanet.nt ORPHA:557003 biolink:NamedThing|biolink:Disease Oculocerebrodental syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:3586 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:23150 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3755 biolink:NamedThing orphanet.nt ORPHA:1190 biolink:NamedThing|biolink:Disease Atelosteogenesis type I orphanet.nt owl:Class !/hgnc_id/HGNC:3153 biolink:NamedThing orphanet.nt ORPHA:530 biolink:NamedThing|biolink:Disease Lipoid proteinosis orphanet.nt owl:Class !/hgnc_id/HGNC:24036 biolink:NamedThing orphanet.nt ORPHA:1263 biolink:NamedThing|biolink:Disease Boomerang dysplasia orphanet.nt owl:Class !/hgnc_id/HGNC:9679 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4044 biolink:NamedThing orphanet.nt ORPHA:280654 biolink:NamedThing|biolink:Disease Autosomal recessive nail dysplasia orphanet.nt owl:Class !/hgnc_id/HGNC:30767 biolink:NamedThing orphanet.nt ORPHA:221139 biolink:NamedThing|biolink:Disease Combined immunodeficiency with faciooculoskeletal anomalies orphanet.nt owl:Class !/hgnc_id/HGNC:837 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:33867 biolink:NamedThing orphanet.nt ORPHA:93473 biolink:NamedThing|biolink:Disease Hurler 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!/hgnc_id/HGNC:21253 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7150 biolink:NamedThing orphanet.nt ORPHA:943 biolink:NamedThing|biolink:Disease Malonic aciduria orphanet.nt owl:Class !/hgnc_id/HGNC:3180 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:5542 biolink:NamedThing orphanet.nt ORPHA:443073 biolink:NamedThing|biolink:Disease Charcot-Marie-Tooth disease type 2S orphanet.nt owl:Class !/hgnc_id/HGNC:6902 biolink:NamedThing orphanet.nt ORPHA:331187 biolink:NamedThing|biolink:Disease Immunodeficiency due to MASP-2 deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:6462 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:408 biolink:NamedThing orphanet.nt ORPHA:22 biolink:NamedThing|biolink:Disease Succinic semialdehyde dehydrogenase deficiency orphanet.nt owl:Class ORPHA:888 biolink:NamedThing|biolink:Disease Van der Woude syndrome orphanet.nt owl:Class ORPHA:231568 biolink:NamedThing|biolink:Disease Autosomal dominant generalized dystrophic epidermolysis bullosa orphanet.nt owl:Class 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!/hgnc_id/HGNC:2942 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6174 biolink:NamedThing orphanet.nt ORPHA:97345 biolink:NamedThing|biolink:Disease ABri amyloidosis orphanet.nt owl:Class !/hgnc_id/HGNC:8617 biolink:NamedThing orphanet.nt ORPHA:896 biolink:NamedThing|biolink:Disease Waardenburg syndrome type 3 orphanet.nt owl:Class !/hgnc_id/HGNC:7762 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6027 biolink:NamedThing orphanet.nt ORPHA:420699 biolink:NamedThing|biolink:Disease Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:7473 biolink:NamedThing orphanet.nt ORPHA:2169 biolink:NamedThing|biolink:Disease Methylcobalamin deficiency type cblE orphanet.nt owl:Class ORPHA:200418 biolink:NamedThing|biolink:Disease Immunodeficiency with factor I anomaly orphanet.nt owl:Class !/hgnc_id/HGNC:6323 biolink:NamedThing orphanet.nt ORPHA:324611 biolink:NamedThing|biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2 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ORPHA:66634 biolink:NamedThing|biolink:Disease Dilated cardiomyopathy with ataxia orphanet.nt owl:Class ORPHA:330041 biolink:NamedThing|biolink:Disease Hemoglobin M disease orphanet.nt owl:Class !/hgnc_id/HGNC:26530 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:986 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4084 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:21054 biolink:NamedThing orphanet.nt ORPHA:1486 biolink:NamedThing|biolink:Disease Lethal congenital contracture syndrome type 1 orphanet.nt owl:Class !/hgnc_id/HGNC:3625 biolink:NamedThing orphanet.nt ORPHA:331190 biolink:NamedThing|biolink:Disease Immunodeficiency due to ficolin3 deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:321 biolink:NamedThing orphanet.nt ORPHA:366 biolink:NamedThing|biolink:Disease Glycogen storage disease due to glycogen debranching enzyme deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:2661 biolink:NamedThing orphanet.nt ORPHA:363710 biolink:NamedThing|biolink:Disease Spinocerebellar ataxia type 37 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ORPHA:79325 biolink:NamedThing|biolink:Disease ALG8-CDG orphanet.nt owl:Class !/hgnc_id/HGNC:2185 biolink:NamedThing orphanet.nt ORPHA:174 biolink:NamedThing|biolink:Disease Metaphyseal chondrodysplasia, Schmid type orphanet.nt owl:Class !/hgnc_id/HGNC:20606 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4803 biolink:NamedThing orphanet.nt ORPHA:746 biolink:NamedThing|biolink:Disease Mitochondrial trifunctional protein deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:33862 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:5228 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:8820 biolink:NamedThing orphanet.nt ORPHA:101108 biolink:NamedThing|biolink:Disease Spinocerebellar ataxia type 23 orphanet.nt owl:Class !/hgnc_id/HGNC:6296 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:24415 biolink:NamedThing orphanet.nt ORPHA:401874 biolink:NamedThing|biolink:Disease Multiple mitochondrial dysfunctions syndrome type 2 orphanet.nt owl:Class !/hgnc_id/HGNC:6560 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:21555 biolink:NamedThing orphanet.nt ORPHA:542585 biolink:NamedThing|biolink:Disease Auditory neuropathy-optic atrophy syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:5048 biolink:NamedThing orphanet.nt ORPHA:238769 biolink:NamedThing|biolink:Disease 1q44 microdeletion syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:9955 biolink:NamedThing orphanet.nt ORPHA:530792 biolink:NamedThing|biolink:Disease RELA fusion-positive ependymoma orphanet.nt owl:Class ORPHA:586130 biolink:NamedThing|biolink:Disease Sporadic fatal insomnia orphanet.nt owl:Class ORPHA:168563 biolink:NamedThing|biolink:Disease 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:2651 biolink:NamedThing orphanet.nt ORPHA:209902 biolink:NamedThing|biolink:Disease Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:3087 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3778 biolink:NamedThing orphanet.nt ORPHA:84090 biolink:NamedThing|biolink:Disease Fibronectin glomerulopathy orphanet.nt owl:Class ORPHA:454745 biolink:NamedThing|biolink:Disease Kuru orphanet.nt owl:Class !/hgnc_id/HGNC:23694 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:8918 biolink:NamedThing orphanet.nt ORPHA:89936 biolink:NamedThing|biolink:Disease X-linked hypophosphatemia orphanet.nt owl:Class !/hgnc_id/HGNC:23094 biolink:NamedThing orphanet.nt ORPHA:247794 biolink:NamedThing|biolink:Disease Juvenile cataract-microcornea-renal glucosuria syndrome orphanet.nt owl:Class ORPHA:98834 biolink:NamedThing|biolink:Disease Acute myeloblastic leukemia with maturation orphanet.nt owl:Class ORPHA:247198 biolink:NamedThing|biolink:Disease Progressive cerebello-cerebral atrophy orphanet.nt owl:Class ORPHA:85212 biolink:NamedThing|biolink:Disease Fetal Gaucher disease orphanet.nt owl:Class !/hgnc_id/HGNC:21558 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3670 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2682 biolink:NamedThing orphanet.nt ORPHA:565858 biolink:NamedThing|biolink:Disease Craniosynostosis-microretrognathia-severe intellectual disability syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:7207 biolink:NamedThing orphanet.nt ORPHA:79323 biolink:NamedThing|biolink:Disease MPDU1-CDG orphanet.nt owl:Class !/hgnc_id/HGNC:6584 biolink:NamedThing orphanet.nt ORPHA:325448 biolink:NamedThing|biolink:Disease Leydig cell hypoplasia due to LHB deficiency orphanet.nt owl:Class ORPHA:65282 biolink:NamedThing|biolink:Disease Carvajal syndrome orphanet.nt owl:Class ORPHA:95702 biolink:NamedThing|biolink:Disease X-linked adrenal hypoplasia congenita orphanet.nt owl:Class ORPHA:633 biolink:NamedThing|biolink:Disease Laron syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:3005 biolink:NamedThing orphanet.nt ORPHA:79322 biolink:NamedThing|biolink:Disease DPM1-CDG orphanet.nt owl:Class ORPHA:169793 biolink:NamedThing|biolink:Disease Severe hemophilia B orphanet.nt owl:Class !/hgnc_id/HGNC:28295 biolink:NamedThing orphanet.nt ORPHA:309162 biolink:NamedThing|biolink:Disease Sandhoff disease, juvenile form orphanet.nt owl:Class ORPHA:447757 biolink:NamedThing|biolink:Disease Autosomal dominant spastic paraplegia type 9B orphanet.nt owl:Class ORPHA:94125 biolink:NamedThing|biolink:Disease Recessive mitochondrial ataxia syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:28957 biolink:NamedThing orphanet.nt ORPHA:480898 biolink:NamedThing|biolink:Disease Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:30935 biolink:NamedThing orphanet.nt ORPHA:79094 biolink:NamedThing|biolink:Disease Grange syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:6469 biolink:NamedThing orphanet.nt ORPHA:79155 biolink:NamedThing|biolink:Disease Hydroxykynureninuria orphanet.nt owl:Class !/hgnc_id/HGNC:25964 biolink:NamedThing orphanet.nt ORPHA:86849 biolink:NamedThing|biolink:Disease Acute basophilic leukemia orphanet.nt owl:Class ORPHA:85146 biolink:NamedThing|biolink:Disease Neurogenic scapuloperoneal syndrome, Kaeser type orphanet.nt owl:Class ORPHA:300359 biolink:NamedThing|biolink:Disease PLCG2-associated antibody deficiency and immune dysregulation orphanet.nt owl:Class ORPHA:139498 biolink:NamedThing|biolink:Disease NON RARE IN EUROPE: Hemochromatosis type 1 orphanet.nt owl:Class ORPHA:908 biolink:NamedThing|biolink:Disease Fragile X syndrome orphanet.nt owl:Class ORPHA:1426 biolink:NamedThing|biolink:Disease Greenberg dysplasia orphanet.nt owl:Class ORPHA:69063 biolink:NamedThing|biolink:Disease Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization orphanet.nt owl:Class !/hgnc_id/HGNC:4394 biolink:NamedThing orphanet.nt ORPHA:1871 biolink:NamedThing|biolink:Disease Progressive cone dystrophy orphanet.nt owl:Class ORPHA:1879 biolink:NamedThing|biolink:Disease Melorheostosis with osteopoikilosis orphanet.nt owl:Class ORPHA:2189 biolink:NamedThing|biolink:Disease Hydrolethalus orphanet.nt owl:Class !/hgnc_id/HGNC:6649 biolink:NamedThing orphanet.nt ORPHA:3366 biolink:NamedThing|biolink:Disease Isolated trigonocephaly orphanet.nt owl:Class !/hgnc_id/HGNC:4829 biolink:NamedThing orphanet.nt ORPHA:330032 biolink:NamedThing|biolink:Disease Hemoglobin Lepore-beta-thalassemia syndrome orphanet.nt owl:Class ORPHA:296 biolink:NamedThing|biolink:Disease Ollier disease orphanet.nt owl:Class !/hgnc_id/HGNC:21684 biolink:NamedThing orphanet.nt ORPHA:502430 biolink:NamedThing|biolink:Disease Metopic ridging-ptosis-facial dysmorphism syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:21317 biolink:NamedThing orphanet.nt ORPHA:239 biolink:NamedThing|biolink:Disease Dyggve-Melchior-Clausen disease orphanet.nt owl:Class !/hgnc_id/HGNC:8889 biolink:NamedThing orphanet.nt ORPHA:97234 biolink:NamedThing|biolink:Disease Glycogen storage disease due to phosphoglycerate mutase deficiency orphanet.nt owl:Class ORPHA:2030 biolink:NamedThing|biolink:Disease Fibrosarcoma 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ORPHA:55596 biolink:NamedThing|biolink:Disease HNRNPDL-related limb-girdle muscular dystrophy D3 orphanet.nt owl:Class !/hgnc_id/HGNC:2481 biolink:NamedThing orphanet.nt ORPHA:394529 biolink:NamedThing|biolink:Disease Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type orphanet.nt owl:Class !/hgnc_id/HGNC:9407 biolink:NamedThing orphanet.nt ORPHA:276145 biolink:NamedThing|biolink:Disease Malignant epithelial tumor of salivary glands orphanet.nt owl:Class !/hgnc_id/HGNC:21197 biolink:NamedThing orphanet.nt ORPHA:329308 biolink:NamedThing|biolink:Disease Fatty acid hydroxylase-associated neurodegeneration orphanet.nt owl:Class !/hgnc_id/HGNC:3468 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4942 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2190 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6122 biolink:NamedThing orphanet.nt ORPHA:574918 biolink:NamedThing|biolink:Disease Predisposition to severe viral infection due to IRF7 deficiency orphanet.nt owl:Class ORPHA:15 biolink:NamedThing|biolink:Disease Achondroplasia orphanet.nt owl:Class ORPHA:566396 biolink:NamedThing|biolink:Disease Chronic mast cell leukemia orphanet.nt owl:Class !/hgnc_id/HGNC:19750 biolink:NamedThing orphanet.nt ORPHA:436252 biolink:NamedThing|biolink:Disease Combined immunodeficiency-enteropathy spectrum orphanet.nt owl:Class ORPHA:261229 biolink:NamedThing|biolink:Disease 14q11.2 microduplication syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:3255 biolink:NamedThing orphanet.nt ORPHA:1667 biolink:NamedThing|biolink:Disease Wolcott-Rallison syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:4888 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3092 biolink:NamedThing orphanet.nt ORPHA:1519 biolink:NamedThing|biolink:Disease SPECC1L-related hypertelorism syndrome orphanet.nt owl:Class ORPHA:280628 biolink:NamedThing|biolink:Disease Familial progressive hyper- and hypopigmentation orphanet.nt owl:Class !/hgnc_id/HGNC:8960 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4931 biolink:NamedThing orphanet.nt ORPHA:179 biolink:NamedThing|biolink:Disease Birdshot chorioretinopathy orphanet.nt owl:Class !/hgnc_id/HGNC:6297 biolink:NamedThing orphanet.nt ORPHA:1949 biolink:NamedThing|biolink:Disease Benign familial neonatal epilepsy orphanet.nt owl:Class ORPHA:380 biolink:NamedThing|biolink:Disease Greig cephalopolysyndactyly syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:29669 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4551 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:28449 biolink:NamedThing orphanet.nt ORPHA:251636 biolink:NamedThing|biolink:Disease Ependymoma orphanet.nt owl:Class !/hgnc_id/HGNC:6112 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7611 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:23228 biolink:NamedThing orphanet.nt ORPHA:519388 biolink:NamedThing|biolink:Disease Autosomal recessive anterior segment dysgenesis orphanet.nt owl:Class !/hgnc_id/HGNC:24539 biolink:NamedThing orphanet.nt ORPHA:397735 biolink:NamedThing|biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2U orphanet.nt owl:Class !/hgnc_id/HGNC:2555 biolink:NamedThing orphanet.nt ORPHA:85293 biolink:NamedThing|biolink:Disease X-linked intellectual disability, Cabezas type orphanet.nt owl:Class !/hgnc_id/HGNC:19706 biolink:NamedThing orphanet.nt ORPHA:1885 biolink:NamedThing|biolink:Disease Isolated ectopia lentis orphanet.nt owl:Class !/hgnc_id/HGNC:6493 biolink:NamedThing orphanet.nt ORPHA:96266 biolink:NamedThing|biolink:Disease Leydig cell hypoplasia due to partial LH resistance orphanet.nt owl:Class ORPHA:391343 biolink:NamedThing|biolink:Disease Fatal post-viral neurodegenerative disorder orphanet.nt owl:Class !/hgnc_id/HGNC:2500 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2578 biolink:NamedThing orphanet.nt ORPHA:319623 biolink:NamedThing|biolink:Disease X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:6936 biolink:NamedThing orphanet.nt ORPHA:6 biolink:NamedThing|biolink:Disease 3-methylcrotonyl-CoA carboxylase deficiency orphanet.nt owl:Class ORPHA:391641 biolink:NamedThing|biolink:Disease Feingold syndrome type 1 orphanet.nt owl:Class !/hgnc_id/HGNC:4659 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3057 biolink:NamedThing orphanet.nt ORPHA:140917 biolink:NamedThing|biolink:Disease Stapes ankylosis with broad thumbs and toes orphanet.nt owl:Class ORPHA:663 biolink:NamedThing|biolink:Disease Mitochondrial DNA-related progressive external ophthalmoplegia orphanet.nt owl:Class !/hgnc_id/HGNC:5351 biolink:NamedThing orphanet.nt ORPHA:169808 biolink:NamedThing|biolink:Disease Mild hemophilia A orphanet.nt owl:Class !/hgnc_id/HGNC:2330 biolink:NamedThing orphanet.nt ORPHA:228302 biolink:NamedThing|biolink:Disease Carnitine palmitoyl transferase II deficiency, myopathic form orphanet.nt owl:Class !/hgnc_id/HGNC:23147 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:24725 biolink:NamedThing orphanet.nt ORPHA:93325 biolink:NamedThing|biolink:Disease Autosomal dominant Kenny-Caffey syndrome orphanet.nt owl:Class ORPHA:79409 biolink:NamedThing|biolink:Disease Recessive dystrophic epidermolysis bullosa inversa orphanet.nt owl:Class !/hgnc_id/HGNC:37212 biolink:NamedThing orphanet.nt ORPHA:71517 biolink:NamedThing|biolink:Disease Rapid-onset dystonia-parkinsonism orphanet.nt owl:Class ORPHA:293144 biolink:NamedThing|biolink:Disease Familial clubfoot due to 5q31 microdeletion orphanet.nt owl:Class !/hgnc_id/HGNC:9154 biolink:NamedThing orphanet.nt ORPHA:101101 biolink:NamedThing|biolink:Disease Charcot-Marie-Tooth disease type 2B2 orphanet.nt owl:Class !/hgnc_id/HGNC:26521 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:26582 biolink:NamedThing orphanet.nt ORPHA:93406 biolink:NamedThing|biolink:Disease Syndactyly type 5 orphanet.nt owl:Class ORPHA:31112 biolink:NamedThing|biolink:Disease Dermatofibrosarcoma protuberans orphanet.nt owl:Class !/hgnc_id/HGNC:24624 biolink:NamedThing orphanet.nt ORPHA:559 biolink:NamedThing|biolink:Disease Marinesco-Sjögren syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:2989 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:28569 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6524 biolink:NamedThing orphanet.nt ORPHA:280142 biolink:NamedThing|biolink:Disease Severe combined immunodeficiency due to LCK deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:282 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2877 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4635 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6947 biolink:NamedThing orphanet.nt ORPHA:75391 biolink:NamedThing|biolink:Disease Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency orphanet.nt owl:Class !/hgnc_id/HGNC:7104 biolink:NamedThing orphanet.nt ORPHA:478049 biolink:NamedThing|biolink:Disease Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome orphanet.nt owl:Class ORPHA:63273 biolink:NamedThing|biolink:Disease Distal 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biolink:NamedThing orphanet.nt ORPHA:480491 biolink:NamedThing|biolink:Disease MYO5B-related progressive familial intrahepatic cholestasis orphanet.nt owl:Class ORPHA:293165 biolink:NamedThing|biolink:Disease Skin fragility-woolly hair-palmoplantar keratoderma syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:4440 biolink:NamedThing orphanet.nt ORPHA:353298 biolink:NamedThing|biolink:Disease Roifman syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:6545 biolink:NamedThing orphanet.nt ORPHA:263508 biolink:NamedThing|biolink:Disease COG1-CDG orphanet.nt owl:Class !/hgnc_id/HGNC:610 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:21143 biolink:NamedThing orphanet.nt ORPHA:397758 biolink:NamedThing|biolink:Disease Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies orphanet.nt owl:Class !/hgnc_id/HGNC:21033 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6637 biolink:NamedThing orphanet.nt ORPHA:99027 biolink:NamedThing|biolink:Disease Adult-onset autosomal dominant leukodystrophy orphanet.nt owl:Class !/hgnc_id/HGNC:2027 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7632 biolink:NamedThing orphanet.nt ORPHA:79270 biolink:NamedThing|biolink:Disease Sanfilippo syndrome type B orphanet.nt owl:Class !/hgnc_id/HGNC:5465 biolink:NamedThing orphanet.nt ORPHA:73273 biolink:NamedThing|biolink:Disease Growth delay due to insulin-like growth factor I resistance orphanet.nt owl:Class !/hgnc_id/HGNC:7027 biolink:NamedThing orphanet.nt ORPHA:289857 biolink:NamedThing|biolink:Disease Neonatal glycine encephalopathy orphanet.nt owl:Class !/hgnc_id/HGNC:6181 biolink:NamedThing orphanet.nt ORPHA:468666 biolink:NamedThing|biolink:Disease Isolated generalized anhidrosis with normal sweat glands orphanet.nt owl:Class !/hgnc_id/HGNC:3430 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:24488 biolink:NamedThing orphanet.nt ORPHA:314394 biolink:NamedThing|biolink:Disease Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:9117 biolink:NamedThing orphanet.nt ORPHA:476394 biolink:NamedThing|biolink:Disease PMP2-related Charcot-Marie-Tooth disease type 1 orphanet.nt owl:Class !/hgnc_id/HGNC:4266 biolink:NamedThing orphanet.nt ORPHA:231671 biolink:NamedThing|biolink:Disease Isolated growth hormone deficiency type IB orphanet.nt owl:Class !/hgnc_id/HGNC:9816 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4588 biolink:NamedThing orphanet.nt ORPHA:98832 biolink:NamedThing|biolink:Disease Acute myeloid leukemia with minimal differentiation orphanet.nt owl:Class !/hgnc_id/HGNC:9142 biolink:NamedThing orphanet.nt ORPHA:990 biolink:NamedThing|biolink:Disease Agnathia-holoprosencephaly-situs inversus syndrome orphanet.nt owl:Class ORPHA:449291 biolink:NamedThing|biolink:Disease Symptomatic form of fragile X syndrome in female carrier orphanet.nt owl:Class ORPHA:309271 biolink:NamedThing|biolink:Disease Metachromatic leukodystrophy, adult form orphanet.nt owl:Class !/hgnc_id/HGNC:7103 biolink:NamedThing orphanet.nt ORPHA:726 biolink:NamedThing|biolink:Disease Alpers-Huttenlocher syndrome orphanet.nt owl:Class ORPHA:261629 biolink:NamedThing|biolink:Disease Alagille syndrome due to a NOTCH2 point mutation orphanet.nt owl:Class ORPHA:295239 biolink:NamedThing|biolink:Disease Macrodactyly of fingers, unilateral orphanet.nt owl:Class ORPHA:3163 biolink:NamedThing|biolink:Disease SHORT syndrome orphanet.nt owl:Class ORPHA:93387 biolink:NamedThing|biolink:Disease Brachydactyly type E orphanet.nt owl:Class ORPHA:465508 biolink:NamedThing|biolink:Disease Symptomatic form of hemochromatosis type 1 orphanet.nt owl:Class ORPHA:3021 biolink:NamedThing|biolink:Disease RAPADILINO syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:7685 biolink:NamedThing orphanet.nt ORPHA:569248 biolink:NamedThing|biolink:Disease Microcystic stromal tumor orphanet.nt owl:Class !/hgnc_id/HGNC:1971 biolink:NamedThing orphanet.nt ORPHA:263463 biolink:NamedThing|biolink:Disease CHST3-related skeletal dysplasia orphanet.nt owl:Class !/hgnc_id/HGNC:6024 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:1974 biolink:NamedThing orphanet.nt ORPHA:465824 biolink:NamedThing|biolink:Disease Fetal encasement syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:2553 biolink:NamedThing orphanet.nt ORPHA:300530 biolink:NamedThing|biolink:Disease Pseudohypoaldosteronism type 2E orphanet.nt owl:Class ORPHA:436274 biolink:NamedThing|biolink:Disease Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa orphanet.nt owl:Class !/hgnc_id/HGNC:22082 biolink:NamedThing orphanet.nt ORPHA:25980 biolink:NamedThing|biolink:Disease X-linked myopathy with excessive autophagy orphanet.nt owl:Class ORPHA:206448 biolink:NamedThing|biolink:Disease Adult Krabbe disease orphanet.nt owl:Class ORPHA:79146 biolink:NamedThing|biolink:Disease Familial progressive hyperpigmentation orphanet.nt owl:Class ORPHA:178338 biolink:NamedThing|biolink:Disease UV-sensitive syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:6783 biolink:NamedThing orphanet.nt ORPHA:459056 biolink:NamedThing|biolink:Disease Autosomal recessive spastic paraplegia type 75 orphanet.nt owl:Class !/hgnc_id/HGNC:7128 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:591 biolink:NamedThing orphanet.nt ORPHA:52417 biolink:NamedThing|biolink:Disease MALT lymphoma orphanet.nt owl:Class !/hgnc_id/HGNC:4189 biolink:NamedThing orphanet.nt ORPHA:25 biolink:NamedThing|biolink:Disease Glutaryl-CoA dehydrogenase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:25576 biolink:NamedThing orphanet.nt ORPHA:555402 biolink:NamedThing|biolink:Disease NAD(P)HX dehydratase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:2591 biolink:NamedThing orphanet.nt ORPHA:403 biolink:NamedThing|biolink:Disease Familial hyperaldosteronism type I orphanet.nt owl:Class !/hgnc_id/HGNC:2219 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:22788 biolink:NamedThing orphanet.nt ORPHA:2380 biolink:NamedThing|biolink:Disease Legg-Calvé-Perthes disease 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biolink:NamedThing|biolink:Disease Short stature-pituitary and cerebellar defects-small sella turcica syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:28086 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6553 biolink:NamedThing orphanet.nt ORPHA:66628 biolink:NamedThing|biolink:Disease Obesity due to congenital leptin deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:29666 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:21641 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6848 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29182 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:21876 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:20580 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:26594 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4232 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7414 biolink:NamedThing orphanet.nt ORPHA:320360 biolink:NamedThing|biolink:Disease MT-ATP6-related mitochondrial spastic paraplegia orphanet.nt owl:Class ORPHA:308712 biolink:NamedThing|biolink:Disease Glycogen storage 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ORPHA:504530 biolink:NamedThing|biolink:Disease Combined immunodeficiency due to Moesin deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:3481 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:592 biolink:NamedThing orphanet.nt ORPHA:538934 biolink:NamedThing|biolink:Disease X-linked lymphoproliferative disease due to XIAP deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:7470 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2962 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:23213 biolink:NamedThing orphanet.nt ORPHA:3144 biolink:NamedThing|biolink:Disease Schneckenbecken dysplasia orphanet.nt owl:Class !/hgnc_id/HGNC:2267 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:496 biolink:NamedThing orphanet.nt ORPHA:1401 biolink:NamedThing|biolink:Disease CHAND syndrome orphanet.nt owl:Class ORPHA:1880 biolink:NamedThing|biolink:Disease Ebstein malformation of the tricuspid valve orphanet.nt owl:Class !/hgnc_id/HGNC:30492 biolink:NamedThing orphanet.nt ORPHA:274 biolink:NamedThing|biolink:Disease Bernard-Soulier syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:20444 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9461 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29131 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:5056 biolink:NamedThing orphanet.nt ORPHA:86815 biolink:NamedThing|biolink:Disease Aplasia of lacrimal and salivary glands orphanet.nt owl:Class !/hgnc_id/HGNC:2568 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29521 biolink:NamedThing orphanet.nt ORPHA:1777 biolink:NamedThing|biolink:Disease Temtamy syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:2592 biolink:NamedThing orphanet.nt ORPHA:427 biolink:NamedThing|biolink:Disease Familial hypoaldosteronism orphanet.nt owl:Class !/hgnc_id/HGNC:34399 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9975 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:37 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7608 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6938 biolink:NamedThing orphanet.nt ORPHA:98969 biolink:NamedThing|biolink:Disease Macular corneal dystrophy orphanet.nt owl:Class !/hgnc_id/HGNC:25382 biolink:NamedThing orphanet.nt ORPHA:227976 biolink:NamedThing|biolink:Disease Autosomal recessive optic atrophy, OPA7 type orphanet.nt owl:Class !/hgnc_id/HGNC:24249 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3677 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:20761 biolink:NamedThing orphanet.nt ORPHA:100996 biolink:NamedThing|biolink:Disease Autosomal recessive spastic paraplegia type 15 orphanet.nt owl:Class !/hgnc_id/HGNC:21014 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:25608 biolink:NamedThing orphanet.nt ORPHA:231249 biolink:NamedThing|biolink:Disease Hemoglobin E-beta-thalassemia syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:30764 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:23785 biolink:NamedThing orphanet.nt ORPHA:98970 biolink:NamedThing|biolink:Disease Fleck corneal dystrophy orphanet.nt owl:Class !/hgnc_id/HGNC:359 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9988 biolink:NamedThing orphanet.nt ORPHA:572 biolink:NamedThing|biolink:Disease Immunodeficiency by defective expression of MHC class II orphanet.nt owl:Class !/hgnc_id/HGNC:2023 biolink:NamedThing orphanet.nt ORPHA:93622 biolink:NamedThing|biolink:Disease Dent disease type 1 orphanet.nt owl:Class !/hgnc_id/HGNC:30343 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9831 biolink:NamedThing orphanet.nt ORPHA:331206 biolink:NamedThing|biolink:Disease Severe combined immunodeficiency due to complete RAG1/2 deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:2843 biolink:NamedThing orphanet.nt ORPHA:364043 biolink:NamedThing|biolink:Disease ALK-positive large B-cell lymphoma orphanet.nt owl:Class !/hgnc_id/HGNC:21043 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7193 biolink:NamedThing orphanet.nt ORPHA:308393 biolink:NamedThing|biolink:Disease Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B orphanet.nt owl:Class !/hgnc_id/HGNC:1960 biolink:NamedThing orphanet.nt ORPHA:199318 biolink:NamedThing|biolink:Disease 15q13.3 microdeletion syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:6293 biolink:NamedThing orphanet.nt ORPHA:459033 biolink:NamedThing|biolink:Disease Ataxia-oculomotor apraxia type 4 orphanet.nt owl:Class !/hgnc_id/HGNC:4082 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29174 biolink:NamedThing orphanet.nt ORPHA:2122 biolink:NamedThing|biolink:Disease Kaposiform hemangioendothelioma orphanet.nt owl:Class ORPHA:751 biolink:NamedThing|biolink:Disease NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:20041 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:20800 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:888 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:23015 biolink:NamedThing orphanet.nt ORPHA:1031 biolink:NamedThing|biolink:Disease Enamel-renal syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:30000 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:21296 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4462 biolink:NamedThing orphanet.nt ORPHA:319635 biolink:NamedThing|biolink:Disease Amyloidosis cutis dyschromia orphanet.nt owl:Class !/hgnc_id/HGNC:21729 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:24502 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6631 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7713 biolink:NamedThing orphanet.nt ORPHA:168624 biolink:NamedThing|biolink:Disease Familial scaphocephaly syndrome, McGillivray type orphanet.nt owl:Class !/hgnc_id/HGNC:4704 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3151 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:8086 biolink:NamedThing orphanet.nt ORPHA:572428 biolink:NamedThing|biolink:Disease Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia orphanet.nt owl:Class !/hgnc_id/HGNC:20151 biolink:NamedThing orphanet.nt ORPHA:284130 biolink:NamedThing|biolink:Disease NON RARE IN EUROPE: Rheumatoid arthritis orphanet.nt owl:Class !/hgnc_id/HGNC:23319 biolink:NamedThing orphanet.nt ORPHA:2662 biolink:NamedThing|biolink:Disease Keipert syndrome orphanet.nt owl:Class ORPHA:64739 biolink:NamedThing|biolink:Disease Ovarian hyperstimulation syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:30765 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29450 biolink:NamedThing orphanet.nt ORPHA:370002 biolink:NamedThing|biolink:Disease Focal palmoplantar keratoderma with joint keratoses orphanet.nt owl:Class !/hgnc_id/HGNC:28287 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:20716 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7218 biolink:NamedThing orphanet.nt ORPHA:2587 biolink:NamedThing|biolink:Disease Myeloperoxidase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:20311 biolink:NamedThing orphanet.nt ORPHA:300573 biolink:NamedThing|biolink:Disease Polymicrogyria due to TUBB2B mutation orphanet.nt owl:Class ORPHA:85166 biolink:NamedThing|biolink:Disease Platyspondylic dysplasia, Torrance type orphanet.nt owl:Class !/hgnc_id/HGNC:9051 biolink:NamedThing orphanet.nt ORPHA:480528 biolink:NamedThing|biolink:Disease Lethal hydranencephaly-diaphragmatic hernia syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:2867 biolink:NamedThing orphanet.nt ORPHA:246 biolink:NamedThing|biolink:Disease Postaxial acrofacial dysostosis orphanet.nt owl:Class ORPHA:1986 biolink:NamedThing|biolink:Disease Gollop-Wolfgang complex orphanet.nt owl:Class !/hgnc_id/HGNC:7471 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6447 biolink:NamedThing orphanet.nt ORPHA:1272 biolink:NamedThing|biolink:Disease Aymé-Gripp syndrome orphanet.nt owl:Class ORPHA:79476 biolink:NamedThing|biolink:Disease Griscelli syndrome type 1 orphanet.nt owl:Class !/hgnc_id/HGNC:2953 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9210 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:756 biolink:NamedThing orphanet.nt ORPHA:314911 biolink:NamedThing|biolink:Disease Severe Canavan disease orphanet.nt owl:Class !/hgnc_id/HGNC:2187 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3942 biolink:NamedThing orphanet.nt ORPHA:53698 biolink:NamedThing|biolink:Disease Hyaline body myopathy orphanet.nt owl:Class ORPHA:99105 biolink:NamedThing|biolink:Disease Atrial septal defect, sinus venosus type orphanet.nt owl:Class ORPHA:98805 biolink:NamedThing|biolink:Disease Primary dystonia, DYT4 type orphanet.nt owl:Class !/hgnc_id/HGNC:567 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:31371 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:26113 biolink:NamedThing orphanet.nt ORPHA:98895 biolink:NamedThing|biolink:Disease Becker muscular dystrophy orphanet.nt owl:Class !/hgnc_id/HGNC:6444 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:8104 biolink:NamedThing orphanet.nt ORPHA:1229 biolink:NamedThing|biolink:Disease Congenital intrauterine infection-like syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:26513 biolink:NamedThing orphanet.nt ORPHA:300313 biolink:NamedThing|biolink:Disease Congenital cataract-hearing loss-severe developmental delay syndrome orphanet.nt owl:Class ORPHA:168947 biolink:NamedThing|biolink:Disease Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement orphanet.nt owl:Class !/hgnc_id/HGNC:24846 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4077 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3319 biolink:NamedThing orphanet.nt ORPHA:329903 biolink:NamedThing|biolink:Disease Immunoglobulin-mediated membranoproliferative glomerulonephritis orphanet.nt owl:Class ORPHA:2473 biolink:NamedThing|biolink:Disease McKusick-Kaufman syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:9119 biolink:NamedThing orphanet.nt ORPHA:569290 biolink:NamedThing|biolink:Disease Multiple mitochondrial dysfunctions syndrome type 6 orphanet.nt owl:Class ORPHA:560 biolink:NamedThing|biolink:Disease Marshall syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:27962 biolink:NamedThing orphanet.nt ORPHA:425120 biolink:NamedThing|biolink:Disease STING-associated vasculopathy with onset in infancy orphanet.nt owl:Class !/hgnc_id/HGNC:4832 biolink:NamedThing orphanet.nt ORPHA:280615 biolink:NamedThing|biolink:Disease Hemoglobinopathy Toms River orphanet.nt owl:Class ORPHA:352582 biolink:NamedThing|biolink:Disease Familial infantile myoclonic epilepsy orphanet.nt owl:Class !/hgnc_id/HGNC:9180 biolink:NamedThing orphanet.nt ORPHA:254704 biolink:NamedThing|biolink:Disease Genetic hyperferritinemia without iron overload orphanet.nt owl:Class !/hgnc_id/HGNC:319 biolink:NamedThing orphanet.nt ORPHA:435804 biolink:NamedThing|biolink:Disease Short stature-advanced bone age-early-onset osteoarthritis syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:29264 biolink:NamedThing orphanet.nt ORPHA:65684 biolink:NamedThing|biolink:Disease Monomelic amyotrophy orphanet.nt owl:Class !/hgnc_id/HGNC:28980 biolink:NamedThing orphanet.nt ORPHA:505227 biolink:NamedThing|biolink:Disease Combined immunodeficiency due to GINS1 deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:27302 biolink:NamedThing orphanet.nt ORPHA:363424 biolink:NamedThing|biolink:Disease Multiple mitochondrial dysfunctions syndrome type 3 orphanet.nt owl:Class !/hgnc_id/HGNC:24116 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:24529 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6309 biolink:NamedThing orphanet.nt ORPHA:53691 biolink:NamedThing|biolink:Disease Congenital cornea plana orphanet.nt owl:Class ORPHA:284232 biolink:NamedThing|biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2O orphanet.nt owl:Class !/hgnc_id/HGNC:28952 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7468 biolink:NamedThing orphanet.nt ORPHA:2170 biolink:NamedThing|biolink:Disease Methylcobalamin deficiency type cblG orphanet.nt owl:Class !/hgnc_id/HGNC:7159 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:23230 biolink:NamedThing orphanet.nt ORPHA:2500 biolink:NamedThing|biolink:Disease Acrogeria orphanet.nt owl:Class ORPHA:263455 biolink:NamedThing|biolink:Disease Hyperinsulinism due to HNF4A deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:6485 biolink:NamedThing orphanet.nt ORPHA:521450 biolink:NamedThing|biolink:Disease LAMA5-related multisystemic syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:30212 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:25566 biolink:NamedThing orphanet.nt ORPHA:404440 biolink:NamedThing|biolink:Disease Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency orphanet.nt owl:Class !/hgnc_id/HGNC:9826 biolink:NamedThing orphanet.nt ORPHA:734 biolink:NamedThing|biolink:Disease Alpha delta granule deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:4117 biolink:NamedThing orphanet.nt ORPHA:101006 biolink:NamedThing|biolink:Disease Autosomal recessive spastic paraplegia type 26 orphanet.nt owl:Class !/hgnc_id/HGNC:6764 biolink:NamedThing orphanet.nt ORPHA:319705 biolink:NamedThing|biolink:Disease NON RARE IN EUROPE: Parkinson disease orphanet.nt owl:Class !/hgnc_id/HGNC:7491 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29918 biolink:NamedThing orphanet.nt ORPHA:69663 biolink:NamedThing|biolink:Disease Low phospholipid-associated cholelithiasis orphanet.nt owl:Class ORPHA:99810 biolink:NamedThing|biolink:Disease Familial porencephaly orphanet.nt owl:Class !/hgnc_id/HGNC:7146 biolink:NamedThing orphanet.nt ORPHA:556985 biolink:NamedThing|biolink:Disease Early-onset calcifying leukoencephalopathy-skeletal dysplasia orphanet.nt owl:Class !/hgnc_id/HGNC:6292 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:33778 biolink:NamedThing orphanet.nt ORPHA:1358 biolink:NamedThing|biolink:Disease Carey-Fineman-Ziter syndrome orphanet.nt owl:Class ORPHA:93296 biolink:NamedThing|biolink:Disease Achondrogenesis type 2 orphanet.nt owl:Class !/hgnc_id/HGNC:7599 biolink:NamedThing orphanet.nt ORPHA:251365 biolink:NamedThing|biolink:Disease Sickle cell-hemoglobin C disease syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:29136 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7871 biolink:NamedThing orphanet.nt ORPHA:466791 biolink:NamedThing|biolink:Disease Macrocephaly-intellectual disability-left ventricular non compaction syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:31648 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biolink:NamedThing|biolink:Disease Glycogen storage disease due to LAMP-2 deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:25784 biolink:NamedThing orphanet.nt ORPHA:3464 biolink:NamedThing|biolink:Disease Woodhouse-Sakati syndrome orphanet.nt owl:Class ORPHA:2348 biolink:NamedThing|biolink:Disease Familial partial lipodystrophy, Dunnigan type orphanet.nt owl:Class !/hgnc_id/HGNC:7794 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29099 biolink:NamedThing orphanet.nt ORPHA:488642 biolink:NamedThing|biolink:Disease TELO2-related intellectual disability-neurodevelopmental disorder orphanet.nt owl:Class !/hgnc_id/HGNC:6023 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29929 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4512 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29420 biolink:NamedThing orphanet.nt ORPHA:457395 biolink:NamedThing|biolink:Disease Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:3964 biolink:NamedThing orphanet.nt ORPHA:52901 biolink:NamedThing|biolink:Disease Isolated follicle stimulating hormone deficiency orphanet.nt owl:Class ORPHA:443950 biolink:NamedThing|biolink:Disease DNAJB2-related Charcot-Marie-Tooth disease type 2 orphanet.nt owl:Class !/hgnc_id/HGNC:24592 biolink:NamedThing orphanet.nt ORPHA:300298 biolink:NamedThing|biolink:Disease Severe congenital hypochromic anemia with ringed sideroblasts orphanet.nt owl:Class !/hgnc_id/HGNC:26348 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:30391 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29941 biolink:NamedThing orphanet.nt ORPHA:241 biolink:NamedThing|biolink:Disease Dyschromatosis universalis hereditaria orphanet.nt owl:Class ORPHA:965 biolink:NamedThing|biolink:Disease Acromegaloid facial appearance syndrome orphanet.nt owl:Class ORPHA:314662 biolink:NamedThing|biolink:Disease Segmental progressive overgrowth syndrome with fibroadipose hyperplasia orphanet.nt owl:Class !/hgnc_id/HGNC:4006 biolink:NamedThing orphanet.nt ORPHA:349 biolink:NamedThing|biolink:Disease Fucosidosis orphanet.nt owl:Class ORPHA:140908 biolink:NamedThing|biolink:Disease Brachydactyly type B2 orphanet.nt owl:Class !/hgnc_id/HGNC:8619 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2927 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:30550 biolink:NamedThing orphanet.nt ORPHA:325 biolink:NamedThing|biolink:Disease Congenital factor II deficiency orphanet.nt owl:Class ORPHA:90647 biolink:NamedThing|biolink:Disease Jervell and Lange-Nielsen syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:923 biolink:NamedThing orphanet.nt ORPHA:284139 biolink:NamedThing|biolink:Disease Larsen-like syndrome, B3GAT3 type orphanet.nt owl:Class ORPHA:2028 biolink:NamedThing|biolink:Disease Juvenile hyaline fibromatosis orphanet.nt owl:Class !/hgnc_id/HGNC:6768 biolink:NamedThing orphanet.nt ORPHA:447877 biolink:NamedThing|biolink:Disease Polymerase proofreading-related adenomatous polyposis orphanet.nt 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ORPHA:423306 biolink:NamedThing|biolink:Disease Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:8808 biolink:NamedThing orphanet.nt ORPHA:255138 biolink:NamedThing|biolink:Disease Pyruvate dehydrogenase E1-beta deficiency orphanet.nt owl:Class ORPHA:98988 biolink:NamedThing|biolink:Disease Early-onset anterior polar cataract orphanet.nt owl:Class !/hgnc_id/HGNC:20509 biolink:NamedThing orphanet.nt ORPHA:2202 biolink:NamedThing|biolink:Disease Palmoplantar keratoderma-deafness syndrome orphanet.nt owl:Class ORPHA:79304 biolink:NamedThing|biolink:Disease Progressive familial intrahepatic cholestasis type 2 orphanet.nt owl:Class !/hgnc_id/HGNC:5028 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4236 biolink:NamedThing orphanet.nt ORPHA:330054 biolink:NamedThing|biolink:Disease Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome orphanet.nt owl:Class ORPHA:231237 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!/hgnc_id/HGNC:5439 biolink:NamedThing orphanet.nt ORPHA:99898 biolink:NamedThing|biolink:Disease Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:9059 biolink:NamedThing orphanet.nt ORPHA:14 biolink:NamedThing|biolink:Disease Abetalipoproteinemia orphanet.nt owl:Class !/hgnc_id/HGNC:20202 biolink:NamedThing orphanet.nt ORPHA:3377 biolink:NamedThing|biolink:Disease Trismus-pseudocamptodactyly syndrome orphanet.nt owl:Class ORPHA:329217 biolink:NamedThing|biolink:Disease Cerebral sinovenous thrombosis orphanet.nt owl:Class !/hgnc_id/HGNC:8785 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7460 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9603 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:21869 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:26401 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:22993 biolink:NamedThing orphanet.nt ORPHA:101004 biolink:NamedThing|biolink:Disease Autosomal recessive spastic paraplegia 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Mild hemophilia B orphanet.nt owl:Class !/hgnc_id/HGNC:19849 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3431 biolink:NamedThing orphanet.nt ORPHA:137776 biolink:NamedThing|biolink:Disease Lethal congenital contracture syndrome type 2 orphanet.nt owl:Class !/hgnc_id/HGNC:4881 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:21246 biolink:NamedThing orphanet.nt ORPHA:2969 biolink:NamedThing|biolink:Disease Proteus-like syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:8079 biolink:NamedThing orphanet.nt ORPHA:651 biolink:NamedThing|biolink:Disease NON RARE IN EUROPE: Idiopathic infantile nystagmus orphanet.nt owl:Class !/hgnc_id/HGNC:3424 biolink:NamedThing orphanet.nt ORPHA:244275 biolink:NamedThing|biolink:Disease De novo thrombotic microangiopathy after kidney transplantation orphanet.nt owl:Class ORPHA:46532 biolink:NamedThing|biolink:Disease Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:33280 biolink:NamedThing orphanet.nt ORPHA:251375 biolink:NamedThing|biolink:Disease Sickle cell-hemoglobin E disease syndrome orphanet.nt owl:Class ORPHA:217371 biolink:NamedThing|biolink:Disease Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins orphanet.nt owl:Class !/hgnc_id/HGNC:24464 biolink:NamedThing orphanet.nt ORPHA:329258 biolink:NamedThing|biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2Q orphanet.nt owl:Class !/hgnc_id/HGNC:2707 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:391 biolink:NamedThing orphanet.nt ORPHA:75840 biolink:NamedThing|biolink:Disease Congenital muscular dystrophy, Ullrich type orphanet.nt owl:Class !/hgnc_id/HGNC:406 biolink:NamedThing orphanet.nt ORPHA:79101 biolink:NamedThing|biolink:Disease Hyperprolinemia type 2 orphanet.nt owl:Class !/hgnc_id/HGNC:8805 biolink:NamedThing orphanet.nt ORPHA:198 biolink:NamedThing|biolink:Disease Occipital horn syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:6888 biolink:NamedThing orphanet.nt ORPHA:466718 biolink:NamedThing|biolink:Disease Martinique crinkled retinal pigment epitheliopathy orphanet.nt owl:Class ORPHA:79243 biolink:NamedThing|biolink:Disease Pyruvate dehydrogenase E1-alpha deficiency orphanet.nt owl:Class ORPHA:79256 biolink:NamedThing|biolink:Disease GM1 gangliosidosis type 2 orphanet.nt owl:Class ORPHA:98863 biolink:NamedThing|biolink:Disease X-linked Emery-Dreifuss muscular dystrophy orphanet.nt owl:Class !/hgnc_id/HGNC:29277 biolink:NamedThing orphanet.nt ORPHA:71289 biolink:NamedThing|biolink:Disease Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:23505 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:19684 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4798 biolink:NamedThing orphanet.nt ORPHA:3412 biolink:NamedThing|biolink:Disease VACTERL with hydrocephalus orphanet.nt owl:Class ORPHA:79444 biolink:NamedThing|biolink:Disease Pseudohypoparathyroidism type 1C orphanet.nt owl:Class ORPHA:2698 biolink:NamedThing|biolink:Disease Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:9411 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6242 biolink:NamedThing orphanet.nt ORPHA:319524 biolink:NamedThing|biolink:Disease Combined oxidative phosphorylation defect type 15 orphanet.nt owl:Class !/hgnc_id/HGNC:3341 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7715 biolink:NamedThing orphanet.nt ORPHA:2499 biolink:NamedThing|biolink:Disease Metachondromatosis orphanet.nt owl:Class ORPHA:420561 biolink:NamedThing|biolink:Disease Temple-Baraitser syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:5125 biolink:NamedThing orphanet.nt ORPHA:280397 biolink:NamedThing|biolink:Disease Familial Alzheimer-like prion disease orphanet.nt owl:Class ORPHA:37612 biolink:NamedThing|biolink:Disease Episodic ataxia type 1 orphanet.nt owl:Class !/hgnc_id/HGNC:6052 biolink:NamedThing orphanet.nt ORPHA:79091 biolink:NamedThing|biolink:Disease Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome orphanet.nt owl:Class ORPHA:240112 biolink:NamedThing|biolink:Disease Progressive supranuclear palsy-progressive non-fluent aphasia syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:6315 biolink:NamedThing orphanet.nt ORPHA:2056 biolink:NamedThing|biolink:Disease Essential fructosuria orphanet.nt owl:Class !/hgnc_id/HGNC:6267 biolink:NamedThing orphanet.nt ORPHA:435628 biolink:NamedThing|biolink:Disease Keppen-Lubinsky syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:2452 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:559 biolink:NamedThing orphanet.nt ORPHA:171851 biolink:NamedThing|biolink:Disease MEDNIK syndrome orphanet.nt owl:Class ORPHA:324723 biolink:NamedThing|biolink:Disease ABeta amyloidosis, Arctic type orphanet.nt owl:Class !/hgnc_id/HGNC:9726 biolink:NamedThing orphanet.nt ORPHA:368 biolink:NamedThing|biolink:Disease Glycogen storage disease due to muscle glycogen phosphorylase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:24990 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3157 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29316 biolink:NamedThing orphanet.nt ORPHA:1827 biolink:NamedThing|biolink:Disease Acromelic frontonasal dysplasia orphanet.nt owl:Class !/hgnc_id/HGNC:25151 biolink:NamedThing orphanet.nt ORPHA:363528 biolink:NamedThing|biolink:Disease Intellectual disability-strabismus syndrome orphanet.nt owl:Class ORPHA:309252 biolink:NamedThing|biolink:Disease Atypical Gaucher disease due to saposin C deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:6365 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6484 biolink:NamedThing orphanet.nt ORPHA:503 biolink:NamedThing|biolink:Disease Larsen syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:23247 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4837 biolink:NamedThing orphanet.nt ORPHA:2556 biolink:NamedThing|biolink:Disease Microphthalmia with linear skin defects syndrome orphanet.nt owl:Class ORPHA:98916 biolink:NamedThing|biolink:Disease Acute inflammatory demyelinating polyradiculoneuropathy orphanet.nt owl:Class !/hgnc_id/HGNC:2976 biolink:NamedThing orphanet.nt ORPHA:314404 biolink:NamedThing|biolink:Disease Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:21390 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:791 biolink:NamedThing orphanet.nt ORPHA:369847 biolink:NamedThing|biolink:Disease Intellectual disability-hyperkinetic movement-truncal ataxia syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:25712 biolink:NamedThing orphanet.nt ORPHA:401820 biolink:NamedThing|biolink:Disease Autosomal recessive spastic paraplegia type 67 orphanet.nt owl:Class !/hgnc_id/HGNC:333 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4562 biolink:NamedThing orphanet.nt ORPHA:137675 biolink:NamedThing|biolink:Disease Histiocytoid cardiomyopathy orphanet.nt owl:Class !/hgnc_id/HGNC:3033 biolink:NamedThing orphanet.nt ORPHA:101 biolink:NamedThing|biolink:Disease Dentatorubral pallidoluysian atrophy orphanet.nt owl:Class !/hgnc_id/HGNC:28984 biolink:NamedThing orphanet.nt ORPHA:100989 biolink:NamedThing|biolink:Disease Autosomal dominant spastic paraplegia type 8 orphanet.nt owl:Class !/hgnc_id/HGNC:25980 biolink:NamedThing orphanet.nt ORPHA:391320 biolink:NamedThing|biolink:Disease East Texas bleeding disorder orphanet.nt owl:Class !/hgnc_id/HGNC:7908 biolink:NamedThing orphanet.nt ORPHA:839 biolink:NamedThing|biolink:Disease Congenital nephrotic syndrome, Finnish type orphanet.nt owl:Class !/hgnc_id/HGNC:2705 biolink:NamedThing orphanet.nt ORPHA:101068 biolink:NamedThing|biolink:Disease Congenital stromal corneal dystrophy orphanet.nt owl:Class !/hgnc_id/HGNC:28422 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:5208 biolink:NamedThing orphanet.nt ORPHA:168588 biolink:NamedThing|biolink:Disease Hyperandrogenism due to cortisone reductase deficiency orphanet.nt owl:Class ORPHA:314918 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Charcot-Marie-Tooth disease type B orphanet.nt owl:Class ORPHA:1154 biolink:NamedThing|biolink:Disease Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:31555 biolink:NamedThing orphanet.nt ORPHA:293936 biolink:NamedThing|biolink:Disease EDICT syndrome orphanet.nt owl:Class ORPHA:88619 biolink:NamedThing|biolink:Disease Familial acute necrotizing encephalopathy orphanet.nt owl:Class !/hgnc_id/HGNC:29659 biolink:NamedThing orphanet.nt ORPHA:1762 biolink:NamedThing|biolink:Disease Proximal Xq28 duplication syndrome orphanet.nt owl:Class ORPHA:231393 biolink:NamedThing|biolink:Disease Beta-thalassemia-X-linked thrombocytopenia syndrome orphanet.nt owl:Class ORPHA:399096 biolink:NamedThing|biolink:Disease Distal anoctaminopathy orphanet.nt owl:Class !/hgnc_id/HGNC:4893 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:25169 biolink:NamedThing orphanet.nt ORPHA:500188 biolink:NamedThing|biolink:Disease X-linked external auditory canal 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ORPHA:93599 biolink:NamedThing|biolink:Disease Primary hyperoxaluria type 2 orphanet.nt owl:Class !/hgnc_id/HGNC:25491 biolink:NamedThing orphanet.nt ORPHA:466688 biolink:NamedThing|biolink:Disease Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome orphanet.nt owl:Class ORPHA:157949 biolink:NamedThing|biolink:Disease Combined immunodeficiency with granulomatosis orphanet.nt owl:Class !/hgnc_id/HGNC:7704 biolink:NamedThing orphanet.nt ORPHA:85198 biolink:NamedThing|biolink:Disease Dysspondyloenchondromatosis orphanet.nt owl:Class ORPHA:90795 biolink:NamedThing|biolink:Disease Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:28845 biolink:NamedThing orphanet.nt ORPHA:464738 biolink:NamedThing|biolink:Disease Basel-Vanagaite-Smirin-Yosef syndrome orphanet.nt owl:Class ORPHA:498494 biolink:NamedThing|biolink:Disease Mirror-image polydactyly orphanet.nt owl:Class !/hgnc_id/HGNC:28880 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biolink:NamedThing|biolink:Disease Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:3647 biolink:NamedThing orphanet.nt ORPHA:79278 biolink:NamedThing|biolink:Disease Autosomal erythropoietic protoporphyria orphanet.nt owl:Class !/hgnc_id/HGNC:22474 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:28991 biolink:NamedThing orphanet.nt ORPHA:404499 biolink:NamedThing|biolink:Disease Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:29557 biolink:NamedThing orphanet.nt ORPHA:73229 biolink:NamedThing|biolink:Disease HANAC syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:33472 biolink:NamedThing orphanet.nt ORPHA:171612 biolink:NamedThing|biolink:Disease Autosomal dominant spastic paraplegia type 37 orphanet.nt owl:Class !/hgnc_id/HGNC:3776 biolink:NamedThing orphanet.nt ORPHA:93623 biolink:NamedThing|biolink:Disease Dent disease 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biolink:NamedThing orphanet.nt ORPHA:88637 biolink:NamedThing|biolink:Disease Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:4478 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2917 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:21637 biolink:NamedThing orphanet.nt ORPHA:251028 biolink:NamedThing|biolink:Disease SATB2-associated syndrome due to a chromosomal rearrangement orphanet.nt owl:Class !/hgnc_id/HGNC:3672 biolink:NamedThing orphanet.nt ORPHA:2498 biolink:NamedThing|biolink:Disease Syndactyly type 8 orphanet.nt owl:Class !/hgnc_id/HGNC:25009 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2888 biolink:NamedThing orphanet.nt ORPHA:90044 biolink:NamedThing|biolink:Disease Familial pseudohyperkalemia orphanet.nt owl:Class !/hgnc_id/HGNC:25006 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:25523 biolink:NamedThing orphanet.nt ORPHA:99807 biolink:NamedThing|biolink:Disease PEHO-like syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:2550 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biolink:NamedThing|biolink:Disease Incontinentia pigmenti orphanet.nt owl:Class !/hgnc_id/HGNC:29682 biolink:NamedThing orphanet.nt ORPHA:565624 biolink:NamedThing|biolink:Disease Combined oxidative phosphorylation defect type 39 orphanet.nt owl:Class !/hgnc_id/HGNC:1985 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:8008 biolink:NamedThing orphanet.nt ORPHA:600663 biolink:NamedThing|biolink:Disease NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance orphanet.nt owl:Class ORPHA:79455 biolink:NamedThing|biolink:Disease Cutaneous mastocytoma orphanet.nt owl:Class ORPHA:2763 biolink:NamedThing|biolink:Disease Osteocraniostenosis orphanet.nt owl:Class !/hgnc_id/HGNC:90 biolink:NamedThing orphanet.nt ORPHA:26792 biolink:NamedThing|biolink:Disease Short chain acyl-CoA dehydrogenase deficiency orphanet.nt owl:Class ORPHA:79351 biolink:NamedThing|biolink:Disease 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form 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biolink:NamedThing orphanet.nt ORPHA:166260 biolink:NamedThing|biolink:Disease Dentinogenesis imperfecta type 2 orphanet.nt owl:Class !/hgnc_id/HGNC:6299 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:20859 biolink:NamedThing orphanet.nt ORPHA:157965 biolink:NamedThing|biolink:Disease SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome orphanet.nt owl:Class ORPHA:221046 biolink:NamedThing|biolink:Disease Poikiloderma with neutropenia orphanet.nt owl:Class ORPHA:440427 biolink:NamedThing|biolink:Disease Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:29426 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7498 biolink:NamedThing orphanet.nt ORPHA:497906 biolink:NamedThing|biolink:Disease Childhood-onset basal ganglia degeneration syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:6392 biolink:NamedThing orphanet.nt ORPHA:98870 biolink:NamedThing|biolink:Disease Congenital dyserythropoietic anemia type III orphanet.nt owl:Class ORPHA:177926 biolink:NamedThing|biolink:Disease Bleeding disorder in hemophilia A carriers without FVIII deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:25636 biolink:NamedThing orphanet.nt ORPHA:1596 biolink:NamedThing|biolink:Disease Distal monosomy 15q orphanet.nt owl:Class !/hgnc_id/HGNC:7944 biolink:NamedThing orphanet.nt ORPHA:40 biolink:NamedThing|biolink:Disease Acromesomelic dysplasia, Maroteaux type orphanet.nt owl:Class !/hgnc_id/HGNC:20 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:5526 biolink:NamedThing orphanet.nt ORPHA:293978 biolink:NamedThing|biolink:Disease Deficiency in anterior pituitary function-variable immunodeficiency syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:8540 biolink:NamedThing orphanet.nt ORPHA:163721 biolink:NamedThing|biolink:Disease Rolandic epilepsy-speech dyspraxia syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:24212 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3703 biolink:NamedThing orphanet.nt ORPHA:163976 biolink:NamedThing|biolink:Disease X-linked intellectual disability, Van Esch type orphanet.nt owl:Class !/hgnc_id/HGNC:23168 biolink:NamedThing orphanet.nt ORPHA:98791 biolink:NamedThing|biolink:Disease Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 orphanet.nt owl:Class !/hgnc_id/HGNC:3330 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4861 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2946 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:26527 biolink:NamedThing orphanet.nt ORPHA:79271 biolink:NamedThing|biolink:Disease Sanfilippo syndrome type C orphanet.nt owl:Class !/hgnc_id/HGNC:6665 biolink:NamedThing orphanet.nt ORPHA:529819 biolink:NamedThing|biolink:Disease NON RARE IN EUROPE: Exfoliation syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:663 biolink:NamedThing orphanet.nt ORPHA:90 biolink:NamedThing|biolink:Disease Argininemia orphanet.nt owl:Class !/hgnc_id/HGNC:3954 biolink:NamedThing orphanet.nt ORPHA:90658 biolink:NamedThing|biolink:Disease Charcot-Marie-Tooth disease type 1E 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!/hgnc_id/HGNC:24650 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4679 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:970 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7711 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:19747 biolink:NamedThing orphanet.nt ORPHA:162 biolink:NamedThing|biolink:Disease Cataract-glaucoma syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:9211 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:8794 biolink:NamedThing orphanet.nt ORPHA:228169 biolink:NamedThing|biolink:Disease Autosomal dominant striatal neurodegeneration orphanet.nt owl:Class ORPHA:235 biolink:NamedThing|biolink:Disease Dubowitz syndrome orphanet.nt owl:Class ORPHA:79665 biolink:NamedThing|biolink:Disease Gardner syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:8725 biolink:NamedThing orphanet.nt ORPHA:2880 biolink:NamedThing|biolink:Disease Phosphoenolpyruvate carboxykinase deficiency orphanet.nt owl:Class ORPHA:251295 biolink:NamedThing|biolink:Disease Pigmented paravenous retinochoroidal atrophy 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!/hgnc_id/HGNC:7678 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4612 biolink:NamedThing orphanet.nt ORPHA:397623 biolink:NamedThing|biolink:Disease Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome orphanet.nt owl:Class ORPHA:423461 biolink:NamedThing|biolink:Disease Mucolipidosis type III alpha/beta orphanet.nt owl:Class !/hgnc_id/HGNC:25033 biolink:NamedThing orphanet.nt ORPHA:99961 biolink:NamedThing|biolink:Disease Benign recurrent intrahepatic cholestasis type 2 orphanet.nt owl:Class ORPHA:158673 biolink:NamedThing|biolink:Disease Localized dystrophic epidermolysis bullosa, acral form orphanet.nt owl:Class !/hgnc_id/HGNC:6377 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2950 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:26661 biolink:NamedThing orphanet.nt ORPHA:420741 biolink:NamedThing|biolink:Disease RIDDLE syndrome orphanet.nt owl:Class ORPHA:263458 biolink:NamedThing|biolink:Disease Hyperinsulinism due to INSR deficiency orphanet.nt 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!/hgnc_id/HGNC:28927 biolink:NamedThing orphanet.nt ORPHA:894 biolink:NamedThing|biolink:Disease Waardenburg syndrome type 1 orphanet.nt owl:Class ORPHA:101109 biolink:NamedThing|biolink:Disease Spinocerebellar ataxia type 28 orphanet.nt owl:Class !/hgnc_id/HGNC:30761 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:5385 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:33188 biolink:NamedThing orphanet.nt ORPHA:101010 biolink:NamedThing|biolink:Disease Autosomal spastic paraplegia type 30 orphanet.nt owl:Class ORPHA:228390 biolink:NamedThing|biolink:Disease Frontonasal dysplasia-alopecia-genital anomalies syndrome orphanet.nt owl:Class ORPHA:98933 biolink:NamedThing|biolink:Disease Multiple system atrophy, parkinsonian type orphanet.nt owl:Class ORPHA:97338 biolink:NamedThing|biolink:Disease Melanoma of soft tissue orphanet.nt owl:Class !/hgnc_id/HGNC:6171 biolink:NamedThing orphanet.nt ORPHA:538963 biolink:NamedThing|biolink:Disease Combined immunodeficiency due to ITK deficiency 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biolink:NamedThing|biolink:Disease Cardiospondylocarpofacial syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:2020 biolink:NamedThing orphanet.nt ORPHA:363540 biolink:NamedThing|biolink:Disease Leukoencephalopathy with mild cerebellar ataxia and white matter edema orphanet.nt owl:Class ORPHA:41 biolink:NamedThing|biolink:Disease Dyschromatosis symmetrica hereditaria orphanet.nt owl:Class ORPHA:94063 biolink:NamedThing|biolink:Disease 12q14 microdeletion syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:2605 biolink:NamedThing orphanet.nt ORPHA:909 biolink:NamedThing|biolink:Disease Cerebrotendinous xanthomatosis orphanet.nt owl:Class !/hgnc_id/HGNC:26058 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:26938 biolink:NamedThing orphanet.nt ORPHA:495844 biolink:NamedThing|biolink:Disease C11ORF73-related autosomal recessive hypomyelinating leukodystrophy orphanet.nt owl:Class ORPHA:494541 biolink:NamedThing|biolink:Disease Childhood-onset benign chorea with striatal involvement orphanet.nt 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haploinsufficiency syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:4175 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:28052 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:26158 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7597 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6006 biolink:NamedThing orphanet.nt ORPHA:357329 biolink:NamedThing|biolink:Disease Combined immunodeficiency due to IL21R deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:4661 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7562 biolink:NamedThing orphanet.nt ORPHA:183713 biolink:NamedThing|biolink:Disease Bacterial susceptibility due to TLR signaling pathway deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:8654 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:491 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29597 biolink:NamedThing orphanet.nt ORPHA:289539 biolink:NamedThing|biolink:Disease BAP1-related tumor predisposition syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:33699 biolink:NamedThing orphanet.nt ORPHA:300895 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Deafness-enamel hypoplasia-nail defects syndrome orphanet.nt owl:Class ORPHA:3243 biolink:NamedThing|biolink:Disease Sweet syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:2321 biolink:NamedThing orphanet.nt ORPHA:79273 biolink:NamedThing|biolink:Disease Hereditary coproporphyria orphanet.nt owl:Class !/hgnc_id/HGNC:23595 biolink:NamedThing orphanet.nt ORPHA:95434 biolink:NamedThing|biolink:Disease Autosomal recessive cerebellar ataxia-movement disorder syndrome orphanet.nt owl:Class ORPHA:280785 biolink:NamedThing|biolink:Disease Bullous diffuse cutaneous mastocytosis orphanet.nt owl:Class !/hgnc_id/HGNC:6172 biolink:NamedThing orphanet.nt ORPHA:370921 biolink:NamedThing|biolink:Disease STT3A-CDG orphanet.nt owl:Class ORPHA:99429 biolink:NamedThing|biolink:Disease Complete androgen insensitivity syndrome orphanet.nt owl:Class ORPHA:169100 biolink:NamedThing|biolink:Disease Immunodeficiency due to CD25 deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:3415 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4933 biolink:NamedThing orphanet.nt ORPHA:2790 biolink:NamedThing|biolink:Disease Endosteal hyperostosis, Worth type orphanet.nt owl:Class ORPHA:397941 biolink:NamedThing|biolink:Disease MAN1B1-CDG orphanet.nt owl:Class !/hgnc_id/HGNC:4061 biolink:NamedThing orphanet.nt ORPHA:79259 biolink:NamedThing|biolink:Disease Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib orphanet.nt owl:Class ORPHA:60040 biolink:NamedThing|biolink:Disease Megalencephaly-capillary malformation-polymicrogyria syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:21219 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29304 biolink:NamedThing orphanet.nt ORPHA:171445 biolink:NamedThing|biolink:Disease Muscle filaminopathy orphanet.nt owl:Class !/hgnc_id/HGNC:3036 biolink:NamedThing orphanet.nt ORPHA:190 biolink:NamedThing|biolink:Disease Coats disease orphanet.nt owl:Class !/hgnc_id/HGNC:2876 biolink:NamedThing orphanet.nt ORPHA:494444 biolink:NamedThing|biolink:Disease DIAPH1-related 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Formiminoglutamic aciduria orphanet.nt owl:Class !/hgnc_id/HGNC:20080 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:32689 biolink:NamedThing orphanet.nt ORPHA:466806 biolink:NamedThing|biolink:Disease Autosomal dominant thrombocytopenia with platelet secretion defect orphanet.nt owl:Class !/hgnc_id/HGNC:4396 biolink:NamedThing orphanet.nt ORPHA:488613 biolink:NamedThing|biolink:Disease Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome orphanet.nt owl:Class ORPHA:2300 biolink:NamedThing|biolink:Disease Multiple intestinal atresia orphanet.nt owl:Class !/hgnc_id/HGNC:9171 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9701 biolink:NamedThing orphanet.nt ORPHA:314655 biolink:NamedThing|biolink:Disease Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion orphanet.nt owl:Class !/hgnc_id/HGNC:3544 biolink:NamedThing orphanet.nt ORPHA:327 biolink:NamedThing|biolink:Disease Congenital factor VII deficiency 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Hereditary sensory neuropathy-deafness-dementia syndrome orphanet.nt owl:Class ORPHA:251274 biolink:NamedThing|biolink:Disease Familial hyperaldosteronism type III orphanet.nt owl:Class !/hgnc_id/HGNC:25786 biolink:NamedThing orphanet.nt ORPHA:101011 biolink:NamedThing|biolink:Disease Autosomal dominant spastic paraplegia type 31 orphanet.nt owl:Class !/hgnc_id/HGNC:3522 biolink:NamedThing orphanet.nt ORPHA:217622 biolink:NamedThing|biolink:Disease Sensorineural deafness with dilated cardiomyopathy orphanet.nt owl:Class !/hgnc_id/HGNC:6278 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:19368 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6816 biolink:NamedThing orphanet.nt ORPHA:100046 biolink:NamedThing|biolink:Disease Autosomal dominant intermediate Charcot-Marie-Tooth disease type D orphanet.nt owl:Class !/hgnc_id/HGNC:26498 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:50800 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29419 biolink:NamedThing orphanet.nt ORPHA:314051 biolink:NamedThing|biolink:Disease Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:8623 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9721 biolink:NamedThing orphanet.nt ORPHA:357064 biolink:NamedThing|biolink:Disease Autosomal recessive cutis laxa type 2B orphanet.nt owl:Class !/hgnc_id/HGNC:6149 biolink:NamedThing orphanet.nt ORPHA:627 biolink:NamedThing|biolink:Disease Nance-Horan syndrome orphanet.nt owl:Class ORPHA:480476 biolink:NamedThing|biolink:Disease Progressive familial intrahepatic cholestasis type 5 orphanet.nt owl:Class !/hgnc_id/HGNC:21020 biolink:NamedThing orphanet.nt ORPHA:570491 biolink:NamedThing|biolink:Disease QRSL1-related combined oxidative phosphorylation defect orphanet.nt owl:Class !/hgnc_id/HGNC:28403 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6912 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7227 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:894 biolink:NamedThing orphanet.nt ORPHA:30925 biolink:NamedThing|biolink:Disease Hereditary central diabetes insipidus orphanet.nt owl:Class !/hgnc_id/HGNC:23143 biolink:NamedThing orphanet.nt ORPHA:284271 biolink:NamedThing|biolink:Disease Autosomal recessive cerebellar ataxia-psychomotor delay syndrome orphanet.nt owl:Class ORPHA:968 biolink:NamedThing|biolink:Disease Acromesomelic dysplasia, Hunter-Thompson type orphanet.nt owl:Class ORPHA:404437 biolink:NamedThing|biolink:Disease Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:25135 biolink:NamedThing orphanet.nt ORPHA:300319 biolink:NamedThing|biolink:Disease Charcot-Marie-Tooth disease type 2P orphanet.nt owl:Class !/hgnc_id/HGNC:3182 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:8149 biolink:NamedThing orphanet.nt ORPHA:33572 biolink:NamedThing|biolink:Disease 5-oxoprolinase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:2873 biolink:NamedThing orphanet.nt ORPHA:621 biolink:NamedThing|biolink:Disease Hereditary methemoglobinemia orphanet.nt owl:Class !/hgnc_id/HGNC:33882 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7067 biolink:NamedThing orphanet.nt ORPHA:88917 biolink:NamedThing|biolink:Disease X-linked Alport syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:638 biolink:NamedThing orphanet.nt ORPHA:2337 biolink:NamedThing|biolink:Disease Non-epidermolytic palmoplantar keratoderma orphanet.nt owl:Class !/hgnc_id/HGNC:26576 biolink:NamedThing orphanet.nt ORPHA:496689 biolink:NamedThing|biolink:Disease Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome orphanet.nt owl:Class ORPHA:247806 biolink:NamedThing|biolink:Disease APC-related attenuated familial adenomatous polyposis orphanet.nt owl:Class ORPHA:280553 biolink:NamedThing|biolink:Disease Fatal infantile hypertonic myofibrillar myopathy orphanet.nt owl:Class ORPHA:476093 biolink:NamedThing|biolink:Disease Autosomal dominant distal axonal motor neuropathy-myofibrillar 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biolink:NamedThing|biolink:Disease NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency orphanet.nt owl:Class ORPHA:247676 biolink:NamedThing|biolink:Disease Adult hypophosphatasia orphanet.nt owl:Class !/hgnc_id/HGNC:2210 biolink:NamedThing orphanet.nt ORPHA:287 biolink:NamedThing|biolink:Disease Classical Ehlers-Danlos syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:25419 biolink:NamedThing orphanet.nt ORPHA:261197 biolink:NamedThing|biolink:Disease Proximal 16p11.2 microdeletion syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:25781 biolink:NamedThing orphanet.nt ORPHA:93409 biolink:NamedThing|biolink:Disease Brachydactyly-syndactyly, Zhao type orphanet.nt owl:Class !/hgnc_id/HGNC:9970 biolink:NamedThing orphanet.nt ORPHA:566393 biolink:NamedThing|biolink:Disease Acute mast cell leukemia orphanet.nt owl:Class ORPHA:228174 biolink:NamedThing|biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2N orphanet.nt owl:Class ORPHA:637 biolink:NamedThing|biolink:Disease Neurofibromatosis type 2 orphanet.nt owl:Class !/hgnc_id/HGNC:685 biolink:NamedThing orphanet.nt ORPHA:411641 biolink:NamedThing|biolink:Disease Ocular cystinosis orphanet.nt owl:Class !/hgnc_id/HGNC:7376 biolink:NamedThing orphanet.nt ORPHA:171866 biolink:NamedThing|biolink:Disease Spondyloepimetaphyseal dysplasia, aggrecan type orphanet.nt owl:Class !/hgnc_id/HGNC:3006 biolink:NamedThing orphanet.nt ORPHA:329178 biolink:NamedThing|biolink:Disease Congenital muscular dystrophy with intellectual disability and severe epilepsy orphanet.nt owl:Class ORPHA:284984 biolink:NamedThing|biolink:Disease Aneurysm-osteoarthritis syndrome orphanet.nt owl:Class ORPHA:1587 biolink:NamedThing|biolink:Disease Monosomy 13q14 orphanet.nt owl:Class !/hgnc_id/HGNC:6341 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2148 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3287 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:25361 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29843 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:30859 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2001 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29919 biolink:NamedThing orphanet.nt ORPHA:293168 biolink:NamedThing|biolink:Disease Infantile-onset ascending hereditary spastic paralysis orphanet.nt owl:Class !/hgnc_id/HGNC:870 biolink:NamedThing orphanet.nt ORPHA:905 biolink:NamedThing|biolink:Disease Wilson disease orphanet.nt owl:Class !/hgnc_id/HGNC:6081 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:24259 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6772 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:23845 biolink:NamedThing orphanet.nt ORPHA:436159 biolink:NamedThing|biolink:Disease Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency orphanet.nt owl:Class !/hgnc_id/HGNC:2280 biolink:NamedThing orphanet.nt ORPHA:293948 biolink:NamedThing|biolink:Disease 1p21.3 microdeletion syndrome orphanet.nt owl:Class ORPHA:136 biolink:NamedThing|biolink:Disease Cerebral autosomal dominant 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!/hgnc_id/HGNC:21606 biolink:NamedThing orphanet.nt ORPHA:447784 biolink:NamedThing|biolink:Disease Mitochondrial pyruvate carrier deficiency orphanet.nt owl:Class ORPHA:649 biolink:NamedThing|biolink:Disease Norrie disease orphanet.nt owl:Class ORPHA:477817 biolink:NamedThing|biolink:Disease PMP22-RAI1 contiguous gene duplication syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:32952 biolink:NamedThing orphanet.nt ORPHA:542310 biolink:NamedThing|biolink:Disease Leukoencephalopathy with calcifications and cysts orphanet.nt owl:Class !/hgnc_id/HGNC:28018 biolink:NamedThing orphanet.nt ORPHA:466 biolink:NamedThing|biolink:Disease Fatal familial insomnia orphanet.nt owl:Class !/hgnc_id/HGNC:24245 biolink:NamedThing orphanet.nt ORPHA:3193 biolink:NamedThing|biolink:Disease Supravalvular aortic stenosis orphanet.nt owl:Class ORPHA:247573 biolink:NamedThing|biolink:Disease Adult-onset citrullinemia type I orphanet.nt owl:Class !/hgnc_id/HGNC:24931 biolink:NamedThing orphanet.nt ORPHA:3454 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biolink:NamedThing|biolink:Disease Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:5022 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4083 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3331 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9438 biolink:NamedThing orphanet.nt ORPHA:210571 biolink:NamedThing|biolink:Disease Dystonia 16 orphanet.nt owl:Class !/hgnc_id/HGNC:21652 biolink:NamedThing orphanet.nt ORPHA:85179 biolink:NamedThing|biolink:Disease Infantile osteopetrosis with neuroaxonal dysplasia orphanet.nt owl:Class ORPHA:7 biolink:NamedThing|biolink:Disease 3C syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:20474 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2309 biolink:NamedThing orphanet.nt ORPHA:217093 biolink:NamedThing|biolink:Disease Mucopolysaccharidosis type 2, attenuated form orphanet.nt owl:Class ORPHA:488333 biolink:NamedThing|biolink:Disease Autosomal dominant Charcot-Marie-Tooth disease type 2W 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!/hgnc_id/HGNC:9891 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:5870 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:26620 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:2046 biolink:NamedThing orphanet.nt ORPHA:98908 biolink:NamedThing|biolink:Disease Neutral lipid storage myopathy orphanet.nt owl:Class ORPHA:329191 biolink:NamedThing|biolink:Disease Tall stature-scoliosis-macrodactyly of the great toes syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:3395 biolink:NamedThing orphanet.nt ORPHA:137667 biolink:NamedThing|biolink:Disease Capillary malformation-arteriovenous malformation orphanet.nt owl:Class !/hgnc_id/HGNC:28486 biolink:NamedThing orphanet.nt ORPHA:228366 biolink:NamedThing|biolink:Disease CLN7 disease orphanet.nt owl:Class ORPHA:93279 biolink:NamedThing|biolink:Disease Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis orphanet.nt owl:Class !/hgnc_id/HGNC:19918 biolink:NamedThing orphanet.nt ORPHA:94068 biolink:NamedThing|biolink:Disease Spondyloepiphyseal dysplasia congenita orphanet.nt owl:Class !/hgnc_id/HGNC:6597 biolink:NamedThing orphanet.nt ORPHA:3206 biolink:NamedThing|biolink:Disease Stüve-Wiedemann syndrome orphanet.nt owl:Class ORPHA:276603 biolink:NamedThing|biolink:Disease Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:20684 biolink:NamedThing orphanet.nt ORPHA:101111 biolink:NamedThing|biolink:Disease Spinocerebellar ataxia type 25 orphanet.nt owl:Class ORPHA:199241 biolink:NamedThing|biolink:Disease Pulmonary capillary hemangiomatosis orphanet.nt owl:Class !/hgnc_id/HGNC:9137 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6005 biolink:NamedThing orphanet.nt ORPHA:477661 biolink:NamedThing|biolink:Disease IL21-related infantile inflammatory bowel disease orphanet.nt owl:Class !/hgnc_id/HGNC:20577 biolink:NamedThing orphanet.nt ORPHA:398189 biolink:NamedThing|biolink:Disease Focal facial dermal dysplasia type IV orphanet.nt owl:Class ORPHA:295195 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!/hgnc_id/HGNC:554 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7716 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:26033 biolink:NamedThing orphanet.nt ORPHA:642 biolink:NamedThing|biolink:Disease Hereditary sensory and autonomic neuropathy type 4 orphanet.nt owl:Class !/hgnc_id/HGNC:6826 biolink:NamedThing orphanet.nt ORPHA:309288 biolink:NamedThing|biolink:Disease Alpha-mannosidosis, adult form orphanet.nt owl:Class !/hgnc_id/HGNC:24124 biolink:NamedThing orphanet.nt ORPHA:2613 biolink:NamedThing|biolink:Disease Nail-patella-like renal disease orphanet.nt owl:Class !/hgnc_id/HGNC:26404 biolink:NamedThing orphanet.nt ORPHA:431361 biolink:NamedThing|biolink:Disease Progressive encephalopathy with leukodystrophy due to DECR deficiency orphanet.nt owl:Class ORPHA:324561 biolink:NamedThing|biolink:Disease Hypopigmentation-punctate palmoplantar keratoderma syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:57 biolink:NamedThing orphanet.nt ORPHA:51608 biolink:NamedThing|biolink:Disease Generalized arterial calcification of infancy orphanet.nt owl:Class ORPHA:79257 biolink:NamedThing|biolink:Disease GM1 gangliosidosis type 3 orphanet.nt owl:Class !/hgnc_id/HGNC:29331 biolink:NamedThing orphanet.nt ORPHA:1493 biolink:NamedThing|biolink:Disease Vici syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:30078 biolink:NamedThing orphanet.nt ORPHA:79401 biolink:NamedThing|biolink:Disease PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement orphanet.nt owl:Class !/hgnc_id/HGNC:20739 biolink:NamedThing orphanet.nt ORPHA:456333 biolink:NamedThing|biolink:Disease Hereditary neuroendocrine tumor of small intestine orphanet.nt owl:Class ORPHA:261600 biolink:NamedThing|biolink:Disease Alagille syndrome due to 20p12 microdeletion orphanet.nt owl:Class ORPHA:401805 biolink:NamedThing|biolink:Disease Autosomal recessive spastic paraplegia type 63 orphanet.nt owl:Class !/hgnc_id/HGNC:9349 biolink:NamedThing orphanet.nt ORPHA:90354 biolink:NamedThing|biolink:Disease Brittle cornea syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:23375 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:325 biolink:NamedThing orphanet.nt ORPHA:93562 biolink:NamedThing|biolink:Disease AFib amyloidosis orphanet.nt owl:Class !/hgnc_id/HGNC:9670 biolink:NamedThing orphanet.nt ORPHA:180188 biolink:NamedThing|biolink:Disease Isolated congenital breast hypoplasia/aplasia orphanet.nt owl:Class !/hgnc_id/HGNC:29602 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9766 biolink:NamedThing orphanet.nt ORPHA:79477 biolink:NamedThing|biolink:Disease Griscelli syndrome type 2 orphanet.nt owl:Class !/hgnc_id/HGNC:29561 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3018 biolink:NamedThing orphanet.nt ORPHA:53689 biolink:NamedThing|biolink:Disease Congenital chloride diarrhea orphanet.nt owl:Class !/hgnc_id/HGNC:3809 biolink:NamedThing orphanet.nt ORPHA:210122 biolink:NamedThing|biolink:Disease Congenital alveolar capillary dysplasia orphanet.nt owl:Class ORPHA:476096 biolink:NamedThing|biolink:Disease Erythrokeratodermia-cardiomyopathy syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:2699 biolink:NamedThing orphanet.nt ORPHA:352723 biolink:NamedThing|biolink:Disease Attenuated Chédiak-Higashi syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:25671 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:26267 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4237 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:34383 biolink:NamedThing orphanet.nt ORPHA:565 biolink:NamedThing|biolink:Disease Menkes disease orphanet.nt owl:Class ORPHA:93260 biolink:NamedThing|biolink:Disease Pfeiffer syndrome type 3 orphanet.nt owl:Class !/hgnc_id/HGNC:24063 biolink:NamedThing orphanet.nt ORPHA:570422 biolink:NamedThing|biolink:Disease Galactose mutarotase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:2671 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9043 biolink:NamedThing orphanet.nt ORPHA:521426 biolink:NamedThing|biolink:Disease PLAA-associated neurodevelopmental 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biolink:NamedThing|biolink:Disease Polyglucosan body myopathy type 2 orphanet.nt owl:Class !/hgnc_id/HGNC:23663 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:8618 biolink:NamedThing orphanet.nt ORPHA:647 biolink:NamedThing|biolink:Disease Nijmegen breakage syndrome orphanet.nt owl:Class ORPHA:314603 biolink:NamedThing|biolink:Disease Autosomal recessive spastic ataxia with leukoencephalopathy orphanet.nt owl:Class ORPHA:60 biolink:NamedThing|biolink:Disease Alpha-1-antitrypsin deficiency orphanet.nt owl:Class ORPHA:33067 biolink:NamedThing|biolink:Disease Metaphyseal chondrodysplasia, Jansen type orphanet.nt owl:Class ORPHA:95232 biolink:NamedThing|biolink:Disease Lissencephaly due to LIS1 mutation orphanet.nt owl:Class ORPHA:228354 biolink:NamedThing|biolink:Disease CLN8 disease orphanet.nt owl:Class ORPHA:276223 biolink:NamedThing|biolink:Disease Mucopolysaccharidosis type 6, slowly progressing orphanet.nt owl:Class !/hgnc_id/HGNC:9879 biolink:NamedThing orphanet.nt ORPHA:420566 biolink:NamedThing|biolink:Disease Bleeding disorder due to CalDAG-GEFI deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:7197 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9083 biolink:NamedThing orphanet.nt ORPHA:300284 biolink:NamedThing|biolink:Disease Connective tissue disorder due to lysyl hydroxylase-3 deficiency orphanet.nt owl:Class ORPHA:2182 biolink:NamedThing|biolink:Disease Hydrocephalus with stenosis of the aqueduct of Sylvius orphanet.nt owl:Class !/hgnc_id/HGNC:3146 biolink:NamedThing orphanet.nt ORPHA:485 biolink:NamedThing|biolink:Disease Kniest dysplasia orphanet.nt owl:Class ORPHA:33226 biolink:NamedThing|biolink:Disease Waldenström macroglobulinemia orphanet.nt owl:Class !/hgnc_id/HGNC:6305 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:1955 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9811 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4056 biolink:NamedThing orphanet.nt ORPHA:79258 biolink:NamedThing|biolink:Disease Glycogen storage disease due to 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ORPHA:93297 biolink:NamedThing|biolink:Disease Hypochondrogenesis orphanet.nt owl:Class !/hgnc_id/HGNC:3528 biolink:NamedThing orphanet.nt ORPHA:328 biolink:NamedThing|biolink:Disease Congenital factor X deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:24048 biolink:NamedThing orphanet.nt ORPHA:1556 biolink:NamedThing|biolink:Disease Cutis marmorata telangiectatica congenita orphanet.nt owl:Class !/hgnc_id/HGNC:2226 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29456 biolink:NamedThing orphanet.nt ORPHA:424261 biolink:NamedThing|biolink:Disease TOR1AIP1-related limb-girdle muscular dystrophy orphanet.nt owl:Class ORPHA:100034 biolink:NamedThing|biolink:Disease Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism orphanet.nt owl:Class ORPHA:2753 biolink:NamedThing|biolink:Disease Orofaciodigital syndrome type 4 orphanet.nt owl:Class !/hgnc_id/HGNC:32521 biolink:NamedThing orphanet.nt ORPHA:401815 biolink:NamedThing|biolink:Disease Autosomal recessive spastic paraplegia 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owl:Class !/hgnc_id/HGNC:5464 biolink:NamedThing orphanet.nt ORPHA:73272 biolink:NamedThing|biolink:Disease Growth delay due to insulin-like growth factor type 1 deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:2519 biolink:NamedThing orphanet.nt ORPHA:420573 biolink:NamedThing|biolink:Disease Severe combined immunodeficiency due to CTPS1 deficiency orphanet.nt owl:Class ORPHA:169154 biolink:NamedThing|biolink:Disease T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency orphanet.nt owl:Class ORPHA:457265 biolink:NamedThing|biolink:Disease Progressive myoclonic epilepsy type 9 orphanet.nt owl:Class ORPHA:397922 biolink:NamedThing|biolink:Disease Ferro-cerebro-cutaneous syndrome orphanet.nt owl:Class ORPHA:284979 biolink:NamedThing|biolink:Disease Neonatal Marfan syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:30892 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29017 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:565 biolink:NamedThing orphanet.nt ORPHA:101050 biolink:NamedThing|biolink:Disease Familial hypocalciuric hypercalcemia type 3 orphanet.nt owl:Class !/hgnc_id/HGNC:21057 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:21158 biolink:NamedThing orphanet.nt ORPHA:137634 biolink:NamedThing|biolink:Disease Overgrowth-macrocephaly-facial dysmorphism syndrome orphanet.nt owl:Class ORPHA:2342 biolink:NamedThing|biolink:Disease Haim-Munk syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:33848 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:6993 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29685 biolink:NamedThing orphanet.nt ORPHA:436174 biolink:NamedThing|biolink:Disease Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:29361 biolink:NamedThing orphanet.nt ORPHA:506353 biolink:NamedThing|biolink:Disease Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction orphanet.nt owl:Class ORPHA:314597 biolink:NamedThing|biolink:Disease Chudley-McCullough syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:28296 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:30883 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3976 biolink:NamedThing orphanet.nt ORPHA:247790 biolink:NamedThing|biolink:Disease FTH1-related iron overload orphanet.nt owl:Class !/hgnc_id/HGNC:7499 biolink:NamedThing orphanet.nt ORPHA:254857 biolink:NamedThing|biolink:Disease Lethal infantile mitochondrial myopathy orphanet.nt owl:Class ORPHA:280651 biolink:NamedThing|biolink:Disease Acrodysostosis with multiple hormone resistance orphanet.nt owl:Class ORPHA:228012 biolink:NamedThing|biolink:Disease Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome orphanet.nt owl:Class ORPHA:293633 biolink:NamedThing|biolink:Disease PYCR1-related De Barsy syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:25415 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:9453 biolink:NamedThing orphanet.nt ORPHA:419 biolink:NamedThing|biolink:Disease Hyperprolinemia type 1 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X-linked Charcot-Marie-Tooth disease type 4 orphanet.nt owl:Class !/hgnc_id/HGNC:3951 biolink:NamedThing orphanet.nt ORPHA:95 biolink:NamedThing|biolink:Disease Friedreich ataxia orphanet.nt owl:Class !/hgnc_id/HGNC:54925 biolink:NamedThing orphanet.nt ORPHA:99852 biolink:NamedThing|biolink:Disease Ravine syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:3671 biolink:NamedThing orphanet.nt ORPHA:98764 biolink:NamedThing|biolink:Disease Spinocerebellar ataxia type 27 orphanet.nt owl:Class !/hgnc_id/HGNC:25198 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:24496 biolink:NamedThing orphanet.nt ORPHA:431272 biolink:NamedThing|biolink:Disease X-linked scapuloperoneal muscular dystrophy orphanet.nt owl:Class !/hgnc_id/HGNC:6715 biolink:NamedThing orphanet.nt ORPHA:238763 biolink:NamedThing|biolink:Disease Glaucoma secondary to spherophakia/ectopia lentis and megalocornea orphanet.nt owl:Class !/hgnc_id/HGNC:23140 biolink:NamedThing orphanet.nt ORPHA:89842 biolink:NamedThing|biolink:Disease Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form orphanet.nt owl:Class !/hgnc_id/HGNC:6439 biolink:NamedThing orphanet.nt ORPHA:455 biolink:NamedThing|biolink:Disease Superficial epidermolytic ichthyosis orphanet.nt owl:Class !/hgnc_id/HGNC:19988 biolink:NamedThing orphanet.nt ORPHA:221008 biolink:NamedThing|biolink:Disease Rothmund-Thomson syndrome type 1 orphanet.nt owl:Class ORPHA:231226 biolink:NamedThing|biolink:Disease Dominant beta-thalassemia orphanet.nt owl:Class ORPHA:79279 biolink:NamedThing|biolink:Disease Alpha-N-acetylgalactosaminidase deficiency type 1 orphanet.nt owl:Class !/hgnc_id/HGNC:25240 biolink:NamedThing orphanet.nt ORPHA:806 biolink:NamedThing|biolink:Disease Scott syndrome orphanet.nt owl:Class ORPHA:629 biolink:NamedThing|biolink:Disease Short stature due to growth hormone qualitative anomaly orphanet.nt owl:Class ORPHA:369867 biolink:NamedThing|biolink:Disease Autosomal recessive intermediate Charcot-Marie-Tooth disease 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!/hgnc_id/HGNC:8847 biolink:NamedThing orphanet.nt ORPHA:240094 biolink:NamedThing|biolink:Disease Progressive supranuclear palsy-pure akinesia with gait freezing syndrome orphanet.nt owl:Class ORPHA:496686 biolink:NamedThing|biolink:Disease Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome orphanet.nt owl:Class ORPHA:468661 biolink:NamedThing|biolink:Disease Autosomal recessive spastic paraplegia type 74 orphanet.nt owl:Class !/hgnc_id/HGNC:21176 biolink:NamedThing orphanet.nt ORPHA:324535 biolink:NamedThing|biolink:Disease Combined oxidative phosphorylation defect type 11 orphanet.nt owl:Class !/hgnc_id/HGNC:4593 biolink:NamedThing orphanet.nt ORPHA:324262 biolink:NamedThing|biolink:Disease Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:25557 biolink:NamedThing orphanet.nt ORPHA:464288 biolink:NamedThing|biolink:Disease Short stature-brachydactyly-obesity-global developmental delay syndrome orphanet.nt 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delay-intellectual disability-hepatopathy syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:3250 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:4516 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:26624 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:20662 biolink:NamedThing orphanet.nt ORPHA:2963 biolink:NamedThing|biolink:Disease Progeroid syndrome, Petty type orphanet.nt owl:Class !/hgnc_id/HGNC:32700 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:8029 biolink:NamedThing orphanet.nt ORPHA:45448 biolink:NamedThing|biolink:Disease Miyoshi myopathy orphanet.nt owl:Class !/hgnc_id/HGNC:24866 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:21406 biolink:NamedThing orphanet.nt ORPHA:166073 biolink:NamedThing|biolink:Disease Pontocerebellar hypoplasia type 6 orphanet.nt owl:Class !/hgnc_id/HGNC:26441 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:28613 biolink:NamedThing orphanet.nt ORPHA:284324 biolink:NamedThing|biolink:Disease Childhood-onset autosomal recessive slowly progressive spinocerebellar 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!/hgnc_id/HGNC:4806 biolink:NamedThing orphanet.nt ORPHA:2157 biolink:NamedThing|biolink:Disease Histidinemia orphanet.nt owl:Class ORPHA:2072 biolink:NamedThing|biolink:Disease Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:9944 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:7566 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:5101 biolink:NamedThing orphanet.nt ORPHA:314978 biolink:NamedThing|biolink:Disease X-linked non progressive cerebellar ataxia orphanet.nt owl:Class !/hgnc_id/HGNC:4192 biolink:NamedThing orphanet.nt ORPHA:438274 biolink:NamedThing|biolink:Disease GCGR-related hyperglucagonemia orphanet.nt owl:Class ORPHA:313855 biolink:NamedThing|biolink:Disease FGFR2-related bent bone dysplasia orphanet.nt owl:Class !/hgnc_id/HGNC:409 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:26837 biolink:NamedThing orphanet.nt ORPHA:2780 biolink:NamedThing|biolink:Disease Osteopathia striata-cranial sclerosis syndrome orphanet.nt 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!/hgnc_id/HGNC:7737 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:318 biolink:NamedThing orphanet.nt ORPHA:93 biolink:NamedThing|biolink:Disease Aspartylglucosaminuria orphanet.nt owl:Class !/hgnc_id/HGNC:6996 biolink:NamedThing orphanet.nt ORPHA:228384 biolink:NamedThing|biolink:Disease 5q14.3 microdeletion syndrome orphanet.nt owl:Class ORPHA:2645 biolink:NamedThing|biolink:Disease Osteoglosphonic dysplasia orphanet.nt owl:Class !/hgnc_id/HGNC:29882 biolink:NamedThing orphanet.nt ORPHA:43115 biolink:NamedThing|biolink:Disease Hereditary myopathy with lactic acidosis due to ISCU deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:2372 biolink:NamedThing orphanet.nt ORPHA:79233 biolink:NamedThing|biolink:Disease Hypoxanthine guanine phosphoribosyltransferase partial deficiency orphanet.nt owl:Class ORPHA:2148 biolink:NamedThing|biolink:Disease Lissencephaly type 1 due to doublecortin gene mutation orphanet.nt owl:Class !/hgnc_id/HGNC:37475 biolink:NamedThing orphanet.nt ORPHA:276183 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ATP13A2-related juvenile neuronal ceroid lipofuscinosis orphanet.nt owl:Class ORPHA:35664 biolink:NamedThing|biolink:Disease ALDH18A1-related De Barsy syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:30349 biolink:NamedThing orphanet.nt ORPHA:65743 biolink:NamedThing|biolink:Disease Autosomal dominant multiple pterygium syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:23448 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:23045 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3401 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:29679 biolink:NamedThing orphanet.nt ORPHA:401979 biolink:NamedThing|biolink:Disease Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type orphanet.nt owl:Class ORPHA:69739 biolink:NamedThing|biolink:Disease Athabaskan brainstem dysgenesis syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:33276 biolink:NamedThing orphanet.nt ORPHA:93385 biolink:NamedThing|biolink:Disease NON RARE IN EUROPE: Brachydactyly type D orphanet.nt owl:Class !/hgnc_id/HGNC:9075 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ORPHA:79651 biolink:NamedThing|biolink:Disease Mild hyperphenylalaninemia orphanet.nt owl:Class !/hgnc_id/HGNC:22923 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:25567 biolink:NamedThing orphanet.nt ORPHA:496790 biolink:NamedThing|biolink:Disease Ocular anomalies-axonal neuropathy-developmental delay syndrome orphanet.nt owl:Class !/hgnc_id/HGNC:37227 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:3354 biolink:NamedThing orphanet.nt ORPHA:99849 biolink:NamedThing|biolink:Disease Glycogen storage disease due to muscle beta-enolase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:23656 biolink:NamedThing orphanet.nt ORPHA:505216 biolink:NamedThing|biolink:Disease 3-methylglutaconic aciduria type 9 orphanet.nt owl:Class ORPHA:95698 biolink:NamedThing|biolink:Disease NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency orphanet.nt owl:Class !/hgnc_id/HGNC:6741 biolink:NamedThing orphanet.nt !/hgnc_id/HGNC:26022 biolink:NamedThing orphanet.nt 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biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3013 biolink:NamedThing orphanet.nt DHPase owl:Class ENSEMBL:ENSG00000147647 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=DPYS biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q14117 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/613326 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q14117 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30161 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30171 biolink:NamedThing orphanet.nt CMT2L|E2IG1|H11|HSP22|HspB8 owl:Class ENSEMBL:ENSG00000152137 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=HSPB8 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q9UJY1 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/608014 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q9UJY1 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30172 biolink:NamedThing orphanet.nt LYK5|NY-BR-96|STE20-like pseudokinase|Stlk|STRAD owl:Class ENSEMBL:ENSG00000266173 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=STRADA biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q7RTN6 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/608626 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2227 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q7RTN6 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30185 biolink:NamedThing orphanet.nt MRT2 owl:Class ENSEMBL:ENSG00000113851 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=CRBN biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q96SW2 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/609262 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3086 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3018 biolink:NamedThing orphanet.nt owl:Class ENSEMBL:ENSG00000091138 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=SLC26A3 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:P40879 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/126650 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1099 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P40879 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30207 biolink:NamedThing orphanet.nt PARG1 owl:Class ENSEMBL:ENSG00000137962 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=ARHGAP29 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q52LW3 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/610496 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q52LW3 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30212 biolink:NamedThing orphanet.nt DKFZP564D166|FLJ10215|FLJ11824|KIAA1148|KIAA1636|rolling pebbles homolog B (Drosophila)|rols|ROLSA owl:Class ENSEMBL:ENSG00000170921 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q9HCD6 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/615047 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30213 biolink:NamedThing orphanet.nt CLN12|HSA9947 owl:Class ENSEMBL:ENSG00000159363 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=ATP13A2 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q9NQ11 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/610513 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3156 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q9NQ11 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30220 biolink:NamedThing orphanet.nt CDG1N|congenital disorder of glycosylation 1N owl:Class ENSEMBL:ENSG00000163933 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=RFT1 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q96AA3 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/611908 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q96AA3 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30224 biolink:NamedThing orphanet.nt D15Ertd747e|FLJ11856|GPCR41|hRFT3|PAR1|RFVT2 owl:Class ENSEMBL:ENSG00000185803 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=SLC52A2 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q9HAB3 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/607882 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2572 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q9HAB3 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30225 biolink:NamedThing orphanet.nt FLJ10060|GPCR42|hRFT1|PAR2|RFVT1|Riboflavin transporter 1 owl:Class ENSEMBL:ENSG00000132517 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=SLC52A1 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q9NWF4 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/607883 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2571 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q9NWF4 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30228 biolink:NamedThing orphanet.nt KIAA0436 owl:Class ENSEMBL:ENSG00000138078 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=PREPL biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q4J6C6 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/609557 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2870 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30237 biolink:NamedThing orphanet.nt FLJ20241|Freud-1|mental retardation, nonsyndromic, autosomal recessive, 3|MRT3 owl:Class ENSEMBL:ENSG00000132024 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=CC2D1A biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q6P1N0 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/610055 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3023 biolink:NamedThing orphanet.nt owl:Class ENSEMBL:ENSG00000149295 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=DRD2 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:P14416 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/126450 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=215 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P14416 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30242 biolink:NamedThing orphanet.nt Magnesium uptake/transporter TUSC3|MagT2|MGC13453|MRT7|N33|oligosaccharyltransferase 3 homolog A (S. cerevisiae)|OST3A|SLC58A2 owl:Class ENSEMBL:ENSG00000104723 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=TUSC3 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q13454 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/601385 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3040 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q13454 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3024 biolink:NamedThing orphanet.nt owl:Class ENSEMBL:ENSG00000151577 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=DRD3 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:P35462 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/126451 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=216 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P35462 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30260 biolink:NamedThing orphanet.nt PDXPO owl:Class ENSEMBL:ENSG00000108439 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=PNPO biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q9NVS9 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/603287 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q9NVS9 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30262 biolink:NamedThing orphanet.nt P5CR2 owl:Class ENSEMBL:ENSG00000143811 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=PYCR2 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q96C36 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/616406 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:R-HSA-6783954 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30304 biolink:NamedThing orphanet.nt FLJ45744|PERRS|R9AP|RGS9 owl:Class ENSEMBL:ENSG00000186326 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=RGS9BP biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q6ZS82 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/607814 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q6ZS82 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3033 biolink:NamedThing orphanet.nt B37 owl:Class ENSEMBL:ENSG00000111676 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=ATN1 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:P54259 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/607462 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:P54259 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30343 biolink:NamedThing orphanet.nt KIAA0678|RME8 owl:Class ENSEMBL:ENSG00000138246 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=DNAJC13 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:O75165 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/614334 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:O75165 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30348 biolink:NamedThing orphanet.nt FLJ10388|RPC2 owl:Class ENSEMBL:ENSG00000013503 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=POLR3B biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q9NW08 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/614366 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q9NW08 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30349 biolink:NamedThing orphanet.nt KIAA1665|RPC8 owl:Class ENSEMBL:ENSG00000100413 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q9Y535 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q9Y535 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3036 biolink:NamedThing orphanet.nt CDHF2 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https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30373 biolink:NamedThing orphanet.nt ARHGEF36|KIAA1010|scaffold protein TUBA|Tuba owl:Class ENSEMBL:ENSG00000107554 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q6XZF7 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/611282 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q6XZF7 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3037 biolink:NamedThing orphanet.nt CDHF3|DSC|DSC1|DSC2 owl:Class ENSEMBL:ENSG00000134762 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=DSC3 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q14574 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/600271 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q14574 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30391 biolink:NamedThing orphanet.nt BBS20|NPHP17|osm-1|SLB|wim|wimple homolog owl:Class ENSEMBL:ENSG00000138002 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=IFT172 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q9UG01 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/607386 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q9UG01 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:303 biolink:NamedThing orphanet.nt ACLP|adipocyte enhancer binding protein 1|aortic carboxypeptidase-like protein owl:Class ENSEMBL:ENSG00000106624 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q8IUX7 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/602981 biolink:Gene|biolink:NamedThing orphanet.nt 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biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:A1XBS5 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3046 biolink:NamedThing orphanet.nt DCRC|DSRC|phosphatidylinositol-n-acetylglucosaminyltranferase subunit owl:Class ENSEMBL:ENSG00000185808 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=PIGP biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:P57054 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/605938 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:P57054 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3048 biolink:NamedThing orphanet.nt CDHF4 owl:Class ENSEMBL:ENSG00000134760 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=DSG1 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q02413 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/125670 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q02413 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30492 biolink:NamedThing orphanet.nt FLJ36139|FLJ40069|PCD|PF22 owl:Class ENSEMBL:ENSG00000167646 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=DNAAF3 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q8N9W5 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/614566 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30494 biolink:NamedThing orphanet.nt owl:Class ENSEMBL:ENSG00000176542 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q68DE3 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/617568 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30497 biolink:NamedThing orphanet.nt JBTS12 owl:Class ENSEMBL:ENSG00000166813 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=KIF7 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q2M1P5 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/611254 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q2M1P5 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3049 biolink:NamedThing orphanet.nt CDHF5 owl:Class ENSEMBL:ENSG00000046604 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=DSG2 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q14126 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/125671 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q14126 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30500 biolink:NamedThing orphanet.nt dispanin subfamily B member 3|DKFZp547J199|DSPB3|EKD1|FICCA|FLJ25513|IFITMD1|Interferon induced transmembrane protein domain containing 1|PKC owl:Class ENSEMBL:ENSG00000167371 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=PRRT2 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q7Z6L0 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/614386 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30521 biolink:NamedThing orphanet.nt HCP1|heme carrier protein 1|MGC9564|PCFT|proton-coupled folate transporter owl:Class ENSEMBL:ENSG00000076351 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=SLC46A1 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q96NT5 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/611672 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1213 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q96NT5 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30528 biolink:NamedThing orphanet.nt mitochondrial import inner membrane translocase subunit TIM14|Pam18|Tim14|TIMM14 owl:Class ENSEMBL:ENSG00000205981 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=DNAJC19 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q96DA6 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/608977 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q96DA6 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3052 biolink:NamedThing orphanet.nt DPI|DPII|KPPS2|PPKS2 owl:Class ENSEMBL:ENSG00000096696 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=DSP biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:P15924 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/125647 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:P15924 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30539 biolink:NamedThing orphanet.nt CILD13|FLJ25330|ODA7|outer row dynein assembly 7 homolog (Chlamydomonas)|swt owl:Class ENSEMBL:ENSG00000154099 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=DNAAF1 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q8NEP3 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/613190 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q8NEP3 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3054 biolink:NamedThing orphanet.nt DMP3 owl:Class ENSEMBL:ENSG00000152591 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=DSPP biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q9NZW4 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/125485 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q9NZW4 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30550 biolink:NamedThing orphanet.nt MARCH-VI|RNF176|TEB4 owl:Class ENSEMBL:ENSG00000145495 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:O60337 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/613297 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:O60337 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30551 biolink:NamedThing orphanet.nt DIB1|DIM1|HsT161|similar to S. pombe dim1+|SNRNP15|U5-15kD owl:Class ENSEMBL:ENSG00000141759 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=TXNL4A biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:P83876 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/611595 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:P83876 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30563 biolink:NamedThing orphanet.nt DKFZp727A071|proline tRNA ligase 2, mitochondrial (putative) owl:Class ENSEMBL:ENSG00000162396 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q7L3T8 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/612036 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q7L3T8 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30577 biolink:NamedThing orphanet.nt FLJ39787|skeletrophin|ZZZ5 owl:Class ENSEMBL:ENSG00000197530 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=MIB2 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q96AX9 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/611141 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q96AX9 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30578 biolink:NamedThing orphanet.nt SLAC2-B|synaptotagmin-like homologue lacking C2 domains b owl:Class ENSEMBL:ENSG00000110723 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=EXPH5 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q8NEV8 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/612878 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3057 biolink:NamedThing orphanet.nt D18S892E|DRP3|DTN|DTN-1|DTN-2|DTN-3|dystrophin-related protein 3 owl:Class ENSEMBL:ENSG00000134769 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=DTNA biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q9Y4J8 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/601239 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q9Y4J8 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30605 biolink:NamedThing orphanet.nt O-phosphoseryl-tRNA(Sec) selenium transferase|SLA|SLA/LP|soluble liver antigen/liver pancreas antigen owl:Class ENSEMBL:ENSG00000109618 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=SEPSECS biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q9HD40 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/613009 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q9HD40 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30611 biolink:NamedThing orphanet.nt Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B|dolichyl-diphosphooligosaccharide protein glycotransferase|FLJ90106|SIMP|source of immunodominant MHC associated peptides|STT3-B owl:Class ENSEMBL:ENSG00000163527 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=STT3B biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q8TCJ2 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/608605 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30650 biolink:NamedThing orphanet.nt FLJ12541|retinol binding protein 4 receptor owl:Class ENSEMBL:ENSG00000137868 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=STRA6 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q9BX79 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/610745 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q9BX79 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class 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biolink:Gene|biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30677 biolink:NamedThing orphanet.nt GPATC5|GPATCH5|G patch domain containing 5|Spp2|T54 owl:Class ENSEMBL:ENSG00000068394 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q92917 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/301003 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class REACT:Q92917 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30696 biolink:NamedThing orphanet.nt TA-WDRP|UTP21 owl:Class ENSEMBL:ENSG00000134987 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://genatlas.medecine.univ-paris5.fr/fiche.php?symbol=WDR36 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class SwissProt:Q8NI36 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class http://omim.org/entry/609669 biolink:Gene|biolink:NamedThing orphanet.nt owl:Class 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https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:43726 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4379 biolink:NamedThing orphanet.nt FBH|FBH2|FHH2 owl:Class REACT:P29992 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4382 biolink:NamedThing orphanet.nt owl:Class REACT:O95837 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4387 biolink:NamedThing orphanet.nt 87U6|Guanine nucleotide-binding protein G(k) subunit alpha owl:Class REACT:P08754 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4388 biolink:NamedThing orphanet.nt owl:Class REACT:P38405 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4389 biolink:NamedThing 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biolink:NamedThing orphanet.nt CSNBAD3 owl:Class REACT:P11488 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4394 biolink:NamedThing orphanet.nt ACHM4 owl:Class REACT:P19087 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4396 biolink:NamedThing orphanet.nt guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1|transducin beta chain 1 owl:Class REACT:P62873 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:43984 biolink:NamedThing orphanet.nt LINC-HELLP|Long intergenic non-protein coding RNA associated with HELLP syndrome owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:43 biolink:NamedThing orphanet.nt D6S114E|PSF1|RING4 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=769 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q03518 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4400 biolink:NamedThing orphanet.nt Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3|transducin beta chain 3 owl:Class REACT:P16520 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4401 biolink:NamedThing orphanet.nt GB5|Guanine nucleotide-binding protein subunit beta-5|Transducin beta chain 5 owl:Class REACT:O14775 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4415 biolink:NamedThing orphanet.nt owl:Class REACT:Q14749 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4416 biolink:NamedThing orphanet.nt DAP-AT|DAPAT|DHAPAT|dihydroxyacetone phosphate acyltransferase|glycerone-phosphate O-acyltransferase owl:Class REACT:O15228 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4419 biolink:NamedThing orphanet.nt progonadoliberin-1 owl:Class REACT:P01148 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4421 biolink:NamedThing orphanet.nt LHRHR owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=256 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P30968 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4422 biolink:NamedThing orphanet.nt N-acetylglucosamine-6-sulfatase|Sanfilippo disease IIID owl:Class REACT:P15586 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4428 biolink:NamedThing orphanet.nt golgi integral membrane protein 5|golgin-84|GOLIM5|ret-II|rfg5 owl:Class REACT:Q8TBA6 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4431 biolink:NamedThing orphanet.nt Bos1|GS27 owl:Class REACT:O14653 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4439 biolink:NamedThing orphanet.nt CD42b|GPIbalpha|platelet glycoprotein Ib alpha chain owl:Class REACT:P07359 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:443 biolink:NamedThing orphanet.nt Alsin owl:Class REACT:Q96Q42 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4440 biolink:NamedThing orphanet.nt CD42c|GPIbbeta|platelet glycoprotein Ib beta chain owl:Class REACT:P13224 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4444 biolink:NamedThing orphanet.nt CD42a|GPIX|platelet glycoprotein IX owl:Class REACT:P14770 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4446 biolink:NamedThing orphanet.nt GAA1|GPI transamidase subunit|hGAA1 owl:Class REACT:O43292 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4451 biolink:NamedThing orphanet.nt DGSX|glypican proteoglycan 3|OCI-5|SGB|SGBS|SGBS1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2959 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P51654 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4452 biolink:NamedThing orphanet.nt glypican proteoglycan 4|K-glypican owl:Class REACT:O75487 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4454 biolink:NamedThing orphanet.nt glypican proteoglycan 6 owl:Class REACT:Q9Y625 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4455 biolink:NamedThing orphanet.nt owl:Class REACT:P21695 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4458 biolink:NamedThing orphanet.nt AMF|NLK owl:Class REACT:P06744 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:445 biolink:NamedThing orphanet.nt AOA2|KIAA0625|Sen1 owl:Class REACT:Q7Z333 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4462 biolink:NamedThing orphanet.nt glycoprotein NMB|glycoprotein nmb-like protein|glycoprotein nonmetastatic melanoma protein B|hematopoietic growth factor inducible neurokinin-1|HGFIN|NMB|osteoactivin|transmembrane glycoprotein owl:Class REACT:Q14956 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4478 biolink:NamedThing orphanet.nt LPA4|P2RY9|P2Y5-LIKE|P2Y9 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=94 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q99677 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4492 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=102 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q9HC97 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:449 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:44 biolink:NamedThing orphanet.nt D6S217E|PSF2|RING11 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=770 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q03519 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4507 biolink:NamedThing orphanet.nt GABABR2|GPRC3B|HG20 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=241 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O75899 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:450 biolink:NamedThing orphanet.nt FPP|KIAA1788|PFM owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4510 biolink:NamedThing orphanet.nt AXOR12|HOT7T175 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=266 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q969F8 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4512 biolink:NamedThing orphanet.nt TM7LN4|TM7XN1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=186 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4516 biolink:NamedThing orphanet.nt EDDM6|epididymal protein 6|HE6|TM7LN2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=187 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4519 biolink:NamedThing orphanet.nt OGR1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=114 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q15743 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:451 biolink:NamedThing orphanet.nt P504S|RACE owl:Class REACT:Q9UHK6 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:452 biolink:NamedThing orphanet.nt enamel matrix protein owl:Class REACT:Q9NP70 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4551 biolink:NamedThing orphanet.nt MRT14|TER|very-long-chain enoyl-CoA reductase owl:Class REACT:Q9NZ01 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4556 biolink:NamedThing orphanet.nt MCSP|PHGPx|phospholipid hydroperoxidase owl:Class REACT:P36969 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4562 biolink:NamedThing orphanet.nt owl:Class REACT:Q13588 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4570 biolink:NamedThing orphanet.nt PH2|primary hyperoxaluria type 2 owl:Class REACT:Q9UBQ7 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4573 biolink:NamedThing orphanet.nt GluA3|GLURC|MRX94 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=446 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P42263 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4576 biolink:NamedThing orphanet.nt GluD2|GluR-delta-2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=449 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4580 biolink:NamedThing orphanet.nt GluK2|MRT6 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=451 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q13002 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4584 biolink:NamedThing orphanet.nt GluN1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=455 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q05586 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4585 biolink:NamedThing orphanet.nt GluN2A owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=456 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q12879 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4586 biolink:NamedThing orphanet.nt GluN2B owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=457 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q13224 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4588 biolink:NamedThing orphanet.nt EB11|GluN2D|N-methyl-d-aspartate receptor subunit 2D|NR2D owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=459 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O15399 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4593 biolink:NamedThing orphanet.nt GPRC1A|mGlu1|MGLUR1|PPP1R85|protein phosphatase 1, regulatory subunit 85 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=289 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q13255 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4598 biolink:NamedThing orphanet.nt CSNB1B|GPRC1F|mGlu6|MGLUR6 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=294 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O15303 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:45 biolink:NamedThing orphanet.nt GBD1|MDR2|PFIC-3 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=771 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P21439 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4601 biolink:NamedThing orphanet.nt CLN11|PCDGF|PGRN|progranulin owl:Class REACT:P28799 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4612 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:461 biolink:NamedThing orphanet.nt amelogenesis imperfecta 1 owl:Class REACT:Q99217 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4620 biolink:NamedThing orphanet.nt amyloidosis, Finnish type|DKFZp313L0718 owl:Class REACT:P06396 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4623 biolink:NamedThing orphanet.nt glutathione S-reductase owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2613 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P00390 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4624 biolink:NamedThing orphanet.nt owl:Class REACT:P48637 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4635 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:464 biolink:NamedThing orphanet.nt MIS owl:Class REACT:P03971 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4651 biolink:NamedThing orphanet.nt FE|TF2E2|TFIIE-B|TFIIE beta subunit|Transcription initiation factor IIE subunit beta owl:Class REACT:P29084 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4659 biolink:NamedThing orphanet.nt BAP-135|BTKAP1|DIWS|IB291|SPIN|TFII-I owl:Class REACT:P78347 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:465 biolink:NamedThing orphanet.nt MISR2|MISRII|Muellerian inhibiting substance type II receptor owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1793 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q16671 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4661 biolink:NamedThing orphanet.nt BEN|binding factor for early enhancer|Cream1|GTF3|MusTRD1|RBAP2|WBSCR12 owl:Class REACT:Q9UHL9 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4678 biolink:NamedThing orphanet.nt COD3|cone dystrophy 3|CORD14|dJ139D8.6|GCAP|GCAP1 owl:Class REACT:P43080 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4679 biolink:NamedThing orphanet.nt GCAP2|RP48 owl:Class REACT:Q9UMX6 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:467 biolink:NamedThing orphanet.nt owl:Class REACT:Q9Y4X0 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4685 biolink:NamedThing orphanet.nt GC-SA3 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1288 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q02108 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4688 biolink:NamedThing orphanet.nt heat stable enterotoxin receptor|STAR|STA receptor owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1750 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P25092 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4689 biolink:NamedThing orphanet.nt CYGD|LCA1|retGC|RETGC-1|retinal guanylate cyclase 1|rod outer segment membrane guanylate cyclase|ROS-GC1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2031 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q02846 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:468 biolink:NamedThing orphanet.nt AMPD isoform M|MAD|MADA|skeletal muscle AMPD owl:Class REACT:P23109 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4696 biolink:NamedThing orphanet.nt owl:Class REACT:P08236 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4699 biolink:NamedThing orphanet.nt glycogenin glucosyltransferase owl:Class REACT:P46976 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:469 biolink:NamedThing orphanet.nt AMPD isoform L|SPG63 owl:Class REACT:Q01433 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4704 biolink:NamedThing orphanet.nt CD236|CD236R|Ge|GPC|GYPD owl:Class REACT:P04921 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4706 biolink:NamedThing orphanet.nt GSY owl:Class REACT:P13807 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4707 biolink:NamedThing orphanet.nt owl:Class REACT:P54840 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:470 biolink:NamedThing orphanet.nt erythrocyte-specific AMP deaminase owl:Class REACT:Q01432 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4713 biolink:NamedThing orphanet.nt ASM|ASM1|D11S813E|LINC00008|long intergenic non-protein coding RNA 8|MIR675HG|MIR675 host gene|NCRNA00008|non-protein coding RNA 8 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:473 biolink:NamedThing orphanet.nt GCST|glycine cleavage system protein T|NKH owl:Class REACT:P48728 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4740 biolink:NamedThing orphanet.nt macroH2A1.2 owl:Class REACT:O75367 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4795 biolink:NamedThing orphanet.nt 6-phosphogluconolactonase|GDH/6PGL endoplasmic bifunctional protein owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4796 biolink:NamedThing orphanet.nt owl:Class REACT:P46952 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4798 biolink:NamedThing orphanet.nt factor VII activating protein|FSAP|HABP|HGFAL|PHBP|plasma hyaluronan binding protein owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4799 biolink:NamedThing orphanet.nt HADH1|SCHAD owl:Class REACT:Q16836 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:47 biolink:NamedThing orphanet.nt ATP-binding cassette half-transporter|EST45597|MTABC3|umat owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=773 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q9NP58 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4800 biolink:NamedThing orphanet.nt 17b-HSD10|ABAD|AB-binding alcohol dehydrogenase|CAMR|ERAB|MHBD|mitochondrial RNase P subunit 2|MRPP2|SDR5C1|short chain dehydrogenase/reductase family 5C, member 1|type 10 17beta-hydroxysteroid dehydrogenase|type 10 17b-HSD owl:Class REACT:Q99714 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4801 biolink:NamedThing orphanet.nt gastrin-binding protein|GBP|LCEH|LCHAD|long-chain 2-enoyl-CoA hydratase|long-chain-3-hydroxyacyl-CoA dehydrogenase|mitochondrial trifunctional protein, alpha subunit|MTPA owl:Class REACT:P40939 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4803 biolink:NamedThing orphanet.nt mitochondrial trifunctional protein, beta subunit|MTPB owl:Class REACT:P55084 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4806 biolink:NamedThing orphanet.nt owl:Class REACT:P42357 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4808 biolink:NamedThing orphanet.nt bHLHa26|dHand|Hed|Thing2 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4816 biolink:NamedThing orphanet.nt HisRS|Histidine tRNA ligase 1, cytoplasmic|Jo-1 antigen owl:Class REACT:P12081 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4817 biolink:NamedThing orphanet.nt HARSR|histidine tRNA ligase 2, mitochondrial (putative)|HO3 owl:Class REACT:P49590 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4823 biolink:NamedThing orphanet.nt HBA-T3 owl:Class REACT:P69905 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4824 biolink:NamedThing orphanet.nt HBA-T2 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4827 biolink:NamedThing orphanet.nt beta-globin|CD113t-C owl:Class REACT:P68871 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4829 biolink:NamedThing orphanet.nt owl:Class REACT:P02042 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4831 biolink:NamedThing orphanet.nt HBG-T2 owl:Class REACT:P69891 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4832 biolink:NamedThing orphanet.nt HBG-T1 owl:Class REACT:P69892 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4837 biolink:NamedThing orphanet.nt CCHL|cytochrome c heme-lyase owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4839 biolink:NamedThing orphanet.nt CFF|HCF-1|HCF1|MGC70925|PPP1R89|protein phosphatase 1, regulatory subunit 89|VCAF|VP16-accessory protein owl:Class REACT:P51610 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:483 biolink:NamedThing orphanet.nt RAA1|ribonuclease A family member 5|RNASE5 owl:Class REACT:P03950 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4845 biolink:NamedThing orphanet.nt BCNG-1|HAC-2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=400 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O60741 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4847 biolink:NamedThing orphanet.nt orexin|OX|PPOX|prepro-orexin owl:Class REACT:O43612 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:484 biolink:NamedThing orphanet.nt Ang1|KIAA0003 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=4867 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q15389 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4851 biolink:NamedThing orphanet.nt IT15 owl:Class REACT:P42858 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4855 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1274 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P19113 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4861 biolink:NamedThing orphanet.nt LSH|Nbla10143|PASG|proliferation-associated SNF2-like protein|SMARCA6|SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6 owl:Class REACT:Q9NRZ9 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4867 biolink:NamedThing orphanet.nt p532|p619 owl:Class REACT:Q15751 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4868 biolink:NamedThing orphanet.nt D15F37S1|jdf2|p528 owl:Class REACT:O95714 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4877 biolink:NamedThing orphanet.nt ANF|RPX owl:Class REACT:Q9UBX0 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4878 biolink:NamedThing orphanet.nt beta-hexosaminidase subunit alpha|GM2 gangliosidosis|Tay Sachs disease owl:Class REACT:P06865 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4879 biolink:NamedThing orphanet.nt beta-hexosaminidase subunit beta owl:Class REACT:P07686 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4881 biolink:NamedThing orphanet.nt bHLHb32|HERP1|HESR2 owl:Class REACT:Q9UBP5 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4883 biolink:NamedThing orphanet.nt age-related maculopathy susceptibility 1|ARMD4|ARMS1|beta-1H|FHL1|H factor 2 (complement)|HUS owl:Class REACT:P08603 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4886 biolink:NamedThing orphanet.nt high Fe|HLA-H owl:Class REACT:Q30201 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4887 biolink:NamedThing orphanet.nt haemojuvelin|hemojuvelin|HFE2A|HJV|JH|repulsive guidance molecule c|RGMC owl:Class REACT:Q6ZVN8 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4888 biolink:NamedThing orphanet.nt CFHL|FHR1|H36-1|H36-2 owl:Class REACT:Q03591 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4890 biolink:NamedThing orphanet.nt FHR2 owl:Class REACT:P36980 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4892 biolink:NamedThing orphanet.nt HGO|homogentisate oxidase owl:Class REACT:Q93099 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4893 biolink:NamedThing orphanet.nt fibroblast-derived tumor cytotoxic factor|F-TCF|hepatopoietin A|HGFB|HPTA|lung fibroblast-derived mitogen|scatter factor|SF owl:Class REACT:P14210 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:48 biolink:NamedThing orphanet.nt ASAT|Atm1p|EST140535 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=774 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O75027 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4908 biolink:NamedThing orphanet.nt owl:Class REACT:Q6NVY1 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:49094 biolink:NamedThing orphanet.nt ILAS1-AS1 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4909 biolink:NamedThing orphanet.nt ZBTB29|ZNF901 owl:Class REACT:Q14526 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4912 biolink:NamedThing orphanet.nt PKCI-1 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4916 biolink:NamedThing orphanet.nt DGCR1|DiGeorge critical region gene 1|TUP1 owl:Class REACT:P54198 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:491 biolink:NamedThing orphanet.nt angiopoietin 5 owl:Class REACT:Q9Y5C1 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4921 biolink:NamedThing orphanet.nt c-myc intron binding protein 1|HIV-EP2|MBP-2|MIBP1|Schnurri-2|ZAS2|ZNF40B owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4922 biolink:NamedThing orphanet.nt owl:Class REACT:P19367 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:492 biolink:NamedThing orphanet.nt SPH1 owl:Class REACT:P16157 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4931 biolink:NamedThing orphanet.nt owl:Class REACT:P04439 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4932 biolink:NamedThing orphanet.nt owl:Class REACT:P30486 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4933 biolink:NamedThing orphanet.nt owl:Class REACT:P10321 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4938 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:493 biolink:NamedThing orphanet.nt owl:Class REACT:Q01484 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4940 biolink:NamedThing orphanet.nt owl:Class REACT:P04440 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4942 biolink:NamedThing orphanet.nt CELIAC1 owl:Class REACT:P01909 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4944 biolink:NamedThing orphanet.nt CELIAC1|IDDM1 owl:Class REACT:P01920 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4947 biolink:NamedThing orphanet.nt owl:Class REACT:P01903 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4948 biolink:NamedThing orphanet.nt owl:Class REACT:P04229 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:494 biolink:NamedThing orphanet.nt ankyrin-3, node of Ranvier|ankyrin-G owl:Class REACT:Q12955 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:496 biolink:NamedThing orphanet.nt ANKK2|DIK|PKC-delta-interacting protein kinase|PKK|Protein kinase C-associated kinase|RIP4 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2192 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P57078 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4976 biolink:NamedThing orphanet.nt HCS owl:Class REACT:P50747 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4977 biolink:NamedThing orphanet.nt MGC33822 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4978 biolink:NamedThing orphanet.nt HB24 owl:Class REACT:Q14774 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4979 biolink:NamedThing orphanet.nt HB9|HOXHB9|SCRA1 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:497 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=485 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O75762 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4982 biolink:NamedThing orphanet.nt owl:Class REACT:P08397 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5005 biolink:NamedThing orphanet.nt HL|hydroxymethylglutaricaciduria|hydroxymethylglutaryl-CoA lyase owl:Class REACT:P35914 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5008 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2432 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P54868 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5009 biolink:NamedThing orphanet.nt BABL|LIPO owl:Class REACT:P52926 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5013 biolink:NamedThing orphanet.nt bK286B10|HO-1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1441 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P09601 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5017 biolink:NamedThing orphanet.nt H6|NKX5-3 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5022 biolink:NamedThing orphanet.nt owl:Class REACT:Q9Y261 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5024 biolink:NamedThing orphanet.nt HNF4|NR2A1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=608 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P41235 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5028 biolink:NamedThing orphanet.nt owl:Class REACT:P50135 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5031 biolink:NamedThing orphanet.nt ALS20|hnRNP-A1|hnRNPA1 owl:Class REACT:P09651 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5033 biolink:NamedThing orphanet.nt owl:Class REACT:P22626 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5037 biolink:NamedThing orphanet.nt JKTBP|laAUF1 owl:Class REACT:O14979 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5041 biolink:NamedThing orphanet.nt hnRNPH owl:Class REACT:P31943 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5044 biolink:NamedThing orphanet.nt CSBP|transformation upregulated nuclear protein|TUNP owl:Class REACT:P61978 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5048 biolink:NamedThing orphanet.nt FLJ30202|FLJ37978|SAF-A|scaffold attachment factor A owl:Class REACT:Q00839 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5056 biolink:NamedThing orphanet.nt Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch)|homeo box 11 (T-cell lymphoma 3-associated breakpoint) owl:Class REACT:P31314 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:50800 biolink:NamedThing orphanet.nt owl:Class REACT:Q9UBX2 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5099 biolink:NamedThing orphanet.nt owl:Class REACT:P49639 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5101 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5102 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5103 biolink:NamedThing orphanet.nt owl:Class REACT:O43364 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5111 biolink:NamedThing orphanet.nt owl:Class REACT:P14653 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5112 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5125 biolink:NamedThing orphanet.nt owl:Class REACT:P31276 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5133 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5136 biolink:NamedThing orphanet.nt owl:Class REACT:P35453 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5144 biolink:NamedThing orphanet.nt owl:Class REACT:P84074 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5147 biolink:NamedThing orphanet.nt 4-HPPD|4HPPD|GLOD3|glyoxalase domain containing 3 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2621 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P32754 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5154 biolink:NamedThing orphanet.nt 15-hydroxyprostaglandin dehydrogenase (NAD(+))|SDR36C1|short chain dehydrogenase/reductase family 36C, member 1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1384 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P15428 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5157 biolink:NamedThing orphanet.nt HGPRT|Lesch-Nyhan syndrome owl:Class REACT:P00492 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5163 biolink:NamedThing orphanet.nt BLOC3S1 owl:Class REACT:Q92902 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5172 biolink:NamedThing orphanet.nt AU owl:Class REACT:O43593 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5173 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2822 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P01112 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5181 biolink:NamedThing orphanet.nt histidine-proline rich glycoprotein|HPRG|HRGP|thrombophilia due to elevated HRG owl:Class REACT:P04196 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:51 biolink:NamedThing orphanet.nt GS-X owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=779 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P33527 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5201 biolink:NamedThing orphanet.nt owl:Class REACT:O60243 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5208 biolink:NamedThing orphanet.nt SDR26C1|short chain dehydrogenase/reductase family 26C, member 1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2763 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P28845 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5209 biolink:NamedThing orphanet.nt SDR9C3|short chain dehydrogenase/reductase family 9C, member 3 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3143 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P80365 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5212 biolink:NamedThing orphanet.nt SDR12C2|short chain dehydrogenase/reductase family 12C, member 2 owl:Class REACT:P37058 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5213 biolink:NamedThing orphanet.nt 17beta-estradiol dehydrogenase type IV|17-beta-HSD IV|17-beta-hydroxysteroid dehydrogenase 4|3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase|beta-hydroxyacyl dehydrogenase|beta-keto-reductase|D-3-hydroxyacyl-CoA dehydratase|D-bifunctional protein, peroxisomal|DBP|MFE-2|peroxisomal multifunctional protein 2|SDR8C1|short chain dehydrogenase/reductase family 8C, member 1 owl:Class REACT:P51659 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5218 biolink:NamedThing orphanet.nt SDR11E2|short chain dehydrogenase/reductase family 11E, member 2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2622 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P26439 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5227 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5228 biolink:NamedThing orphanet.nt CMT2T|HSPF3 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5244 biolink:NamedThing orphanet.nt 75 kDa glucose-regulated protein|GRP75|mortalin|mortalin2|mot-2|mthsp75|PBP74|Stress-70 protein, mitochondrial owl:Class REACT:P38646 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5246 biolink:NamedThing orphanet.nt CMT2F|Hs.76067|Hsp25|HSP27|HSP28 owl:Class REACT:P04792 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5248 biolink:NamedThing orphanet.nt HSPL27 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5261 biolink:NamedThing orphanet.nt GROEL|HSP60 owl:Class REACT:P10809 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5270 biolink:NamedThing orphanet.nt Hsp40|radial spoke 16 homolog B (Chlamydomonas)|RSPH16B|Sis1 owl:Class REACT:P25685 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5273 biolink:NamedThing orphanet.nt perlecan|perlecan proteoglycan|PRCAN owl:Class REACT:P98160 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5286 biolink:NamedThing orphanet.nt 5-HT1A owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P08908 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5318 biolink:NamedThing orphanet.nt hexabrachion (tenascin)|MGC167029|TN owl:Class REACT:P24821 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5320 biolink:NamedThing orphanet.nt FUS2|HYAL-1|LUCA1|NAT6 owl:Class REACT:Q12794 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5321 biolink:NamedThing orphanet.nt LuCa-2|LUCA2|lysosomal hyaluronidase|PH-20 homolog owl:Class REACT:Q12891 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5326 biolink:NamedThing orphanet.nt NCRNA00020|non-protein coding RNA 20 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5330 biolink:NamedThing orphanet.nt IARS1|ILRS|isoleucine tRNA ligase 1, cytoplasmic owl:Class REACT:P41252 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5331 biolink:NamedThing orphanet.nt BLAU|CD|CLR16.3|NLRC2|NLR family, CARD domain containing 2|NOD-like receptor C2|nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2|PSORAS1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1763 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q9HC29 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5351 biolink:NamedThing orphanet.nt activation-inducible lymphocyte immunomediatory molecule|AILIM|CD278 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2939 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q9Y6W8 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5358 biolink:NamedThing orphanet.nt ICSBP|IRF-8 owl:Class REACT:Q02556 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:535 biolink:NamedThing orphanet.nt owl:Class REACT:P50995 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5382 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2884 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O75874 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5383 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2885 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P48735 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5384 biolink:NamedThing orphanet.nt H-IDH alpha|isocitrate dehydrogenase (NAD+) alpha chain|isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial|isocitric dehydrogenase|NAD(H)-specific isocitrate dehydrogenase alpha subunit|NAD+-specific ICDH owl:Class REACT:P50213 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5385 biolink:NamedThing orphanet.nt RP46 owl:Class REACT:O43837 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5389 biolink:NamedThing orphanet.nt Hunter syndrome owl:Class REACT:P22304 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5391 biolink:NamedThing orphanet.nt MPS1 owl:Class REACT:P35475 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:53924 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5394 biolink:NamedThing orphanet.nt C3b-INA|C3b-inactivator|FI|KAF|Konglutinogen-activating factor owl:Class REACT:P05156 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:53 biolink:NamedThing orphanet.nt cMRP|DJS|MRP2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=780 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q92887 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5401 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2778 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5433 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1724 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P48551 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5438 biolink:NamedThing orphanet.nt owl:Class REACT:P01579 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5439 biolink:NamedThing orphanet.nt CD119 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1725 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P15260 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5440 biolink:NamedThing orphanet.nt AF-1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1726 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P38484 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5456 biolink:NamedThing orphanet.nt PC4|TIS7 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5461 biolink:NamedThing orphanet.nt alpha 4 owl:Class REACT:P78318 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5464 biolink:NamedThing orphanet.nt IGF|IGF1A|IGF-I|IGFI|somatomedin C owl:Class REACT:P05019 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5465 biolink:NamedThing orphanet.nt CD221|IGFIR|IGFR|JTK13|MGC18216 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1801 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P08069 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5466 biolink:NamedThing orphanet.nt FLJ44734|IGF-II|preptin|somatomedin A owl:Class REACT:P01344 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5468 biolink:NamedThing orphanet.nt ALS owl:Class REACT:P35858 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5476 biolink:NamedThing orphanet.nt FSTL2|IGFBP-7|MAC25|PSF owl:Class REACT:Q16270 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5477 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:54925 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5525 biolink:NamedThing orphanet.nt owl:Class REACT:P01857 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5526 biolink:NamedThing orphanet.nt owl:Class REACT:P01859 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5541 biolink:NamedThing orphanet.nt owl:Class REACT:P01871 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5542 biolink:NamedThing orphanet.nt cardiac transcription factor 1|CATF1|CMT2S|HCSA|HMN6|SMARD1|SMUBP2|ZFAND7|zinc finger, AN1-type domain 7 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:554 biolink:NamedThing orphanet.nt AP105A|BAM22 owl:Class REACT:Q10567 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5586 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:559 biolink:NamedThing orphanet.nt AP19|AP-1 complex subunit sigma-1A|clathrin assembly protein complex 1 sigma-1A small chain|clathrin-associated/assembly/adaptor protein, small 1 (19kD)|clathrin coat assembly protein AP19|golgi adaptor HA1/AP1 adaptin sigma-1A subunit|HA1 19 kDa subunit|SIGMA1A|sigma1A-adaptin|sigma1A subunit of AP-1 clathrin adaptor complex|WUGSC:H_DJ0747G18.2 owl:Class REACT:P61966 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:560 biolink:NamedThing orphanet.nt SIGMA1B owl:Class REACT:P56377 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:564 biolink:NamedThing orphanet.nt AP-2 mu 2 chain|AP50|clathrin adaptor complex AP2, mu subunit|clathrin assembly protein complex 2 medium chain|clathrin-associated/assembly/adaptor protein, medium 1|clathrin coat adaptor protein AP50|HA2 50 kDA subunit|mu2|plasma membrane adaptor AP-2 50kDA protein owl:Class REACT:Q96CW1 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5650 biolink:NamedThing orphanet.nt owl:Class REACT:P06331 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:565 biolink:NamedThing orphanet.nt FBH3|FBHOk owl:Class REACT:P53680 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:566 biolink:NamedThing orphanet.nt ADTB3A|HPS2 owl:Class REACT:O00203 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:567 biolink:NamedThing orphanet.nt NAPTB owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:568 biolink:NamedThing orphanet.nt ADTD owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5716 biolink:NamedThing orphanet.nt HCAK1 owl:Class REACT:P01834 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5724 biolink:NamedThing orphanet.nt CBF1|IGKJRB|KBF2|RBP-J|RBPJK|SUH|Suppressor of hairless homolog (Drosophila) owl:Class REACT:Q06330 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:572 biolink:NamedThing orphanet.nt AP-4 complex subunit beta-1|BETA-4|beta 4 subunit of AP-4 owl:Class REACT:Q9Y6B7 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:573 biolink:NamedThing orphanet.nt AP-4-EPSILON|SPG51 owl:Class REACT:Q9UPM8 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:574 biolink:NamedThing orphanet.nt adaptor-related protein complex AP-4 mu4 subunit|AP-4 adapter complex mu subunit|MU-4|mu-adaptin-related protein-2|MU-ARP2|mu subunit of AP-4|SPG50 owl:Class REACT:O00189 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:575 biolink:NamedThing orphanet.nt AP47B|CLA20|SPG52 owl:Class REACT:Q9Y587 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:57 biolink:NamedThing orphanet.nt EST349056|MLP1|MRP6|URG7 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=784 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O95255 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:583 biolink:NamedThing orphanet.nt DP2|DP2.5|DP3|PPP1R46|protein phosphatase 1, regulatory subunit 46 owl:Class REACT:P25054 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5870 biolink:NamedThing orphanet.nt 14.1|CD179B|IGL5|IGVPB|lambda 5 owl:Class REACT:P15814 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:591 biolink:NamedThing orphanet.nt apoptosis inhibitor 2|c-IAP2|cIAP2|hiap-1|inhibitor of apoptosis protein 1|MALT2|mammalian IAP homolog C|MIHC|RNF49|TNFR2-TRAF signaling complex protein owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2792 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q13489 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:592 biolink:NamedThing orphanet.nt hILP|IAP-like protein 1|ILP-1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2790 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P98170 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5948 biolink:NamedThing orphanet.nt IGCD1|IGDC1|INHBP|KIAA0364|MGC75490|PGSF2 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5950 biolink:NamedThing orphanet.nt EWI-3|MGC117164|V8 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5956 biolink:NamedThing orphanet.nt BDA1|HHG2 owl:Class REACT:Q14623 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5959 biolink:NamedThing orphanet.nt elongator acetyltransferase complex subunit 1|IKAP|IKI3|TOT1 owl:Class REACT:O95163 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5960 biolink:NamedThing orphanet.nt IKK2|IKKB|IKK-beta|NFKBIKB owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2039 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O14920 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5961 biolink:NamedThing orphanet.nt FIP-3|FIP3|Fip3p|IKK-gamma|NEMO|ZC2HC9 owl:Class REACT:Q9Y6K9 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5962 biolink:NamedThing orphanet.nt CSIF|cytokine synthesis inhibitory factor|IL-10|IL10A|T-cell growth inhibitory factor|TGIF owl:Class REACT:P22301 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5964 biolink:NamedThing orphanet.nt CD210|CD210a|CDW210A|HIL-10R owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1727 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q13651 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5965 biolink:NamedThing orphanet.nt CDW210B|CRF2-4|IL-10R2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1728 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q08334 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5967 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1709 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q14626 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5969 biolink:NamedThing orphanet.nt CLMF|cytotoxic lymphocyte maturation factor 1, p35|IL-12A|IL-12, subunit p35|IL35 subunit|interleukin-12 alpha chain|interleukin 12, p35|natural killer cell stimulatory factor 1, 35 kD subunit|NF cell stimulatory factor chain 1|NFSK|p35 owl:Class REACT:P29459 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5970 biolink:NamedThing orphanet.nt CLMF|CLMF2|cytotoxic lymphocyte maturation factor 2, p40|IL-12B|IL12, subunit p40|interleukin-12 beta chain|interleukin 12, p40|natural killer cell stimulatory factor-2|natural killer cell stimulatory factor, 40 kD subunit|NKSF owl:Class REACT:P29460 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5971 biolink:NamedThing orphanet.nt CD212 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1715 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P42701 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5985 biolink:NamedThing orphanet.nt CD217|CDw217|hIL-17R|IL-17RA owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1738 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q96F46 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5996 biolink:NamedThing orphanet.nt IL1R8|OPHN4|TIGIRR-2 owl:Class REACT:Q9NZN1 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:59 biolink:NamedThing orphanet.nt ABC36|HHF1|HI|MRP8|PHHI|sulfonylurea receptor (hyperinsulinemia)|SUR1|TNDM2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2594 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q09428 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6000 biolink:NamedThing orphanet.nt ICIL-1RA|IL1F3|IL1RA|IL-1RN|interleukin-1 receptor antagonist protein|intracellular interleukin-1 receptor antagonist|IRAP|MGC10430 owl:Class REACT:P18510 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6005 biolink:NamedThing orphanet.nt IL-21|Za11 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6006 biolink:NamedThing orphanet.nt CD360 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1703 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6008 biolink:NamedThing orphanet.nt CD25 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1695 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P01589 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6009 biolink:NamedThing orphanet.nt CD122 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1696 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P14784 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:600 biolink:NamedThing orphanet.nt owl:Class REACT:P02647 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6010 biolink:NamedThing orphanet.nt CD132 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2303 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P31785 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6018 biolink:NamedThing orphanet.nt BSF2|HGF|HSF|IL-6|interferon, beta 2 owl:Class REACT:P05231 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:601 biolink:NamedThing orphanet.nt owl:Class REACT:P02652 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6023 biolink:NamedThing orphanet.nt IL-7 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=4999 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P13232 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6024 biolink:NamedThing orphanet.nt CD127|IL7RA owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1698 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P16871 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6027 biolink:NamedThing orphanet.nt CD182|CMKAR2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=69 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P25025 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:603 biolink:NamedThing orphanet.nt owl:Class REACT:P04114 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6052 biolink:NamedThing orphanet.nt LCA11|sWSS2608 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2624 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P20839 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6055 biolink:NamedThing orphanet.nt GP147|IPM150 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6062 biolink:NamedThing orphanet.nt growth inhibitor ING1|growth inhibitory protein ING1|inhibitor of growth 1|p24ING1c|p33|p33ING1|p33ING1b|p47|p47ING1a|tumor suppressor ING1 owl:Class REACT:Q9UK53 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6065 biolink:NamedThing orphanet.nt owl:Class REACT:P05111 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6066 biolink:NamedThing orphanet.nt owl:Class REACT:P08476 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6080 biolink:NamedThing orphanet.nt 51C protein|phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2|SH2 domain-containing inositol 5'-phosphatase 2|SHIP2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1459 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O15357 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6081 biolink:NamedThing orphanet.nt owl:Class REACT:P01308 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6091 biolink:NamedThing orphanet.nt CD220 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1800 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P06213 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:609 biolink:NamedThing orphanet.nt owl:Class REACT:P02655 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:60 biolink:NamedThing orphanet.nt CMD1O|sulfonylurea receptor 2|SUR2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2746 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O60706 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6106 biolink:NamedThing orphanet.nt AIID|DIETER|JM2|PIDX|SCURFIN|XPID owl:Class REACT:Q9BZS1 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6107 biolink:NamedThing orphanet.nt IDX-1|MODY4|PDX-1|somatostatin transcription factor 1|STF-1 owl:Class REACT:P52945 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:610 biolink:NamedThing orphanet.nt owl:Class REACT:P02656 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6112 biolink:NamedThing orphanet.nt IRAK|pelle owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2042 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P51617 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6120 biolink:NamedThing orphanet.nt owl:Class REACT:Q13568 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6121 biolink:NamedThing orphanet.nt OFC6|VWS1 owl:Class REACT:O14896 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6122 biolink:NamedThing orphanet.nt owl:Class REACT:Q92985 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6132 biolink:NamedThing orphanet.nt Isl-1|ISLET1 owl:Class REACT:P61371 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6137 biolink:NamedThing orphanet.nt alpha 2 subunit of VLA-2 receptor|CD49b owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2440 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P17301 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6138 biolink:NamedThing orphanet.nt CD41|CD41B|platelet glycoprotein IIb of IIb/IIIa complex|PPP1R93|protein phosphatase 1, regulatory subunit 93 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2441 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P08514 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6139 biolink:NamedThing orphanet.nt alpha 3 subunit of VLA-3 receptor|antigen CD49C|CD49c|GAP-B3|VCA-2|VLA3a owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2442 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P26006 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:613 biolink:NamedThing orphanet.nt owl:Class REACT:P02649 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6142 biolink:NamedThing orphanet.nt CD49f owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2445 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P23229 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6143 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2446 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q13683 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6144 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2447 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P53708 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6149 biolink:NamedThing orphanet.nt CD11b|complement component 3 receptor 3 subunit|MAC-1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2452 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P11215 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6155 biolink:NamedThing orphanet.nt complement component 3 receptor 3 and 4 subunit|LFA-1|MAC-1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2456 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P05107 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6156 biolink:NamedThing orphanet.nt antigen CD61|CD61|GPIIIa|platelet glycoprotein IIIa owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2457 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P05106 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6158 biolink:NamedThing orphanet.nt CD104 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2458 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P16144 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6161 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2460 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P18564 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6171 biolink:NamedThing orphanet.nt EMT|LYK|PSCTK2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2046 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q08881 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6172 biolink:NamedThing orphanet.nt dolichyl-diphosphooligosaccharide protein glycotransferase|MGC9042|STT3-A|TMC owl:Class REACT:P46977 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6173 biolink:NamedThing orphanet.nt BRICD2A|BRICHOS domain containing 2A|E25A owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6174 biolink:NamedThing orphanet.nt BRI|BRI2|BRICD2B|BRICHOS domain containing 2B|E25B|E3-16 owl:Class REACT:Q9Y287 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6176 biolink:NamedThing orphanet.nt dJ794I6.3|HLC14-06-P|nucleoside-triphosphate diphosphatase owl:Class REACT:Q9BY32 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6180 biolink:NamedThing orphanet.nt ACV|Insp3r1|IP3R1|PPP1R94|protein phosphatase 1, regulatory subunit 94 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=743 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q14643 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6181 biolink:NamedThing orphanet.nt CFAP48|cilia and flagella associated protein 48|IP3R2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=744 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q14571 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6186 biolink:NamedThing orphanet.nt ACAD2 owl:Class REACT:P26440 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6188 biolink:NamedThing orphanet.nt AHD|AWS|CD339|HJ1 owl:Class REACT:P78504 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:618 biolink:NamedThing orphanet.nt owl:Class REACT:O14791 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6190 biolink:NamedThing orphanet.nt JAK1A|JTK3 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2047 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6192 biolink:NamedThing orphanet.nt JTK10 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2048 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O60674 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6193 biolink:NamedThing orphanet.nt JAK-3|JAK3_HUMAN|JAKL|leukocyte Janus kinase|L-JAK|LJAK|tyrosine-protein kinase JAK3 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2049 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P52333 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6196 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6199 biolink:NamedThing orphanet.nt jerky|JH8 owl:Class REACT:O75564 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:61 biolink:NamedThing orphanet.nt adrenoleukodystrophy|ALDP|AMN owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=788 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P33897 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6207 biolink:NamedThing orphanet.nt DP3|DPIII|PDGB|PKGB owl:Class REACT:P14923 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:620 biolink:NamedThing orphanet.nt peptidase nexin-II owl:Class REACT:P05067 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6211 biolink:NamedThing orphanet.nt Adhesion molecule-like, X-linked|anosmin-1|KALIG-1|Kallmann syndrome interval gene 1|WAP four-disulfide core domain 19|WFDC19 owl:Class REACT:P23352 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6215 biolink:NamedThing orphanet.nt KARS1|KARS2|lysine tRNA ligase owl:Class REACT:Q15046 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6217 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6218 biolink:NamedThing orphanet.nt HUK1|Kv1.1|MBK1|RBK1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=538 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q09470 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6220 biolink:NamedThing orphanet.nt HK4|Kv1.2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=539 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P16389 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6224 biolink:NamedThing orphanet.nt HK2|HPCN1|Kv1.5 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=542 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P22460 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6229 biolink:NamedThing orphanet.nt AKR6A5|HKvbeta2.1|HKvbeta2.2|KCNA2B owl:Class REACT:Q13303 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6231 biolink:NamedThing orphanet.nt Kv2.1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=546 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q14721 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6233 biolink:NamedThing orphanet.nt Kv3.1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=548 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P48547 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6235 biolink:NamedThing orphanet.nt Kv3.3 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=550 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q14003 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6239 biolink:NamedThing orphanet.nt KSHIVB|Kv4.3 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=554 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q9UK17 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6240 biolink:NamedThing orphanet.nt ISK|JLNS2|LQT5|minK owl:Class REACT:P15382 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6241 biolink:NamedThing orphanet.nt owl:Class REACT:Q9UJ90 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6242 biolink:NamedThing orphanet.nt LQT6|MiRP1 owl:Class REACT:Q9Y6J6 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6243 biolink:NamedThing orphanet.nt HOKPP|MiRP2 owl:Class REACT:Q9Y6H6 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6250 biolink:NamedThing orphanet.nt eag|eag1|h-eag|Kv10.1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=570 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O95259 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6251 biolink:NamedThing orphanet.nt erg1|HERG|Kv11.1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=572 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q12809 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6255 biolink:NamedThing orphanet.nt ATP-sensitive inward rectifier potassium channel 1|Kir1.1|ROMK1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=429 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P48048 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6256 biolink:NamedThing orphanet.nt Kir1.2|Kir4.1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=438 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P78508 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6257 biolink:NamedThing orphanet.nt ATP-sensitive inward rectifier potassium channel 11|BIR|Kir6.2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=442 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q14654 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6259 biolink:NamedThing orphanet.nt Kir1.4|Kir7.1|LCA16 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=443 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6263 biolink:NamedThing orphanet.nt IRK1|Kir2.1|LQT7 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=430 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P63252 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6266 biolink:NamedThing orphanet.nt CIR|GIRK4|G protein-activated inward rectifier potassium channel 4|KATP1|Kir3.4|LQT13 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=437 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P48544 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6267 biolink:NamedThing orphanet.nt BIR1|GIRK2|hiGIRK2|KATP2|Kir3.2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=435 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P48051 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6269 biolink:NamedThing orphanet.nt Kir6.1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=441 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q15842 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:626 biolink:NamedThing orphanet.nt owl:Class REACT:P07741 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6278 biolink:NamedThing orphanet.nt K2p3.1|TASK|TASK-1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=515 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O14649 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6283 biolink:NamedThing orphanet.nt K2p9.1|TASK-3|TASK3 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=520 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q9NPC2 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6284 biolink:NamedThing orphanet.nt big potassium channel alpha subunit|BK channel alpha subunit|KCa1.1|maxiK channel|mSLO1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=380 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q12791 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6292 biolink:NamedThing orphanet.nt hSK3|KCa2.3|SKCA3|small conductance calcium-activated potassium channel 3 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=383 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q9UGI6 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6293 biolink:NamedThing orphanet.nt hIKCa1|hKCa4|hSK4|IK|intermediate conductance calcium-activated potassium channel|KCa3.1|small conductance calcium-activated potassium channel 4 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=384 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O15554 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6294 biolink:NamedThing orphanet.nt Jervell and Lange-Nielsen syndrome 1|JLNS1|KCNA8|Kv7.1|KVLQT1|LQT1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=560 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P51787 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6295 biolink:NamedThing orphanet.nt KCNQ1 antisense RNA 2 (non-protein coding)|KCNQ1-AS2|KCNQ1 overlapping transcript 1 (non-protein coding)|KvDMR1|KvLQT1-AS|LIT1|NCRNA00012|non-protein coding RNA 12 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6296 biolink:NamedThing orphanet.nt BFNC|ENB1|HNSPC|KCNA11|Kv7.2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=561 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O43526 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6297 biolink:NamedThing orphanet.nt Kv7.3 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=562 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O43525 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6298 biolink:NamedThing orphanet.nt Kv7.4 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=563 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P56696 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6299 biolink:NamedThing orphanet.nt Kv7.5 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=564 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q9NR82 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6305 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6307 biolink:NamedThing orphanet.nt CD309|fetal liver kinase 1|FLK1|vascular endothelial growth factor receptor 2|VEGFR|VEGFR2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1813 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P35968 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6309 biolink:NamedThing orphanet.nt keratocan proteoglycan|SLRR2B owl:Class REACT:O60938 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6315 biolink:NamedThing orphanet.nt fructokinase owl:Class REACT:P50053 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6317 biolink:NamedThing orphanet.nt SPAX2|SPG58 owl:Class REACT:O43896 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6323 biolink:NamedThing orphanet.nt D12S1889|MY050|NKHC owl:Class REACT:Q12840 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6341 biolink:NamedThing orphanet.nt kisspeptin|prepro-kisspeptin owl:Class REACT:Q15726 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6342 biolink:NamedThing orphanet.nt CD117|C-Kit|mast/stem cell growth factor receptor Kit|SCFR owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1805 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P10721 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6343 biolink:NamedThing orphanet.nt DFNA69|familial progressive hyperpigmentation 2|FPH2|Kitl|KL-1|mast cell growth factor|SCF|SF|SLF|steel factor|stem cell factor owl:Class REACT:P21583 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6344 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3146 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q9UEF7 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6345 biolink:NamedThing orphanet.nt EKLF|erythroid Kruppel-like factor owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:634 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=689 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P41181 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6354 biolink:NamedThing orphanet.nt KIAA1129 owl:Class REACT:Q9UH77 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6365 biolink:NamedThing orphanet.nt EMSP|EMSP1|enamel matrix serine proteinase 1|KLK-L1|PSTS owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2374 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6371 biolink:NamedThing orphanet.nt Fletcher factor owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2379 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P03952 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6377 biolink:NamedThing orphanet.nt NKG2-F owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6383 biolink:NamedThing orphanet.nt alpha-2-thiol proteinase inhibitor|BK|bradykinin owl:Class REACT:P01042 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6388 biolink:NamedThing orphanet.nt Eg5|HKSP|TRIP5 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2788 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P52732 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:638 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=692 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P55064 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6391 biolink:NamedThing orphanet.nt Kid|OBP-1|OBP-2 owl:Class REACT:Q14807 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6392 biolink:NamedThing orphanet.nt MKLP-1|MKLP1 owl:Class REACT:Q02241 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6404 biolink:NamedThing orphanet.nt 2E4 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6407 biolink:NamedThing orphanet.nt KRAS1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2824 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P01116 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6408 biolink:NamedThing orphanet.nt owl:Class REACT:Q9Y5Q3 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6412 biolink:NamedThing orphanet.nt KRT1A owl:Class REACT:P04264 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6413 biolink:NamedThing orphanet.nt CK10|cytokeratin 10|epidermolytic hyperkeratosis|K10 owl:Class REACT:P13645 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6414 biolink:NamedThing orphanet.nt K12|Meesmann corneal dystrophy owl:Class REACT:Q99456 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6415 biolink:NamedThing orphanet.nt CK13|cytokeratin 13|K13|keratin, type I cytoskeletal 13|MGC161462|MGC3781 owl:Class REACT:P13646 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6416 biolink:NamedThing orphanet.nt epidermolysis bullosa simplex, Dowling-Meara, Koebner owl:Class REACT:P02533 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6423 biolink:NamedThing orphanet.nt focal non-epidermolytic palmoplantar keratoderma|NEPPK owl:Class REACT:P08779 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6427 biolink:NamedThing orphanet.nt owl:Class REACT:Q04695 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6439 biolink:NamedThing orphanet.nt epidermal ichthyosis bullosa of Siemens|KRTE owl:Class REACT:P35908 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6440 biolink:NamedThing orphanet.nt CK3|cytokeratin 3|K3|keratin, type II cytoskeletal 3 owl:Class REACT:P12035 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6441 biolink:NamedThing orphanet.nt CK4|cytokeratin 4|K4|keratin, type II cytoskeletal 4 owl:Class REACT:P19013 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6442 biolink:NamedThing orphanet.nt KRT5A owl:Class REACT:P13647 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6443 biolink:NamedThing orphanet.nt CK6C|CK6D|K6C|K6D owl:Class REACT:P02538 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6444 biolink:NamedThing orphanet.nt owl:Class REACT:P04259 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6447 biolink:NamedThing orphanet.nt CK-9|cytokeratin 9|epidermolytic palmoplantar keratoderma|EPPK|K9|type I cytoskeletal 9 owl:Class REACT:P35527 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:644 biolink:NamedThing orphanet.nt AIS|HUMARA|Kennedy disease|NR3C4|SMAX1|testicular feminization owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=628 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P10275 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6458 biolink:NamedThing orphanet.nt hard keratin type II 1|Hb-1 owl:Class REACT:Q14533 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6460 biolink:NamedThing orphanet.nt hard keratin type II|Hb-3 owl:Class REACT:P78385 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6462 biolink:NamedThing orphanet.nt hard keratin type II|Hb-5 owl:Class REACT:P78386 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6463 biolink:NamedThing orphanet.nt hard keratin type II 6|Hb6|MNX owl:Class REACT:O43790 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6469 biolink:NamedThing orphanet.nt L-kynurenine hydrolase owl:Class REACT:Q16719 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6470 biolink:NamedThing orphanet.nt CD171|neural cell adhesion molecule L1 owl:Class REACT:P32004 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6481 biolink:NamedThing orphanet.nt owl:Class REACT:P25391 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6482 biolink:NamedThing orphanet.nt congenital muscular dystrophy|merosin owl:Class REACT:P24043 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6483 biolink:NamedThing orphanet.nt BM600-150kDa|epiligrin|kalinin-165kDa|nicein-150kDa owl:Class REACT:Q16787 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6484 biolink:NamedThing orphanet.nt LAMA3 owl:Class REACT:Q16363 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6485 biolink:NamedThing orphanet.nt owl:Class REACT:O15230 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6486 biolink:NamedThing orphanet.nt owl:Class REACT:P07942 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6487 biolink:NamedThing orphanet.nt laminin S|NPHS5 owl:Class REACT:P55268 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6490 biolink:NamedThing orphanet.nt BM600-125kDa|kalinin-140kDa|nicein-125kDa owl:Class REACT:Q13751 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6493 biolink:NamedThing orphanet.nt BM600-100kDa|kalinin-105kDa|nicein-100kDa owl:Class REACT:Q13753 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6494 biolink:NamedThing orphanet.nt DKFZp434E202 owl:Class REACT:Q9Y6N6 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6501 biolink:NamedThing orphanet.nt CD107b owl:Class REACT:P13473 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6502 biolink:NamedThing orphanet.nt 37LRP|LRP|p40|SA owl:Class REACT:P08865 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6511 biolink:NamedThing orphanet.nt KIAA0609|like-acetylglucosaminyltransferase owl:Class REACT:O95461 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6512 biolink:NamedThing orphanet.nt FLJ10595|FLJ21788|HSPC192|LARS1|leucine tRNA ligase 1, cytoplasmic|LEUS|RNTLS owl:Class REACT:Q9P2J5 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6518 biolink:NamedThing orphanet.nt DHCR14B|TDRD18|tudor domain containing 18 owl:Class REACT:Q14739 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6522 biolink:NamedThing orphanet.nt phosphatidylcholine--sterol O-acyltransferase owl:Class REACT:P04180 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6524 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2053 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P06239 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:652 biolink:NamedThing orphanet.nt owl:Class REACT:P84077 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6530 biolink:NamedThing orphanet.nt owl:Class REACT:P09848 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6535 biolink:NamedThing orphanet.nt owl:Class REACT:P00338 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6541 biolink:NamedThing orphanet.nt owl:Class REACT:P07195 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6545 biolink:NamedThing orphanet.nt KIAA1381 owl:Class REACT:Q8WTW3 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6546 biolink:NamedThing orphanet.nt owl:Class REACT:Q14746 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6547 biolink:NamedThing orphanet.nt familial hypercholesterolemia|LDLCQ2 owl:Class REACT:P01130 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6553 biolink:NamedThing orphanet.nt owl:Class REACT:P41159 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6554 biolink:NamedThing orphanet.nt CD295|OBR owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1712 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P48357 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6556 biolink:NamedThing orphanet.nt Mdm38 homolog (yeast)|SLC55A1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3025 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O95202 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6560 biolink:NamedThing orphanet.nt SCDO3 owl:Class REACT:Q8NES3 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6572 biolink:NamedThing orphanet.nt EPITEMPIN|ETL1|IB1099 owl:Class REACT:O95970 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6584 biolink:NamedThing orphanet.nt CGB4|hLHB|interstitial cell stimulating hormone, beta chain|LSH-B|luteinizing hormone beta subunit|lutropin, beta chain owl:Class REACT:P01229 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6585 biolink:NamedThing orphanet.nt LCGR|LGR2|LHR|ULG5 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=254 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P22888 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6593 biolink:NamedThing orphanet.nt LIM-1|LIM1 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6595 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6597 biolink:NamedThing orphanet.nt CD118 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1713 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P42702 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6601 biolink:NamedThing orphanet.nt DNA joinase|DNA repair enzyme|polydeoxyribonucleotide synthase [ATP] 4|polynucleotide ligase|sealase owl:Class REACT:P49917 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6610 biolink:NamedThing orphanet.nt MP17|MP19 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6613 biolink:NamedThing orphanet.nt LIMK owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2054 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P53667 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6617 biolink:NamedThing orphanet.nt CESD|LAL|lysosomal acid lipase|sterol esterase|Wolman disease owl:Class REACT:P38571 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6619 biolink:NamedThing orphanet.nt HL|HTGL|Triacylglycerol lipase owl:Class REACT:P11150 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6621 biolink:NamedThing orphanet.nt HSL owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2593 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q05469 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6631 biolink:NamedThing orphanet.nt endoplasmic reticulum-golgi intermediate compartment protein 53|ERGIC-53|ERGIC53|FMFD1|gp58|MCFD1|MR60 owl:Class REACT:P49257 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6636 biolink:NamedThing orphanet.nt HGPS|MADA|mandibuloacral dysplasia type A owl:Class REACT:P02545 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6637 biolink:NamedThing orphanet.nt owl:Class REACT:P20700 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6638 biolink:NamedThing orphanet.nt owl:Class REACT:Q03252 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:663 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1244 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P05089 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6641 biolink:NamedThing orphanet.nt RHOM1|TTG1 owl:Class REACT:P25800 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6647 biolink:NamedThing orphanet.nt 1D|64kD|D1 owl:Class REACT:P29536 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6649 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6654 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6663 biolink:NamedThing orphanet.nt owl:Class REACT:P23490 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6664 biolink:NamedThing orphanet.nt protein-lysine 6-oxidase owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3097 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P28300 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6665 biolink:NamedThing orphanet.nt LOL|LOXL owl:Class REACT:Q08397 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6677 biolink:NamedThing orphanet.nt owl:Class REACT:P06858 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:667 biolink:NamedThing orphanet.nt Rho12|RhoA|RHOH12 owl:Class REACT:P61586 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6685 biolink:NamedThing orphanet.nt LCA14|phosphatidylcholine--retinol O-acyltransferase owl:Class REACT:O95237 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6692 biolink:NamedThing orphanet.nt APOER|CD91|LRP|LRP1A|transforming growth factor-β receptor type V owl:Class REACT:Q07954 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6694 biolink:NamedThing orphanet.nt DBS|gp330|Megalin owl:Class REACT:P98164 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6696 biolink:NamedThing orphanet.nt CLSS|LRP-4|MEGF7|SOST2 owl:Class REACT:O75096 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6697 biolink:NamedThing orphanet.nt BMND1|EVR4|HBM|LR3|OPS|OPTA1|VBCH2 owl:Class REACT:O75197 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6698 biolink:NamedThing orphanet.nt ADCAD2 owl:Class REACT:O75581 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6701 biolink:NamedThing orphanet.nt HBP44 owl:Class REACT:P30533 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6708 biolink:NamedThing orphanet.nt OSC|Oxidosqualene-lanosterol cyclase owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2434 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P48449 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6715 biolink:NamedThing orphanet.nt owl:Class REACT:Q14767 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6716 biolink:NamedThing orphanet.nt owl:Class REACT:Q9NS15 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6717 biolink:NamedThing orphanet.nt FLJ46318|FLJ90018|LTBP-4|LTBP-4L owl:Class REACT:Q8N2S1 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6740 biolink:NamedThing orphanet.nt renal amyloidosis owl:Class REACT:P61626 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6741 biolink:NamedThing orphanet.nt BBS17 owl:Class REACT:Q9NQ48 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6742 biolink:NamedThing orphanet.nt BTBD29|LZTR-1 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6758 biolink:NamedThing orphanet.nt owl:Class REACT:Q9Y586 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6764 biolink:NamedThing orphanet.nt FANCV|MAD2B|mitotic arrest deficient homolog-like 2|polymerase (DNA-directed), zeta 2, accessory subunit|POLZ2|REV7 owl:Class REACT:Q9UI95 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6766 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6768 biolink:NamedThing orphanet.nt JV18-1|MADR2 owl:Class REACT:Q15796 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6769 biolink:NamedThing orphanet.nt HsT17436|JV15-2 owl:Class REACT:P84022 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6770 biolink:NamedThing orphanet.nt DPC4 owl:Class REACT:Q13485 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6772 biolink:NamedThing orphanet.nt HsT17432 owl:Class REACT:O43541 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6774 biolink:NamedThing orphanet.nt SMAD8|SMAD8/9 owl:Class REACT:O15198 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6776 biolink:NamedThing orphanet.nt c-MAF owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6783 biolink:NamedThing orphanet.nt sialic acid binding Ig-like lectin 4A|SIGLEC-4A|SIGLEC4A|S-MAG owl:Class REACT:P20916 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:678 biolink:NamedThing orphanet.nt RHOGDI owl:Class REACT:P52565 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6814 biolink:NamedThing orphanet.nt nM15 owl:Class REACT:Q9UJ55 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6816 biolink:NamedThing orphanet.nt dJ417M14.2|RP62 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2061 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P20794 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6819 biolink:NamedThing orphanet.nt MALT1 protease|paracaspase 1|PCASP1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2983 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q9UDY8 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6823 biolink:NamedThing orphanet.nt Alpha 1,2-mannosidase|Endoplasmic reticulum alpha-mannosidase 1|endoplasmic Reticulum Class I alpha-mannosidase|Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1|ER alpha 1,2-mannosidase|ERManI|Man9GlcNAc2-specific processing alpha-mannosidase|MANA-ER|MRT15 owl:Class REACT:Q9UKM7 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6826 biolink:NamedThing orphanet.nt LAMAN owl:Class REACT:O00754 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6831 biolink:NamedThing orphanet.nt beta-mannosidase A owl:Class REACT:O00462 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6833 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2489 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P21397 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6836 biolink:NamedThing orphanet.nt MAP5|PPP1R102|protein phosphatase 1, regulatory subunit 102 owl:Class REACT:P46821 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6840 biolink:NamedThing orphanet.nt MAPKK1|MEK1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2062 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q02750 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6842 biolink:NamedThing orphanet.nt MEK2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2063 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P36507 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6848 biolink:NamedThing orphanet.nt MAPKKK1|MEKK owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2069 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q13233 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6853 biolink:NamedThing orphanet.nt FTDCR1B|HS|HSNIK|NIK|serine/threonine protein-kinase owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2074 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q99558 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6858 biolink:NamedThing orphanet.nt apoptosis signal regulating kinase 2|ASK2|MAPKKK6|MEKK6 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2081 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O95382 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6859 biolink:NamedThing orphanet.nt MEKK7|TGF-beta activated kinase 1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2082 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O43318 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:685 biolink:NamedThing orphanet.nt alpha-PIX|alphaPIX|Cool-2|Cool2|KIAA0006|PAK-interacting exchange factor, alpha|Rac/Cdc42 guanine exchange factor (GEF) 6|rho guanine nucleotide exchange factor 6 owl:Class REACT:Q15052 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:686 biolink:NamedThing orphanet.nt RhoH|TTF owl:Class REACT:Q15669 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6871 biolink:NamedThing orphanet.nt ERK|ERK2|MAPK2|p41mapk owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1495 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P28482 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6872 biolink:NamedThing orphanet.nt JNK3|p493F12|p54bSAPK owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1498 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P53779 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6888 biolink:NamedThing orphanet.nt 3pK|3PK|MAPKAP3 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2095 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q16644 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6891 biolink:NamedThing orphanet.nt APC-binding protein EB1|EB1|EB2|RP1 owl:Class REACT:Q15555 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6893 biolink:NamedThing orphanet.nt FLJ31424|FTDP-17|G protein beta1/gamma2 subunit-interacting factor 1|MGC138549|microtubule-associated protein tau, isoform 4|MSTD|MTBT1|MTBT2|PPND|PPP1R103|protein phosphatase 1, regulatory subunit 103|tau owl:Class REACT:P10636 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6898 biolink:NamedThing orphanet.nt CMT2U|methionine tRNA ligase 1, cytoplasmic|MetRS|SPG70 owl:Class REACT:P56192 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:68 biolink:NamedThing orphanet.nt EST352188|P70R|PMP69 owl:Class REACT:O14678 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6901 biolink:NamedThing orphanet.nt C4/C2 activating component of Ra-reactive factor|MASP owl:Class REACT:P48740 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6902 biolink:NamedThing orphanet.nt owl:Class REACT:O00187 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6903 biolink:NamedThing orphanet.nt MAT|MATA1|S-adenosylmethionine synthetase|SAMS|SAMS1 owl:Class REACT:Q00266 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6904 biolink:NamedThing orphanet.nt MATA2|MATII|SAMS2 owl:Class REACT:P31153 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6909 biolink:NamedThing orphanet.nt EDM5|HOA owl:Class REACT:O15232 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6912 biolink:NamedThing orphanet.nt KIAA0723|MGC9105|VCPDM owl:Class REACT:P43243 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6913 biolink:NamedThing orphanet.nt bHLHd4|bHLHd5|bHLHd6|bHLHd7|bHLHd8 owl:Class REACT:P61244 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:691 biolink:NamedThing orphanet.nt CFEOM2|PMX2A owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6929 biolink:NamedThing orphanet.nt alpha melanocyte stimulating hormone receptor|MSH-R owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=282 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q01726 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6930 biolink:NamedThing orphanet.nt ACTHR|adrenocorticotropic hormone receptor owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=283 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q01718 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6931 biolink:NamedThing orphanet.nt MC3 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=284 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P41968 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6932 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=285 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P32245 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6936 biolink:NamedThing orphanet.nt MCCA|methylcrotonoyl-CoA carboxylase alpha owl:Class REACT:Q96RQ3 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6937 biolink:NamedThing orphanet.nt MCCB|methylcrotonoyl-CoA carboxylase beta owl:Class REACT:Q9HCC0 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6938 biolink:NamedThing orphanet.nt owl:Class REACT:Q9GZX3 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6944 biolink:NamedThing orphanet.nt BM28|cdc19|D3S3194|DFNA70|KIAA0030|mitotin owl:Class REACT:P49736 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6947 biolink:NamedThing orphanet.nt CDC54|DNA replication licensing factor MCM4|hCdc21|MGC33310|P1-Cdc21 owl:Class REACT:P33991 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6949 biolink:NamedThing orphanet.nt Mis5|MIS5 homolog (S.pombe) owl:Class REACT:Q14566 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:694 biolink:NamedThing orphanet.nt ARFL3 owl:Class REACT:P36405 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6953 biolink:NamedThing orphanet.nt MGC26544|TLX|TRA2.10 owl:Class REACT:P15529 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6954 biolink:NamedThing orphanet.nt BRCT-repeat inhibitor of TERT expression 1|BRIT1|FLJ12847 owl:Class REACT:Q8NEM0 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6971 biolink:NamedThing orphanet.nt owl:Class REACT:P40926 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6973 biolink:NamedThing orphanet.nt HDM2|MGC5370 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3136 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q00987 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:697 biolink:NamedThing orphanet.nt AIP1|ARMER|KIAA0069|SPG61 owl:Class REACT:Q15041 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6990 biolink:NamedThing orphanet.nt owl:Class REACT:P51608 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6993 biolink:NamedThing orphanet.nt RSRFC4|RSRFC9 owl:Class REACT:Q02078 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6996 biolink:NamedThing orphanet.nt owl:Class REACT:Q06413 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6998 biolink:NamedThing orphanet.nt FMF|marenostrin|TRIM20 owl:Class REACT:O15553 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7001 biolink:NamedThing orphanet.nt HsT18361|MRG1 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7010 biolink:NamedThing orphanet.nt menin owl:Class REACT:O00255 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7013 biolink:NamedThing orphanet.nt MOX1 owl:Class REACT:P50221 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7027 biolink:NamedThing orphanet.nt c-Eyk|mer|RP38|Tyro12 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1837 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q12866 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7029 biolink:NamedThing orphanet.nt DFNB97|hepatocyte growth factor receptor|HGFR|RCCP2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1815 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P08581 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7045 biolink:NamedThing orphanet.nt GNT-II owl:Class REACT:Q10469 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7059 biolink:NamedThing orphanet.nt methylated-DNA--protein-cysteine methyltransferase owl:Class REACT:P16455 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7060 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7067 biolink:NamedThing orphanet.nt C2TA|NLRA|NLR family, acid domain containing|nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1767 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P33076 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7096 biolink:NamedThing orphanet.nt FXY2|MRX101|RNF60|TRIM1 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7097 biolink:NamedThing orphanet.nt GIF|glycosylation-inhibiting factor|phenylpyruvate tautomerase owl:Class REACT:P14174 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7102 biolink:NamedThing orphanet.nt MIPP owl:Class REACT:Q9UNW1 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7103 biolink:NamedThing orphanet.nt AQP0|aquaporin 0|LIM1|MP26 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=687 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P30301 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7104 biolink:NamedThing orphanet.nt MIP owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7105 biolink:NamedThing orphanet.nt bHLHe32|homolog of mouse microphthalmia|MI owl:Class REACT:O75030 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7106 biolink:NamedThing orphanet.nt ATX3|JOS owl:Class REACT:P54252 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7108 biolink:NamedThing orphanet.nt owl:Class REACT:Q9NPJ1 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7114 biolink:NamedThing orphanet.nt MGC88288|RNF63|ZFP127|zinc finger protein 127 owl:Class REACT:Q13064 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7121 biolink:NamedThing orphanet.nt BBS13|FLJ20345|POC12|POC12 centriolar protein homolog (Chlamydomonas) owl:Class REACT:Q9NXB0 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7127 biolink:NamedThing orphanet.nt FCC2|HNPCC|HNPCC2 owl:Class REACT:P40692 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7128 biolink:NamedThing orphanet.nt owl:Class REACT:Q9UHC1 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7132 biolink:NamedThing orphanet.nt ALL-1|CXXC7|Histone-lysine N-methyltransferase 2A|HRX|HTRX1|MLL1A|TRX1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2688 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q03164 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7133 biolink:NamedThing orphanet.nt ALR|CAGL114|histone-lysine N-methyltransferase 2D|MLL4 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2691 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O14686 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7135 biolink:NamedThing orphanet.nt AF-4|AF4 owl:Class REACT:P51825 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7136 biolink:NamedThing orphanet.nt AF-9|AF9|YEATS3 owl:Class REACT:P42568 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:713 biolink:NamedThing orphanet.nt metachromatic leucodystrophy owl:Class REACT:P15289 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7146 biolink:NamedThing orphanet.nt CSNB1C|LTRPC1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=493 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q7Z4N2 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:714 biolink:NamedThing orphanet.nt owl:Class REACT:P15848 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7150 biolink:NamedThing orphanet.nt hMCD|MCD owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1275 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O95822 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7154 biolink:NamedThing orphanet.nt CALLA|CD10|enkephalinase|NEP|neprilysin|neutral endopeptidase owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1611 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P08473 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7155 biolink:NamedThing orphanet.nt interstitial collagenase owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1628 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P03956 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7159 biolink:NamedThing orphanet.nt CLG3|collagenase 3 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1637 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P45452 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7160 biolink:NamedThing orphanet.nt Membrane type 1 metalloprotease|MT1-MMP owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1638 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P50281 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7165 biolink:NamedThing orphanet.nt RASI-1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1642 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q99542 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7166 biolink:NamedThing orphanet.nt TBE-1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1629 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P08253 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7167 biolink:NamedThing orphanet.nt enamelysin owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1643 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O60882 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7171 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1645 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7176 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1633 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P14780 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7179 biolink:NamedThing orphanet.nt malonate-semialdehyde dehydrogenase (acetylating) owl:Class REACT:Q02252 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7180 biolink:NamedThing orphanet.nt MGCR1|MGCR1-PEN|probable tumor suppressor protein MN1 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7190 biolink:NamedThing orphanet.nt MOCOD owl:Class REACT:Q9NZB8 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7193 biolink:NamedThing orphanet.nt MOCO1|MOCS2A|MOCS2B|molybdopterin synthase catalytic subunit|molybdopterin synthase large subunit|molybdopterin synthase small subunit owl:Class REACT:O96033 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7197 biolink:NamedThing orphanet.nt BTN6|BTNL11 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:719 biolink:NamedThing orphanet.nt chondrodysplasia punctata 1 owl:Class REACT:P51690 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7207 biolink:NamedThing orphanet.nt CDGIf|Lec35|PQLC5|SL15|SLC66A5 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3164 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O75352 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7208 biolink:NamedThing orphanet.nt MUPP1 owl:Class REACT:O75970 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7216 biolink:NamedThing orphanet.nt mannose-6-phosphate isomerase owl:Class REACT:P34949 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7217 biolink:NamedThing orphanet.nt CD110|THPOR|TPOR owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1722 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P40238 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7218 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2789 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P05164 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7224 biolink:NamedThing orphanet.nt glomerulosclerosis|SYM1 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7225 biolink:NamedThing orphanet.nt CMT2I|CMT2J|HMSNIB owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7227 biolink:NamedThing orphanet.nt M-RAs|R-RAS3|RRAS3 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7230 biolink:NamedThing orphanet.nt ATLD|AT-like disease owl:Class REACT:P49959 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:728 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7315 biolink:NamedThing orphanet.nt B1|Bp35|MS4A2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2628 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P11836 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7323 biolink:NamedThing orphanet.nt AF17q25|KIAA0991|MSF1|Ov/Br septin|PNUTL4|SeptD1 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7325 biolink:NamedThing orphanet.nt DNA mismatch repair protein Msh2|HNPCC|HNPCC1 owl:Class REACT:P43246 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7326 biolink:NamedThing orphanet.nt Divergent upstream protein|DUP|Mismatch repair protein 1|MRP1 owl:Class REACT:P20585 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7328 biolink:NamedThing orphanet.nt G7 owl:Class REACT:O43196 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7329 biolink:NamedThing orphanet.nt owl:Class REACT:P52701 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:735 biolink:NamedThing orphanet.nt AC|ACDase|acid ceramidase|acylsphingosine deacylase|FLJ21558|PHP32 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2491 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q13510 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7372 biolink:NamedThing orphanet.nt beta-microseminoprotein|IGBF|MSP|MSPB|PN44|PRPS|PSP|PSP57|PSP-94|PSP94 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7373 biolink:NamedThing orphanet.nt owl:Class REACT:P26038 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7376 biolink:NamedThing orphanet.nt CD204|SCARA1|SR-A|SR-AI|SR-AII|SR-AIII owl:Class REACT:P21757 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7380 biolink:NamedThing orphanet.nt MSP|NF15S2 owl:Class REACT:P26927 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:738 biolink:NamedThing orphanet.nt ASH1|bHLHa46|HASH1 owl:Class REACT:P50553 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7391 biolink:NamedThing orphanet.nt HYD1|OFC5 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7392 biolink:NamedThing orphanet.nt craniosynostosis, type 2|CRS2|FPP|HOX8|MSH|PFM owl:Class REACT:P35548 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7413 biolink:NamedThing orphanet.nt c86fus|MSAP|S-methyl-5'-thioadenosine phosphorylase owl:Class REACT:Q13126 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7414 biolink:NamedThing orphanet.nt ATP6|ATPase-6|mitochondrially encoded ATP synthase membrane subunit a|Su6m owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=801 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P00846 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7415 biolink:NamedThing orphanet.nt A6L|ATP8|mitochondrially encoded ATP synthase membrane subunit A6L owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=809 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P03928 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7419 biolink:NamedThing orphanet.nt COI|COX1 owl:Class REACT:P00395 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7421 biolink:NamedThing orphanet.nt CO2|COX2 owl:Class REACT:P00403 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7422 biolink:NamedThing orphanet.nt CO3|COIII|COX3 owl:Class REACT:P00414 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7427 biolink:NamedThing orphanet.nt COB|CYTB|UQCR3 owl:Class REACT:P00156 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7432 biolink:NamedThing orphanet.nt owl:Class REACT:P11586 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7436 biolink:NamedThing orphanet.nt owl:Class REACT:P42898 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7448 biolink:NamedThing orphanet.nt owl:Class REACT:Q13496 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7450 biolink:NamedThing orphanet.nt KIAA1073|phosphatidylinositol-3-phosphatase|phosphoinositide-3-phosphatase owl:Class REACT:Q13614 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7455 biolink:NamedThing orphanet.nt complex I ND1 subunit|NAD1|NADH-ubiquinone oxidoreductase chain 1|ND1 owl:Class REACT:P03886 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7456 biolink:NamedThing orphanet.nt complex I ND2 subunit|NAD2|NADH-ubiquinone oxidoreductase chain 2|ND2 owl:Class REACT:P03891 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7458 biolink:NamedThing orphanet.nt complex I ND3 subunit|NAD3|NADH-ubiquinone oxidoreductase chain 3|ND3 owl:Class REACT:P03897 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7459 biolink:NamedThing orphanet.nt complex I ND4 subunit|NAD4|NADH-ubiquinone oxidoreductase chain 4|ND4 owl:Class REACT:P03905 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7460 biolink:NamedThing orphanet.nt complex I ND4L subunit|NAD4L|NADH-ubiquinone oxidoreductase chain 4L|ND4L owl:Class REACT:P03901 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7461 biolink:NamedThing orphanet.nt complex I ND5 subunit|NAD5|NADH-ubiquinone oxidoreductase chain 5|ND5 owl:Class REACT:P03915 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7462 biolink:NamedThing orphanet.nt complex I ND6 subunit|NAD6|NADH-ubiquinone oxidoreductase chain 6|ND6 owl:Class REACT:P03923 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7467 biolink:NamedThing orphanet.nt ABL owl:Class REACT:P55157 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7468 biolink:NamedThing orphanet.nt cblG|Methionine synthase owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3099 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q99707 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:746 biolink:NamedThing orphanet.nt owl:Class REACT:P04424 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7470 biolink:NamedThing orphanet.nt 12S|mitochondrial open-reading-frame of the twelve S rRNA type-c|MOTS-c owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7471 biolink:NamedThing orphanet.nt 16S|formyl-humanin|HN|humanin owl:Class REACT:Q8IVG9 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7473 biolink:NamedThing orphanet.nt cblE|Methionine synthase reductase owl:Class REACT:Q9UBK8 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7479 biolink:NamedThing orphanet.nt trnE owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7481 biolink:NamedThing orphanet.nt trnF owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7486 biolink:NamedThing orphanet.nt trnG owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7487 biolink:NamedThing orphanet.nt trnH owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7488 biolink:NamedThing orphanet.nt trnI owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7489 biolink:NamedThing orphanet.nt trnK owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7490 biolink:NamedThing orphanet.nt TRNL1 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7491 biolink:NamedThing orphanet.nt TRNL2 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7493 biolink:NamedThing orphanet.nt trnN owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7494 biolink:NamedThing orphanet.nt trnP owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7495 biolink:NamedThing orphanet.nt trnQ owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7497 biolink:NamedThing orphanet.nt TRNS1 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7498 biolink:NamedThing orphanet.nt RP8|TRNS2 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7499 biolink:NamedThing orphanet.nt trnT owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7500 biolink:NamedThing orphanet.nt trnV owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7501 biolink:NamedThing orphanet.nt trnW owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7506 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7508 biolink:NamedThing orphanet.nt ADMCKD|ADMCKD1|CD227|MCD|MCKD|PEM owl:Class REACT:P15941 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7516 biolink:NamedThing orphanet.nt MG1 owl:Class REACT:Q9HC84 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7523 biolink:NamedThing orphanet.nt KIAA0898|POB1|RING-B-box-coiled-coil protein|TEF3 owl:Class REACT:O94972 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7525 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1847 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O15146 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7526 biolink:NamedThing orphanet.nt MCM owl:Class REACT:P22033 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7527 biolink:NamedThing orphanet.nt MYH owl:Class REACT:Q9UIF7 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7529 biolink:NamedThing orphanet.nt diphosphomevalonate decarboxylase|mevalonate pyrophosphate decarboxylase|MPD owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=642 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P53602 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7530 biolink:NamedThing orphanet.nt LH receptor mRNA-binding protein|LRBP|mevalonic aciduria|MK owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=640 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q03426 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:753 biolink:NamedThing orphanet.nt owl:Class REACT:P08243 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7545 biolink:NamedThing orphanet.nt c-myb owl:Class REACT:P10242 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7549 biolink:NamedThing orphanet.nt owl:Class REACT:Q00872 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7551 biolink:NamedThing orphanet.nt FHC|MYBP-C owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2880 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q14896 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7553 biolink:NamedThing orphanet.nt bHLHe39|c-Myc|MYCC owl:Class REACT:P01106 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7559 biolink:NamedThing orphanet.nt bHLHe37|MYCNOT|N-myc owl:Class REACT:P04198 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7562 biolink:NamedThing orphanet.nt owl:Class REACT:Q99836 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7566 biolink:NamedThing orphanet.nt bHLHc4|herculin|MRF4|muscle-specific regulatory factor 4 owl:Class REACT:P23409 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7569 biolink:NamedThing orphanet.nt SMHC|SMMHC owl:Class REACT:P35749 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:756 biolink:NamedThing orphanet.nt ACY2|aminoacylase 2|ASP|Canavan disease owl:Class REACT:P45381 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7572 biolink:NamedThing orphanet.nt MYH2A|MYHas8|MyHC-2A|MyHC-IIa|MYHSA2 owl:Class REACT:Q9UKX2 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7573 biolink:NamedThing orphanet.nt HEMHC|muscle embryonic myosin heavy chain 3|MYHC-EMB|MYHSE1|myosin, skeletal, heavy chain, embryonic 1|SMHCE owl:Class REACT:P11055 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7576 biolink:NamedThing orphanet.nt cardiomyopathy, hypertrophic 1 owl:Class REACT:P13533 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7577 biolink:NamedThing orphanet.nt CMD1S owl:Class REACT:P12883 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7578 biolink:NamedThing orphanet.nt MyHC-peri|MyHC-pn owl:Class REACT:P13535 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7579 biolink:NamedThing orphanet.nt EPSTS|FTNS|MHA|NMHC-II-A|NMMHCA|nonmuscle myosin heavy chain II-A owl:Class REACT:P35579 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:757 biolink:NamedThing orphanet.nt BAH|CASQ2BP1|HAAH|humbug|JCTN|junctate|junctin owl:Class REACT:Q12797 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7582 biolink:NamedThing orphanet.nt owl:Class REACT:P05976 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7583 biolink:NamedThing orphanet.nt cardiac ventricular myosin light chain 2|CMH10 owl:Class REACT:P10916 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7584 biolink:NamedThing orphanet.nt CMH8|MLC1SB|MLC1V|VLC1 owl:Class REACT:P08590 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7585 biolink:NamedThing orphanet.nt ALC1|AMLC|GT1|myosin, atrial/fetal muscle, light chain|PRO1957 owl:Class REACT:P12829 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:758 biolink:NamedThing orphanet.nt CTLN1 owl:Class REACT:P00966 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7590 biolink:NamedThing orphanet.nt MLCK|MLCK1|MYLK1|smMLCK|smooth muscle myosin light chain kinase owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1552 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q15746 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7594 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7595 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7597 biolink:NamedThing orphanet.nt myr2 owl:Class REACT:O00159 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7599 biolink:NamedThing orphanet.nt HuncM-IC|MGC104638|MYO1C|myosin-IC owl:Class REACT:Q12965 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7601 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2112 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7602 biolink:NamedThing orphanet.nt GS1|MYO5|myosin heavy chain 12|myosin, heavy polypeptide kinase|myosin V|myoxin|MYR12 owl:Class REACT:Q9Y4I1 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7603 biolink:NamedThing orphanet.nt KIAA1119 owl:Class REACT:Q9ULV0 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7605 biolink:NamedThing orphanet.nt KIAA0389 owl:Class REACT:Q9UM54 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7606 biolink:NamedThing orphanet.nt NSRD2 owl:Class REACT:Q13402 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7608 biolink:NamedThing orphanet.nt FLJ11061|FLJ13244|MGC71859 owl:Class REACT:B2RTY4 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7610 biolink:NamedThing orphanet.nt JOAG1|juvenile-onset open-angle glaucoma 1|TIGR|trabecular meshwork inducible glucocorticoid response protein owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7611 biolink:NamedThing orphanet.nt bHLHc1|myoblast determination protein 1|MYOD|PUM owl:Class REACT:P15172 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7623 biolink:NamedThing orphanet.nt KIAA1106|neural zinc finger transcription factor 1|NZF1|ZC2H2C2|ZC2HC4B owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7627 biolink:NamedThing orphanet.nt EGR1 binding protein 2|MADER owl:Class REACT:Q15742 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7631 biolink:NamedThing orphanet.nt alpha-galactosidase B|D22S674 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7632 biolink:NamedThing orphanet.nt NAG|Sanfilippo disease IIIB owl:Class REACT:P54802 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7634 biolink:NamedThing orphanet.nt NLRB1|NLR family, BIR domain containing 1|nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2793 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7652 biolink:NamedThing orphanet.nt ATV|AT-V1|AT-V2 owl:Class REACT:O60934 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7660 biolink:NamedThing orphanet.nt chronic granulomatous disease, autosomal 1|NADPH oxidase organizer 2|NCF1A|NOXO2|p47phox|SH3PXD1A owl:Class REACT:P14598 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7661 biolink:NamedThing orphanet.nt chronic granulomatous disease, autosomal 2|NADPH oxidase activator 2|NOXA2|p67phox owl:Class REACT:P19878 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7662 biolink:NamedThing orphanet.nt neutrophil NADPH oxidase factor 4|p40phox|SH3PXD4 owl:Class REACT:Q15080 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7671 biolink:NamedThing orphanet.nt ARA70|DKFZp762E1112|ELE1|PTC3|RET-activating gene ELE1|RFG owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7675 biolink:NamedThing orphanet.nt HsT16328|Prader-Willi syndrome chromosome region|PWCR owl:Class REACT:Q99608 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7678 biolink:NamedThing orphanet.nt norrin owl:Class REACT:Q00604 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7679 biolink:NamedThing orphanet.nt DRG1|NDR1|RTP|TDD5 owl:Class REACT:Q92597 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7680 biolink:NamedThing orphanet.nt [Heparan sulfate]-glucosamine N-sulfotransferase 1|heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase 1|N-Deacetylase-N-sulfotransferase 1|NST1 owl:Class REACT:P52848 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7683 biolink:NamedThing orphanet.nt CI-MWFE|complex I MWFE subunit|MWFE|NADH:ubiquinone oxidoreductase (complex 1)|type I dehydrogenase owl:Class REACT:O15239 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7684 biolink:NamedThing orphanet.nt CI-42k|complex I 42kDa subunit owl:Class REACT:O95299 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7685 biolink:NamedThing orphanet.nt B8|complex I B8 subunit owl:Class REACT:O43678 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7687 biolink:NamedThing orphanet.nt CI-9k|complex I 9kDa subunit|COXFA4|cytochrome c oxidase subunit FA4|MLRQ|NADH-ubiquinone oxidoreductase MLRQ subunit owl:Class REACT:O00483 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7690 biolink:NamedThing orphanet.nt B14|CI-B14|complex I B14 subunit|LYRM6|NADHB14 owl:Class REACT:P56556 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7693 biolink:NamedThing orphanet.nt CI-39k|Complex I 39kDa subunit|COQ11|SDR22E1|Short chain dehydrogenase/reductase family 22E, member 1 owl:Class REACT:Q16795 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7696 biolink:NamedThing orphanet.nt complex I PDSW subunit|PDSW owl:Class REACT:O96000 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7698 biolink:NamedThing orphanet.nt B12|Complex I B12 subunit owl:Class REACT:O43676 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:76 biolink:NamedThing orphanet.nt c-ABL|JTK7|p150 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1923 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P00519 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7703 biolink:NamedThing orphanet.nt ASHI|CI-ASHI|complex I ASHI subunit owl:Class REACT:O95169 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7704 biolink:NamedThing orphanet.nt B22|Complex I B22 subunit|LYRM3|UQOR22 owl:Class REACT:Q9Y6M9 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7707 biolink:NamedThing orphanet.nt CI-75k|complex I 75kDa subunit|NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial owl:Class REACT:P28331 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7708 biolink:NamedThing orphanet.nt CI-49|complex I 49kDa subunit|NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial owl:Class REACT:O75306 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7710 biolink:NamedThing orphanet.nt CI-30|complex I 30kDa subunit|NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial owl:Class REACT:O75489 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7711 biolink:NamedThing orphanet.nt AQDQ|CI-18|complex I 18kDa subunit owl:Class REACT:O43181 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7713 biolink:NamedThing orphanet.nt CI-13kA|complex I 13kDa subunit A|NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial owl:Class REACT:O75380 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7714 biolink:NamedThing orphanet.nt CI-20|complex I 20kDa subunit|FLJ45860|FLJ46880|NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial|PSST owl:Class REACT:O75251 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7715 biolink:NamedThing orphanet.nt CI-23k|complex I 23kDa subunit|NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial|TYKY owl:Class REACT:O00217 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7716 biolink:NamedThing orphanet.nt CI-51K|complex I 51kDa subunit|NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial owl:Class REACT:P49821 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7717 biolink:NamedThing orphanet.nt CI-24k|complex I 24kDa subunit|NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial owl:Class REACT:P19404 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7720 biolink:NamedThing orphanet.nt NEB177D|nemaline myopathy type 2 owl:Class REACT:P20929 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7728 biolink:NamedThing orphanet.nt KIAA0439|NEDD4-2|RSP5 owl:Class REACT:Q96PU5 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7737 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7739 biolink:NamedThing orphanet.nt CMT1F|CMT2E|NF68|NFL|PPP1R110|protein phosphatase 1, regulatory subunit 110 owl:Class REACT:P07196 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7744 biolink:NamedThing orphanet.nt KIAA1901|NY-REN-55 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2114 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q96PY6 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7745 biolink:NamedThing orphanet.nt HsPK 21|NEK2A|NLK1|PPP1R111|protein phosphatase 1, regulatory subunit 111|RP67 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2117 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P51955 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7758 biolink:NamedThing orphanet.nt owl:Class REACT:Q99519 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:775 biolink:NamedThing orphanet.nt antithrombin (aa 375-432)|antithrombin III|ATIII|coding sequence signal peptide antithrombin part 1|MGC22579|signal peptide antithrombin part 1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2632 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P01008 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7762 biolink:NamedThing orphanet.nt BETA2|beta-cell E-box transactivator 2|BHF-1|bHLHa3|MODY6|NeuroD|neurogenic helix-loop-helix protein NEUROD owl:Class REACT:Q13562 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7763 biolink:NamedThing orphanet.nt bHLHa1|NDRF owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7765 biolink:NamedThing orphanet.nt neurofibromatosis|von Recklinghausen disease|Watson disease owl:Class REACT:P21359 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7773 biolink:NamedThing orphanet.nt ACN|BANF|Merlin|moesin-ezrin-radixin like|SCH|schwannomin owl:Class REACT:P35240 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7774 biolink:NamedThing orphanet.nt KIAA0827|NF-AT5|NFATL1|NFATZ|OREBP|TONEBP|tonicity-responsive enhancer binding protein owl:Class REACT:O94916 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7784 biolink:NamedThing orphanet.nt KIAA1439|NFI-L owl:Class REACT:Q12857 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7788 biolink:NamedThing orphanet.nt CCAAT-binding transcription factor|NF1A owl:Class REACT:Q14938 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7794 biolink:NamedThing orphanet.nt KBF1|NF-kappaB|NFkappaB|NF-kB1|NFKB-p50|Nuclear factor NF-kappa-B p105 subunit|p105|p50 owl:Class REACT:P19838 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7795 biolink:NamedThing orphanet.nt LYT-10|NF-kB2|p105|p49/p100|p52 owl:Class REACT:Q00653 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7797 biolink:NamedThing orphanet.nt IkappaBalpha|IKBA|MAD-3|NF-kappa-B inhibitor alpha owl:Class REACT:P25963 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:779 biolink:NamedThing orphanet.nt BNIP-H|Cayman ataxia|caytaxin owl:Class REACT:Q86WG3 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7801 biolink:NamedThing orphanet.nt IKBR owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7808 biolink:NamedThing orphanet.nt owl:Class REACT:P01138 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7820 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7821 biolink:NamedThing orphanet.nt entactin owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:783 biolink:NamedThing orphanet.nt TREB36 owl:Class REACT:P18846 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7863 biolink:NamedThing orphanet.nt owl:Class REACT:Q13423 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7865 biolink:NamedThing orphanet.nt owl:Class REACT:Q96S42 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7866 biolink:NamedThing orphanet.nt owl:Class REACT:Q13253 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7869 biolink:NamedThing orphanet.nt ARC|CARD2|MYP|NOP30 owl:Class REACT:O60936 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7871 biolink:NamedThing orphanet.nt NMT55|non-Pou domain-containing octamer (ATGCAAAT) binding protein|NRB54|Nuclear RNA-binding protein, 54-kD|P54|P54NRB|PPP1R114|protein phosphatase 1, regulatory subunit 114 owl:Class REACT:Q15233 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7872 biolink:NamedThing orphanet.nt nNOS owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1251 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P29475 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7877 biolink:NamedThing orphanet.nt AD-005|CDC39|KIAA1007|NOT1H owl:Class REACT:A5YKK6 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7878 biolink:NamedThing orphanet.nt CDC36|NOT2H owl:Class REACT:Q9NZN8 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7879 biolink:NamedThing orphanet.nt KIAA0691|LENG2|NOT3H|NOT3 (negative regulator of transcription 3, yeast) homolog owl:Class REACT:O75175 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7881 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2861 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P46531 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7882 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2859 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q04721 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7883 biolink:NamedThing orphanet.nt CASIL owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2860 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q9UM47 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7892 biolink:NamedThing orphanet.nt PUNP owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2841 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P00491 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7897 biolink:NamedThing orphanet.nt SLC65A1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3051 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O15118 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7898 biolink:NamedThing orphanet.nt SLC65A2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2629 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q9UHC9 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7905 biolink:NamedThing orphanet.nt JBTS4|SLSN1 owl:Class REACT:O15259 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7907 biolink:NamedThing orphanet.nt CFAP31|cilia and flagella associated protein 31|FLJ30691|FLJ36696|KIAA2000|Meckel syndrome, type 7|MKS7|NPH3|SLSN3 owl:Class REACT:Q7Z494 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7908 biolink:NamedThing orphanet.nt CNF|NPHN owl:Class REACT:O60500 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7910 biolink:NamedThing orphanet.nt B23|NPM|nucleolar phosphoprotein B23|Nucleophosmin/nucleoplasmin family, member 1|Numatrin owl:Class REACT:P06748 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:791 biolink:NamedThing orphanet.nt activating transcription factor 6 alpha|ATF6A owl:Class REACT:P18850 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7939 biolink:NamedThing orphanet.nt owl:Class REACT:P01160 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7944 biolink:NamedThing orphanet.nt ANPb|guanylate cyclase 2B|GUCY2B owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1748 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P20594 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:794 biolink:NamedThing orphanet.nt AICARFT|IMPCHASE|phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase|PURH owl:Class REACT:P31939 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:795 biolink:NamedThing orphanet.nt TEL1|TEL1, telomere maintenance 1, homolog (S. cerevisiae)|TELO1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1934 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q13315 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7960 biolink:NamedThing orphanet.nt AHCH|DAX1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=635 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P51843 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7967 biolink:NamedThing orphanet.nt bile acid receptor|farnesoid X receptor|FXR|HRR-1|HRR1|RIP14 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=603 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q96RI1 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7974 biolink:NamedThing orphanet.nt PNR|rd7|RP37 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=616 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q9Y5X4 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7975 biolink:NamedThing orphanet.nt COUPTF1|COUP-TFI|EAR-3|SVP44|TCFCOUP1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=617 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P10589 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7976 biolink:NamedThing orphanet.nt COUPTF2|COUPTFB|COUP-TFII|NF-E3|SVP40 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=618 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P24468 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7978 biolink:NamedThing orphanet.nt glucocorticoid receptor|GR owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=625 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P04150 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7979 biolink:NamedThing orphanet.nt MR owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=626 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P08235 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7982 biolink:NamedThing orphanet.nt CHN|CSMF|MINOR|NOR1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=631 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q92570 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7983 biolink:NamedThing orphanet.nt AD4BP|ELP|FTZ1|hSF-1|SF-1|SF1|steroidogenic factor 1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=632 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q13285 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7989 biolink:NamedThing orphanet.nt N-ras owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2823 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P01111 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:799 biolink:NamedThing orphanet.nt sodium-potassium ATPase catalytic subunit alpha-1|sodium/potassium-transporting ATPase subunit alpha-1|sodium pump subunit alpha-1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=833 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P05023 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8002 biolink:NamedThing orphanet.nt D14S46E|NRL-MAF|RP27 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8007 biolink:NamedThing orphanet.nt NTN|prepro-neurturin owl:Class REACT:Q99748 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8008 biolink:NamedThing orphanet.nt Hs.22998|KIAA0578 owl:Class REACT:Q9ULB1 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:800 biolink:NamedThing orphanet.nt FHM2|sodium-potassium ATPase catalytic subunit alpha-2|sodium/potassium-transporting ATPase subunit alpha-2|sodium pump subunit alpha-2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=834 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P50993 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8011 biolink:NamedThing orphanet.nt Caspr|CNTNAP|neurexin 4|p190 owl:Class REACT:P78357 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:801 biolink:NamedThing orphanet.nt sodium-potassium ATPase catalytic subunit alpha-3|sodium/potassium-transporting ATPase subunit alpha-3|sodium pump subunit alpha-3 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=835 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P13637 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8021 biolink:NamedThing orphanet.nt CALJA|CD73|eN|eNT owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1232 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P21589 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8022 biolink:NamedThing orphanet.nt cN-II|GMP|PNT5|purine 5' nucleotidase|SPG65 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1236 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P49902 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8024 biolink:NamedThing orphanet.nt GLC1O|Neurotrophic factor 4|NT-4/5 owl:Class REACT:P34130 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8028 biolink:NamedThing orphanet.nt NTH1|OCTS3 owl:Class REACT:P78549 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8029 biolink:NamedThing orphanet.nt Netrin-1|NTN1L owl:Class REACT:O95631 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8031 biolink:NamedThing orphanet.nt high affinity nerve growth factor receptor|MTC|TRK|TRKA owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1817 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P04629 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8032 biolink:NamedThing orphanet.nt BDNF/NT-3 growth factors receptor|TRKB owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1818 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q16620 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8033 biolink:NamedThing orphanet.nt TRKC owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1819 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q16288 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8059 biolink:NamedThing orphanet.nt owl:Class REACT:Q14980 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8063 biolink:NamedThing orphanet.nt KIAA0791|N155 owl:Class REACT:O75694 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8064 biolink:NamedThing orphanet.nt CAIN|CAN|CAN protein, putative oncogene|D9S46E|N214|nuclear pore complex protein Nup214 owl:Class REACT:P35658 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8066 biolink:NamedThing orphanet.nt DKFZp547L134|FLJ20822|FLJ43869|IBSN|MGC841|nuclear pore glycoprotein p62|p62|SNDI owl:Class REACT:P37198 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8067 biolink:NamedThing orphanet.nt MGC8530 owl:Class REACT:Q99567 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8079 biolink:NamedThing orphanet.nt FLJ43346 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8082 biolink:NamedThing orphanet.nt CLRP|CSNB1A owl:Class REACT:Q9GZU5 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8086 biolink:NamedThing orphanet.nt IFI-4|OIASI owl:Class REACT:P00973 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8091 biolink:NamedThing orphanet.nt gyrate atrophy|HOGA|Ornithine aminotransferase|ornithine aminotransferase precursor owl:Class REACT:P04181 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8101 biolink:NamedThing orphanet.nt BEY|BEY1|BEY2|EYCL|melanocyte-specific transporter protein|P-protein owl:Class REACT:Q04671 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8104 biolink:NamedThing orphanet.nt phosphatase 1, regulatory subunit 115|PPP1R115|tight junction protein occludin TM4 minus owl:Class REACT:Q16625 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8108 biolink:NamedThing orphanet.nt OCRL1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1460 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q01968 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8109 biolink:NamedThing orphanet.nt ODC owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1276 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P11926 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8117 biolink:NamedThing orphanet.nt TEN-M1 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:811 biolink:NamedThing orphanet.nt calcium pump 1|sarcoplasmic/endoplasmic reticulum calcium ATPase 1|SERCA1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=840 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O14983 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8124 biolink:NamedThing orphanet.nt E1k owl:Class REACT:Q02218 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8125 biolink:NamedThing orphanet.nt 8-hydroxyguanine DNA glycosylase|HMMH|HOGG1|MUTM|OGG1 type 1d|OGG1 type 1e|OGG1 type 1g|OGG1 type 1h|OGH1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3060 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:R-HSA-60887 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:812 biolink:NamedThing orphanet.nt calcium pump 2|sarcoplasmic/endoplasmic reticulum calcium ATPase 2|SERCA2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=841 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P16615 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8140 biolink:NamedThing orphanet.nt Dynamin-like 120 kDa protein, mitochondrial|dynamin-like guanosine triphosphatase|FLJ12460|KIAA0567|MGM1|mitochondrial dynamin-like GTPase|NPG|NTG owl:Class REACT:O60313 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8141 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8142 biolink:NamedThing orphanet.nt FLJ22187|MGA3 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8148 biolink:NamedThing orphanet.nt ARHGAP41|OPN1 owl:Class REACT:O60890 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8149 biolink:NamedThing orphanet.nt 5-Opase|OPLA owl:Class REACT:O14841 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8157 biolink:NamedThing orphanet.nt SR-BP1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2552 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:815 biolink:NamedThing orphanet.nt plasma membrane Ca2+ pump 2|plasma membrane calcium-transporting ATPase 2|PMCA2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=844 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q01814 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:816 biolink:NamedThing orphanet.nt CFAP39|cilia and flagella associated protein 39|Plasma membrane calcium-transporting ATPase 3|PMCA3 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=845 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q16720 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:819 biolink:NamedThing orphanet.nt ATP6A|gastric H,K-ATPase alpha subunit|H(+)-K(+)-ATPase alpha subunit|proton pump owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=849 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P20648 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:823 biolink:NamedThing orphanet.nt ATP5A|hATP1|OMR|ORM owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=796 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P25705 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:837 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=799 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:838 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=800 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P56381 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8487 biolink:NamedThing orphanet.nt HSORC1|origin recognition complex 1|origin recognition complex, subunit 1, S. cerevisiae, homolog-like|PARC1|replication control protein 1 owl:Class REACT:Q13415 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8490 biolink:NamedThing orphanet.nt HsORC4|Orc4p owl:Class REACT:O43929 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8507 biolink:NamedThing orphanet.nt Oncostatin-M-specific receptor subunit beta|OSMRB owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1714 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q99650 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8512 biolink:NamedThing orphanet.nt owl:Class REACT:P00480 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8515 biolink:NamedThing orphanet.nt DFNB6|FER1L2|fer-1-like family member 2 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8516 biolink:NamedThing orphanet.nt FLJ46346|mlemp|OTGN owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:851 biolink:NamedThing orphanet.nt VA68|Vma1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=810 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P38606 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8522 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8527 biolink:NamedThing orphanet.nt SCOT|Succinyl-CoA:3-ketoacid-CoA transferase owl:Class REACT:P55809 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8537 biolink:NamedThing orphanet.nt MGC20089|P2X7 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=484 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q99572 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:853 biolink:NamedThing orphanet.nt Renal tubular acidosis with deafness|RTA1B|VATB|Vma2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=811 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P15313 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8540 biolink:NamedThing orphanet.nt P2Y11 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=327 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q96G91 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8547 biolink:NamedThing orphanet.nt C-P4Halpha(II) owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8548 biolink:NamedThing orphanet.nt collagen prolyl 4-hydroxylase beta|DSI|GIT|P4Hbeta|PDI|PDIA1|PO4HB|PROHB|protein disulfide isomerase-associated 1|protein disulfide isomerase family A, member 1 owl:Class REACT:P07237 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8549 biolink:NamedThing orphanet.nt HPS9 owl:Class REACT:Q9UL45 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:854 biolink:NamedThing orphanet.nt HO57|VATB|Vma2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=812 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P21281 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8565 biolink:NamedThing orphanet.nt PAB2 owl:Class REACT:Q86U42 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8574 biolink:NamedThing orphanet.nt LIS1|lissencephaly-1|NudF|PAFAH owl:Class REACT:P43034 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:857 biolink:NamedThing orphanet.nt ATP6E2|P31|Vma4 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=816 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:R-HSA-912606 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8582 biolink:NamedThing orphanet.nt PH|phenylalanine 4-monooxygenase owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1240 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P00439 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8583 biolink:NamedThing orphanet.nt PAI|plasminogen activator inhibitor, type I owl:Class REACT:P05121 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8592 biolink:NamedThing orphanet.nt bPAK|hPAK3 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2135 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O75914 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8604 biolink:NamedThing orphanet.nt adenosine 5'-phosphosulfate kinase|adenylyl-sulfate kinase|ATPSK2|bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2|sulfate adenylyltransferase owl:Class REACT:O95340 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8607 biolink:NamedThing orphanet.nt AR-JP|E3 ubiquitin ligase|PARK2|parkin|PDJ owl:Class REACT:O60260 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8609 biolink:NamedThing orphanet.nt DAN|deadenylation nuclease owl:Class REACT:O95453 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8615 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8616 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8617 biolink:NamedThing orphanet.nt HUP2 owl:Class REACT:P23760 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8618 biolink:NamedThing orphanet.nt MODY9 owl:Class REACT:O43316 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8619 biolink:NamedThing orphanet.nt B-cell lineage specific activator|BSAP owl:Class REACT:Q02548 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8620 biolink:NamedThing orphanet.nt AN|aniridia, keratitis|D11S812E|WAGR owl:Class REACT:P26367 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8621 biolink:NamedThing orphanet.nt Hup1 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8622 biolink:NamedThing orphanet.nt owl:Class REACT:Q06710 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8623 biolink:NamedThing orphanet.nt owl:Class REACT:P55771 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8632 biolink:NamedThing orphanet.nt owl:Class REACT:P40424 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8636 biolink:NamedThing orphanet.nt PCB owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1262 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P11498 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8646 biolink:NamedThing orphanet.nt dimerizing cofactor for HNF1|PCD|Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic nuclear factor 1-alpha)|pterin-4-alpha carbinolamine dehydratase owl:Class REACT:P61457 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8653 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1266 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P05165 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8654 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1267 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P05166 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8657 biolink:NamedThing orphanet.nt VE-cadherin-2 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:866 biolink:NamedThing orphanet.nt a4|RDRTA2|RTADR|Stv1|Vph1|VPP2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=826 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q9HBG4 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:869 biolink:NamedThing orphanet.nt copper pump 1|copper-transporting ATPase 1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=852 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q04656 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:870 biolink:NamedThing orphanet.nt copper pump 2|copper-transporting ATPase 2|Wilson disease owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=853 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P35670 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8724 biolink:NamedThing orphanet.nt PEPCK-C owl:Class REACT:P35558 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8725 biolink:NamedThing orphanet.nt PEPCK|PEPCK2 owl:Class REACT:Q16822 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8727 biolink:NamedThing orphanet.nt PTC4 owl:Class REACT:Q15154 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8729 biolink:NamedThing orphanet.nt owl:Class REACT:P12004 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8734 biolink:NamedThing orphanet.nt FLJ12549|NUP75 owl:Class REACT:Q9BW27 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8740 biolink:NamedThing orphanet.nt CHMP1|KIAA0047|Vps46A owl:Class REACT:Q9HD42 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8743 biolink:NamedThing orphanet.nt neuroendocrine convertase 1|PC1|PC3|prohormone convertase 1|prohormone convertase 3|proprotein convertase 1|SPC3 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2382 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P29120 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8754 biolink:NamedThing orphanet.nt CT|CTPCT owl:Class REACT:P49585 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8760 biolink:NamedThing orphanet.nt CD279|hSLE1|PD-1|PD1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2760 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q15116 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8761 biolink:NamedThing orphanet.nt TFAR15 owl:Class REACT:Q9BUL8 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8768 biolink:NamedThing orphanet.nt AIF|CMTX4 owl:Class REACT:O95831 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8772 biolink:NamedThing orphanet.nt cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1310 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q9Y233 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8773 biolink:NamedThing orphanet.nt Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1311 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q9HCR9 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8776 biolink:NamedThing orphanet.nt Hcam3 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1296 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q14123 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8777 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1297 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8778 biolink:NamedThing orphanet.nt CGI-PDE|cGMP-inhibited 3',5'-cyclic phosphodiesterase A owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1298 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q14432 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:877 biolink:NamedThing orphanet.nt 26g turgor protein homolog|alpha-AASA dehydrogenase|alpha-aminoadipic semialdehyde dehydrogenase|antiquitin 1|delta1-piperideine-6-carboxylate dehydrogenease|EPD|P6c dehydrogenase|PDE owl:Class REACT:P49419 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8783 biolink:NamedThing orphanet.nt cAMP-specific 3',5'-cyclic phosphodiesterase 4D|Phosphodiesterase E3 dunce homolog (Drosophila) owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1303 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q08499 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8785 biolink:NamedThing orphanet.nt Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha|RP43 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1312 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P16499 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8786 biolink:NamedThing orphanet.nt congenital stationary night blindness 3, autosomal dominant|CSNB3|CSNBAD2|rd1|rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta|RP40 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1313 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P35913 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8787 biolink:NamedThing orphanet.nt ACHM5|COD4|Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha|PDEA2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1314 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8788 biolink:NamedThing orphanet.nt JBTS22|retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1315 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O43924 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8789 biolink:NamedThing orphanet.nt RP57 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1316 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P18545 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8790 biolink:NamedThing orphanet.nt retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1317 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8794 biolink:NamedThing orphanet.nt High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1308 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O95263 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:87 biolink:NamedThing orphanet.nt isobutyryl-CoA dehydrogenase owl:Class REACT:Q9UKU7 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8800 biolink:NamedThing orphanet.nt becaplermin|oncogene SIS|SSV owl:Class REACT:P01127 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8803 biolink:NamedThing orphanet.nt CD140a|GAS9|PDGFR2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1803 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P16234 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8804 biolink:NamedThing orphanet.nt CD140b|JTK12|PDGFR1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1804 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P09619 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8805 biolink:NamedThing orphanet.nt PRLTS owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8806 biolink:NamedThing orphanet.nt pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial owl:Class REACT:P08559 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8808 biolink:NamedThing orphanet.nt PDHE1B owl:Class REACT:P11177 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8811 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2143 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q15120 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8818 biolink:NamedThing orphanet.nt PDS|pendrin owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1100 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O43511 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8820 biolink:NamedThing orphanet.nt ADCA|beta-neoendorphin|dynorphin|leu-enkephalin|leumorphin|neoendorphin-dynorphin-enkephalin prepropeptide|PENKB|preproenkephalin B|rimorphin owl:Class REACT:P01213 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8824 biolink:NamedThing orphanet.nt alpha-2 antiplasmin|EPC-1|PIG35|pigment epithelium-derived factor|proliferation-inducing protein 35 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:882 biolink:NamedThing orphanet.nt FRP1|MEC1|MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)|SCKL|SCKL1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1935 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q13535 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8840 biolink:NamedThing orphanet.nt prolidase|Xaa-Pro dipeptidase owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2389 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8846 biolink:NamedThing orphanet.nt KIAA0347 owl:Class REACT:O15055 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8847 biolink:NamedThing orphanet.nt owl:Class REACT:P56645 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8850 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8851 biolink:NamedThing orphanet.nt RNF69 owl:Class REACT:O60683 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8853 biolink:NamedThing orphanet.nt owl:Class REACT:O96011 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8854 biolink:NamedThing orphanet.nt owl:Class REACT:O00623 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8855 biolink:NamedThing orphanet.nt owl:Class REACT:Q92968 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8856 biolink:NamedThing orphanet.nt owl:Class REACT:O75381 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8857 biolink:NamedThing orphanet.nt owl:Class REACT:Q9Y5Y5 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8858 biolink:NamedThing orphanet.nt owl:Class REACT:P56589 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8859 biolink:NamedThing orphanet.nt PAF-2|PXAAA1 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8860 biolink:NamedThing orphanet.nt PTS2R|RD|Refsum disease owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8864 biolink:NamedThing orphanet.nt owl:Class REACT:P27918 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:886 biolink:NamedThing orphanet.nt RAD54 homolog (S. cerevisiae)|XH2|XNP owl:Class REACT:P46100 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8877 biolink:NamedThing orphanet.nt PFK-1|PPP1R122|protein phosphatase 1, regulatory subunit 122 owl:Class REACT:P08237 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8881 biolink:NamedThing orphanet.nt owl:Class REACT:P07737 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8889 biolink:NamedThing orphanet.nt PGAM-M owl:Class REACT:P15259 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:888 biolink:NamedThing orphanet.nt UNC104 owl:Class REACT:Q12756 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8896 biolink:NamedThing orphanet.nt owl:Class REACT:P00558 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8905 biolink:NamedThing orphanet.nt owl:Class REACT:P36871 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8907 biolink:NamedThing orphanet.nt acetylglucosamine phosphomutase|AGM1|DKFZP434B187|PAGM|phosphoacetylglucosamine mutase owl:Class REACT:O95394 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:890 biolink:NamedThing orphanet.nt owl:Class REACT:Q13825 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8918 biolink:NamedThing orphanet.nt HPDR1|HYP1|PEX|XLH owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8923 biolink:NamedThing orphanet.nt D-3-phosphoglycerate dehydrogenase|PDG|PGDH|SERA owl:Class REACT:O43175 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8925 biolink:NamedThing orphanet.nt owl:Class REACT:P46020 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8926 biolink:NamedThing orphanet.nt owl:Class REACT:P46019 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8927 biolink:NamedThing orphanet.nt owl:Class REACT:Q93100 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8930 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2145 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q16816 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8931 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2147 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P15735 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8940 biolink:NamedThing orphanet.nt PAHX|PHYH1|phytanoyl-CoA dioxygenase|RD|Refsum disease owl:Class REACT:O14832 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8941 biolink:NamedThing orphanet.nt A1A|A1AT|AAT|alpha-1-antitrypsin|alpha1AT|PI1|protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin owl:Class REACT:P01009 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8943 biolink:NamedThing orphanet.nt neuroserpin owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:894 biolink:NamedThing orphanet.nt ADH|antidiuretic hormone|copeptin|diabetes insipidus|neurohypophyseal|neurophysin II|prepro-arginine-vasopressin-neurophysin II|prepro-AVP-NP II owl:Class REACT:P01185 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8950 biolink:NamedThing orphanet.nt CAP|cytoplasmic antiproteinase|PTI owl:Class REACT:P35237 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8952 biolink:NamedThing orphanet.nt CAP2|cytoplasmic antiproteinase 2 owl:Class REACT:P50452 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8957 biolink:NamedThing orphanet.nt GPI3|paroxysmal nocturnal hemoglobinuria|phosphatidylinositol N-acetylglucosaminyltransferase owl:Class REACT:P37287 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8960 biolink:NamedThing orphanet.nt phosphatidylinositol N-acetylglucosaminyltransferase owl:Class REACT:Q92535 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8966 biolink:NamedThing orphanet.nt N-acetylglucosaminylphosphatidylinositol deacetylase owl:Class REACT:Q9Y2B2 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8967 biolink:NamedThing orphanet.nt MCD4|MDC4|PIG-N owl:Class REACT:O95427 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8971 biolink:NamedThing orphanet.nt PI3K-C2alpha owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2150 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8975 biolink:NamedThing orphanet.nt PI3K owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2153 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P42336 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8977 biolink:NamedThing orphanet.nt p110D|phosphatidylinositol 3-kinase, catalytic, delta polypeptide|phosphoinositide-3-kinase C owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2155 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O00329 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8979 biolink:NamedThing orphanet.nt GRB1|p85|p85-ALPHA|phosphoinositide-3-kinase regulatory subunit alpha owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2503 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P27986 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:897 biolink:NamedThing orphanet.nt nephrogenic diabetes insipidus|V2R owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=368 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P30518 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8980 biolink:NamedThing orphanet.nt p85|P85B|phosphoinositide-3-kinase regulatory subunit beta owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2504 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O00459 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8983 biolink:NamedThing orphanet.nt phosphatidylinositol 4-kinase III alpha|pi4K230|PI4K-ALPHA owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2148 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P42356 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8996 biolink:NamedThing orphanet.nt KIAA0589|LCCS3|PIP5Kgamma owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2165 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O60331 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8997 biolink:NamedThing orphanet.nt PIP5KIIA|PIP5KIIalpha owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2858 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P48426 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8999 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1277 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:89 biolink:NamedThing orphanet.nt ACAD1|MCAD|MCADH|medium-chain acyl-CoA dehydrogenase owl:Class REACT:P11310 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9004 biolink:NamedThing orphanet.nt POTX|PTX1 owl:Class REACT:P78337 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9005 biolink:NamedThing orphanet.nt ARP1|Brx1|IGDS|Otlx2|RS owl:Class REACT:Q99697 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9006 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9008 biolink:NamedThing orphanet.nt PBP|Pc-1|polycystin 1|transient receptor potential cation channel, subfamily P, member 1|TRPP1 owl:Class REACT:P98161 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9009 biolink:NamedThing orphanet.nt Pc-2|PC2|PKD4|transient receptor potential cation channel, subfamily P, member 2|TRPP2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=504 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q13563 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9016 biolink:NamedThing orphanet.nt ARPKD|FCYT|fibrocystin|fibrocystin/polyductin complex|FPC|polyductin|tigmin owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9020 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3007 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P30613 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9023 biolink:NamedThing orphanet.nt B6P|ectodermal dysplasia/skin fragility syndrome owl:Class REACT:Q13835 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9024 biolink:NamedThing orphanet.nt owl:Class REACT:Q99959 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9035 biolink:NamedThing orphanet.nt cPLA2-alpha owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1424 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P47712 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9038 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1430 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P39877 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9039 biolink:NamedThing orphanet.nt iPLA2|iPLA2beta|NBIA2|Neurodegeneration with brain iron accumulation 2|PARK14|PNPLA9 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1431 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O60733 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:903 biolink:NamedThing orphanet.nt PPP1R49|protein phosphatase 1, regulatory subunit 49 owl:Class REACT:O15169 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9043 biolink:NamedThing orphanet.nt DOA1|DOA1 homolog (S. cerevisiae)|FLJ11281|FLJ12699|PLA2P|PLAP owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9045 biolink:NamedThing orphanet.nt ZNF912 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9046 biolink:NamedThing orphanet.nt LOT1|ZAC owl:Class REACT:Q9UM63 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:904 biolink:NamedThing orphanet.nt axil|conductin|DKFZp781B0869|MGC126582 owl:Class REACT:Q9Y2T1 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9051 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2392 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P00750 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9052 biolink:NamedThing orphanet.nt UPA|URK owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2393 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P00749 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9056 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1405 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q01970 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9059 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1406 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q15147 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9060 biolink:NamedThing orphanet.nt 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1409 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P51178 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9066 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1408 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P16885 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9069 biolink:NamedThing orphanet.nt PCN|PLTN owl:Class REACT:Q15149 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9071 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2394 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P00747 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9075 biolink:NamedThing orphanet.nt A2AP|AAP|alpha-2-antiplasmin|ALPHA-2-PI|alpha-2-plasmin inhibitor|API owl:Class REACT:P08697 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9076 biolink:NamedThing orphanet.nt owl:Class REACT:O60240 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9080 biolink:NamedThing orphanet.nt CMD1P owl:Class REACT:P26678 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9081 biolink:NamedThing orphanet.nt LH1|lysyl hydroxlase 1 owl:Class REACT:Q02809 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9082 biolink:NamedThing orphanet.nt LH2|lysyl hydroxlase 2|procollagen-lysine 5-dioxygenase owl:Class REACT:O00469 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9083 biolink:NamedThing orphanet.nt LH3|Lysyl hydroxlase 3 owl:Class REACT:O60568 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9086 biolink:NamedThing orphanet.nt GPM6C|Pelizaeus-Merzbacher disease owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9090 biolink:NamedThing orphanet.nt I-plastin|Plastin-1 owl:Class REACT:Q14651 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9091 biolink:NamedThing orphanet.nt T-plastin owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:90 biolink:NamedThing orphanet.nt ACAD3|SCAD owl:Class REACT:P16219 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9107 biolink:NamedThing orphanet.nt KIAA0620 owl:Class REACT:Q9Y4D7 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9113 biolink:NamedThing orphanet.nt MYL|RNF71|TRIM19 owl:Class REACT:P29590 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9115 biolink:NamedThing orphanet.nt CDG1a|CDGS|mannose-6-phosphate isomerase|phosphomannose isomerase 1|PMI|PMI1 owl:Class REACT:O15305 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9117 biolink:NamedThing orphanet.nt FABP8|M-FABP|MP2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2544 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9118 biolink:NamedThing orphanet.nt GAS3|HNPP|Sp110 owl:Class REACT:Q01453 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9119 biolink:NamedThing orphanet.nt MPPB|MPPP52 owl:Class REACT:O75439 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9121 biolink:NamedThing orphanet.nt MLH2 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9122 biolink:NamedThing orphanet.nt H_DJ0042M02.9|HNPCC4|MLH4 owl:Class REACT:P54278 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9137 biolink:NamedThing orphanet.nt p5|p6|PM/Scl-75|polymyositis/scleroderma autoantigen 1 (75kD)|RRP45|Rrp45p owl:Class REACT:Q06265 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9141 biolink:NamedThing orphanet.nt HUMPMKI|PMK|PMKA owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=641 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q15126 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9142 biolink:NamedThing orphanet.nt PHOX1 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9143 biolink:NamedThing orphanet.nt NBPhox|Phox2b owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:914 biolink:NamedThing orphanet.nt owl:Class REACT:P61769 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9153 biolink:NamedThing orphanet.nt BRP17|DKFZp564N1362|DYT8|FKSG19|FPD1|KIAA1184|KIPP1184|MGC31943|MR-1|MR-1S|myofibrillogenesis regulator 1|PDC|PKND1|TAHCCP2 owl:Class REACT:Q8N490 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9154 biolink:NamedThing orphanet.nt PNK owl:Class REACT:Q96T60 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9160 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2496 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P11086 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9171 biolink:NamedThing orphanet.nt Gp200|PC|PCLP owl:Class REACT:O00592 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9173 biolink:NamedThing orphanet.nt p180 owl:Class REACT:P09884 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9175 biolink:NamedThing orphanet.nt CDC2|CDC2 homolog (S. cerevisiae) owl:Class REACT:P28340 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9177 biolink:NamedThing orphanet.nt DNA polymerase epsilon catalytic subunit A|POLE1 owl:Class REACT:Q07864 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9179 biolink:NamedThing orphanet.nt POLG1|POLGA owl:Class REACT:P54098 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9180 biolink:NamedThing orphanet.nt HP55|MTPOLB owl:Class REACT:Q9UHN1 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9181 biolink:NamedThing orphanet.nt RAD30A|XP-V owl:Class REACT:Q9Y253 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:91 biolink:NamedThing orphanet.nt ACAD7|SBCAD owl:Class REACT:P45954 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9201 biolink:NamedThing orphanet.nt ACTH|adrenocorticotropic hormone|adrenocorticotropin|alpha-melanocyte stimulating hormone|beta-endorphin|beta-lipotropin|beta-melanocyte stimulating hormone|CLIP|LPH|MSH|NPP|opiomelanocortin prepropeptide|POC owl:Class REACT:P01189 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9202 biolink:NamedThing orphanet.nt dolichyl-phosphate-mannose-protein mannosyltransferase|LGMD2K owl:Class REACT:Q9Y6A1 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9204 biolink:NamedThing orphanet.nt arylesterase 1|ESA|esterase A owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3052 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P27169 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9205 biolink:NamedThing orphanet.nt arylesterase 2|paraoxonase nirs owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3053 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q15165 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9206 biolink:NamedThing orphanet.nt arylesterase 3 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3054 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q15166 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9208 biolink:NamedThing orphanet.nt CYPOR|FLJ26468|NADPH--hemoprotein reductase owl:Class REACT:P16435 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9210 biolink:NamedThing orphanet.nt GHF-1|growth hormone factor 1|PIT-1|pituitary transcript factor 1|POU1F1a owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9211 biolink:NamedThing orphanet.nt BOB1|OBF1 owl:Class REACT:Q16633 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9217 biolink:NamedThing orphanet.nt brain-4|BRN4|DFNX2|Octamer-binding transcription factor 9|OTF9 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9220 biolink:NamedThing orphanet.nt BRN3C owl:Class REACT:Q15319 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9236 biolink:NamedThing orphanet.nt NR1C3|PPARG1|PPARG2|PPARgamma owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=595 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P37231 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9237 biolink:NamedThing orphanet.nt PGC1|PGC1A|PGC-1alpha|PPARgamma coactivator 1alpha owl:Class REACT:Q9UBK2 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:923 biolink:NamedThing orphanet.nt galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3|GlcAT-I|glucuronosyltransferase I owl:Class REACT:O94766 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:924 biolink:NamedThing orphanet.nt beta4Gal-T1 owl:Class REACT:P15291 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9251 biolink:NamedThing orphanet.nt carboxypeptidase C|carboxypeptidase-L|carboxypeptidase Y-like kininase|deamidase|lysosomal carboxypeptidase A|lysosomal protective protein|urinary kininase owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1581 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P10619 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9255 biolink:NamedThing orphanet.nt B|cyclophilin B|CYPB|CYP-S1|OI9|peptidyl-prolyl cis-trans isomerase B|PPIase|rotamase B|S-cyclophilin|SCYLP owl:Class REACT:P23284 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9276 biolink:NamedThing orphanet.nt PP2CB|PP2CBETA|PPC2BETAX|protein phosphatase 2C, beta isoform owl:Class REACT:O75688 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9277 biolink:NamedThing orphanet.nt PP2C-DELTA|protein phosphatase 2C, delta isoform|wild-type p53-induced phosphatase 1|Wip1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3134 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O15297 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9279 biolink:NamedThing orphanet.nt PDH|PDP|PPM2A|protein phosphatase, Mg2+/Mn2+ dependent 2A owl:Class REACT:Q9P0J1 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9280 biolink:NamedThing orphanet.nt PPO owl:Class REACT:P50336 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9282 biolink:NamedThing orphanet.nt PP-1B|PP1B|PP1beta owl:Class REACT:P62140 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:92 biolink:NamedThing orphanet.nt ACAD6|LCACD|VLCAD owl:Class REACT:P49748 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9302 biolink:NamedThing orphanet.nt PP2AA|PP2A-Aalpha|PR65A|protein phosphatase 2, 65kDa regulatory subunit A|protein phosphatase 2A, regulatory subunit A, alpha isoform|protein phosphatase 2A structural subunit A, alpha isoform owl:Class REACT:P30153 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9305 biolink:NamedThing orphanet.nt B55beta|PP2A subunit B isoform beta|PR52B|PR55-BETA owl:Class REACT:Q00005 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:930 biolink:NamedThing orphanet.nt beta4Gal-T7|galactosyltransferase I|XGALT-1 owl:Class REACT:Q9UBV7 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9312 biolink:NamedThing orphanet.nt B56D|B56delta owl:Class REACT:Q14738 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9314 biolink:NamedThing orphanet.nt calcineurin A alpha|CNA1|PPP2B|protein phosphatase 2B, catalytic subunit, alpha isoform owl:Class REACT:Q08209 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9325 biolink:NamedThing orphanet.nt ceroid-lipofuscinosis, neuronal 1, infantile|CLN1|INCL owl:Class REACT:P50897 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:932 biolink:NamedThing orphanet.nt BAT|glycine N-choloyltransferase owl:Class REACT:Q14032 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9330 biolink:NamedThing orphanet.nt owl:Class REACT:O60828 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9343 biolink:NamedThing orphanet.nt RCCP1 owl:Class REACT:Q92733 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9349 biolink:NamedThing orphanet.nt PFM2 owl:Class REACT:Q9NQX1 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9350 biolink:NamedThing orphanet.nt KMT8C|PRISM owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9359 biolink:NamedThing orphanet.nt deafness, neurosensory, autosomal recessive, 61|DFNB61 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1104 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9360 biolink:NamedThing orphanet.nt HPLH2|P1|Perforin|perforin 1 (preforming protein)|PFP owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3100 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9364 biolink:NamedThing orphanet.nt articular superficial zone protein|bG174L6.2|bG174L6.2 (MSF: megakaryocyte stimulating factor )|camptodactyly, arthropathy, coxa vara, pericarditis syndrome|FLJ32635|HAPO|Jacobs camptodactyly-arthropathy-pericarditis syndrome|JCAP|lubricin|megakaryocyte stimulating factor|MSF|SZP owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9380 biolink:NamedThing orphanet.nt PKACa owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1476 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P17612 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9382 biolink:NamedThing orphanet.nt PKACg owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1478 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P22612 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9386 biolink:NamedThing orphanet.nt AAKG|AAKG2|AMPK gamma2|CMH6|H91620p|WPWS owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1546 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q9UGJ0 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9388 biolink:NamedThing orphanet.nt Carney complex type 1|CNC1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1472 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P10644 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9390 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1473 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P31321 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9394 biolink:NamedThing orphanet.nt dJ1039K5|MGC15204 owl:Class REACT:Q9NRD5 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9399 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1485 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q05655 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:939 biolink:NamedThing orphanet.nt BAG family molecular chaperone regulator 3 owl:Class REACT:O95817 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:93 biolink:NamedThing orphanet.nt acetoacetyl Coenzyme A thiolase|THIL owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2435 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P24752 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9402 biolink:NamedThing orphanet.nt MGC57564|PKCC|PKC-gamma owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1484 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P05129 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9407 biolink:NamedThing orphanet.nt PKCM|PKC-mu|PKD owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1489 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q15139 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9411 biolink:NamedThing orphanet.nt advanced glycation end-product receptor 2|GIIB|glucosidase 2 subunit beta|glucosidase II beta subunit|hepatocystin|VASAP-60 owl:Class REACT:P14314 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9412 biolink:NamedThing orphanet.nt PKC2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1491 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9413 biolink:NamedThing orphanet.nt DNA-dependent protein kinase|DNA-dependent protein kinase catalytic subunit|DNAPK|DNAPKc|DNA-PKC|DNA-PKcs|DNPK1|p350|p460|XRCC7 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2800 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P78527 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9414 biolink:NamedThing orphanet.nt PGK|PKG|PKG1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1492 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q13976 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9438 biolink:NamedThing orphanet.nt DYT16|HSD14|PACT|protein activator of the interferon-induced protein kinase|RAX owl:Class REACT:O75569 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9439 biolink:NamedThing orphanet.nt endoplasmic reticulum DNA J domain-containing protein 6|ERdj6|HP58|interferon-induced, double-stranded RNA-activated protein kinase inhibitor|P58|P58IPK|protein kinase inhibitor of 58 kDa owl:Class REACT:Q13217 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9446 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1721 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P16471 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9449 biolink:NamedThing orphanet.nt AltPrP|CD230|Creutzfeldt-Jakob disease|fatal familial insomnia|Gerstmann-Strausler-Scheinker syndrome|p27-30|PRP owl:Class REACT:P04156 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9451 biolink:NamedThing orphanet.nt prepro-protein C owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2396 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P04070 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9452 biolink:NamedThing orphanet.nt CCD41|CD201|EPCR owl:Class REACT:Q9UNN8 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9453 biolink:NamedThing orphanet.nt HSPOX2|PIG6|PRODH1|PRODH2|proline oxidase|TP53I6 owl:Class REACT:O43272 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9454 biolink:NamedThing orphanet.nt AC133|CD133|CORD12|RP41 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9455 biolink:NamedThing orphanet.nt owl:Class REACT:O75360 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9456 biolink:NamedThing orphanet.nt owl:Class REACT:P07225 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9457 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9460 biolink:NamedThing orphanet.nt PZ owl:Class REACT:P22891 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9461 biolink:NamedThing orphanet.nt PRPH1 owl:Class REACT:P41219 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9462 biolink:NamedThing orphanet.nt CMTX5|DFNX1|PRS I|ribose-phosphate diphosphokinase 1 owl:Class REACT:P60891 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9475 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2397 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P07477 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9476 biolink:NamedThing orphanet.nt ARMD7|HtrA|IGFBP5-protease owl:Class REACT:Q92743 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9477 biolink:NamedThing orphanet.nt BSSP-3|motopsin|MRT1|neurotrypsin owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9479 biolink:NamedThing orphanet.nt hLON|LonHS|PIM1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3180 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9483 biolink:NamedThing orphanet.nt TRY2|trypsin 2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2398 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P07478 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9490 biolink:NamedThing orphanet.nt enteropeptidase|ENTK|MGC133046|proenterokinase owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9495 biolink:NamedThing orphanet.nt ACPA|AGP7|C-ANCA|MBT|myeloblastin|P29|PR-3|serine proteinase, neutrophil|Wegener granulomatosis autoantigen owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2401 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P24158 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9498 biolink:NamedThing orphanet.nt variant Gaucher disease and variant metachromatic leukodystrophy owl:Class REACT:P07602 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9508 biolink:NamedThing orphanet.nt FAD|PS1|S182 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2402 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P49768 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9509 biolink:NamedThing orphanet.nt AD3L|PS2|STM2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2403 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P49810 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:950 biolink:NamedThing orphanet.nt hucep-6|KIAA0272|ubiquitin carboxy-terminal hydrolase|UCHL2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2332 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q92560 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:951 biolink:NamedThing orphanet.nt NKX3.2|NKX3B owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:952 biolink:NamedThing orphanet.nt owl:Class REACT:Q99728 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9545 biolink:NamedThing orphanet.nt beta5i|D6S216E|PSMB5i|RING10 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2408 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P28062 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9557 biolink:NamedThing orphanet.nt p55|Rpn5 owl:Class REACT:O00232 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9577 biolink:NamedThing orphanet.nt owl:Class REACT:P78330 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9580 biolink:NamedThing orphanet.nt CD2 antigen-binding protein 1|CD2BP1|CD2BP1L|CD2BP1S|CD2 cytoplasmic tail-binding protein|H-PIP|PAPAS|PEST phosphatase-interacting protein 1|PSTPIP owl:Class REACT:O43586 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9585 biolink:NamedThing orphanet.nt BCNS owl:Class REACT:Q13635 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9586 biolink:NamedThing orphanet.nt owl:Class REACT:Q9Y6C5 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9587 biolink:NamedThing orphanet.nt KIAA0024|PSS1|PSSA owl:Class REACT:P48651 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9588 biolink:NamedThing orphanet.nt MMAC1|mutated in multiple advanced cancers 1|PTEN1|TEP1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2497 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P60484 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:95 biolink:NamedThing orphanet.nt AT-1|AT1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1134 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O00400 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9603 biolink:NamedThing orphanet.nt CYP8A1|cytochrome P450, family 8, subfamily A, polypeptide 1|PGIS|prostacyclin synthase owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1356 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q16647 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9606 biolink:NamedThing orphanet.nt parathormone|parathyrin|parathyroid hormone 1|preproparathyroid hormone|prepro-PTH|PTH1 owl:Class REACT:P01270 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9607 biolink:NamedThing orphanet.nt HHM|osteostatin|parathyroid hormone-like hormone preproprotein|parathyroid hormone-related protein preproprotein|PLP|PTHR|PTHRP owl:Class REACT:P12272 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9608 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=331 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q03431 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:961 biolink:NamedThing orphanet.nt transcription factor WSTF|Williams-Beuren syndrome chromosome region 10|Williams-Beuren syndrome chromosome region 9|WSTF owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2774 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q9UIG0 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9639 biolink:NamedThing orphanet.nt CAP|cementum attachment protein|Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1 owl:Class REACT:B0YJ81 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9644 biolink:NamedThing orphanet.nt BPTP3|PTP2C|SHP-2|SHP2|SH-PTP2 owl:Class REACT:Q06124 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9647 biolink:NamedThing orphanet.nt PEZ owl:Class REACT:Q15678 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9650 biolink:NamedThing orphanet.nt TCELLPTP|TC-PTP|TCPTP owl:Class REACT:P17706 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9652 biolink:NamedThing orphanet.nt Lyp|Lyp1|Lyp2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3084 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q9Y2R2 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9655 biolink:NamedThing orphanet.nt PTPH1 owl:Class REACT:P26045 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9666 biolink:NamedThing orphanet.nt GP180|LCA|T200 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1852 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P08575 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:966 biolink:NamedThing orphanet.nt FLJ23590 owl:Class REACT:Q8NFJ9 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9670 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1855 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P10586 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9678 biolink:NamedThing orphanet.nt GLEPP1|NPHS6|osteoclastic transmembrane protein-tyrosine phosphatase|PTP-oc|PTP-U2|PTPU2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1863 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:Q16827 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9679 biolink:NamedThing orphanet.nt phosphatidylinositol phosphatase PTPRQ owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1864 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:967 biolink:NamedThing orphanet.nt owl:Class REACT:Q9BXC9 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9688 biolink:NamedThing orphanet.nt cavin-1|CGL4|congenital generalized lipodystrophy 4 owl:Class REACT:Q6NZI2 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9689 biolink:NamedThing orphanet.nt PTPS owl:Class REACT:Q03393 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:969 biolink:NamedThing orphanet.nt owl:Class REACT:Q96RK4 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9701 biolink:NamedThing orphanet.nt PUR1|PUR-ALPHA|PURALPHA owl:Class REACT:Q00577 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9706 biolink:NamedThing orphanet.nt CD111|CLPED1|HIgR|nectin|OFC7|PRR|PRR1|PVRR1|SK-12 owl:Class REACT:Q15223 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:970 biolink:NamedThing orphanet.nt DKFZp762I194 owl:Class REACT:Q8N3I7 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9713 biolink:NamedThing orphanet.nt D1S2223E|HK33|housekeeping gene, 33kD|PMP1|PMPI|PXMP1 owl:Class REACT:P40855 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9717 biolink:NamedThing orphanet.nt PAF-1|peroxin 2|PMP35|RNF72|Zellweger syndrome|ZWS3 owl:Class REACT:P28328 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9719 biolink:NamedThing orphanet.nt peroxisomal import receptor 5|peroxisomal targeting signal 1 receptor|PTS1R owl:Class REACT:P50542 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9721 biolink:NamedThing orphanet.nt P5C owl:Class REACT:P32322 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9722 biolink:NamedThing orphanet.nt P5CS owl:Class REACT:P54886 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9725 biolink:NamedThing orphanet.nt glycogen phosphorylase, liver form|glycogen storage disease type VI|Hers disease owl:Class REACT:P06737 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9726 biolink:NamedThing orphanet.nt glycogen phosphorylase, muscle form|glycogen storage disease type V|McArdle syndrome|myophosphorylase owl:Class REACT:P11217 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9751 biolink:NamedThing orphanet.nt glutamine tRNA ligase owl:Class REACT:P47897 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9752 biolink:NamedThing orphanet.nt 6,7-dihydropteridine reductase|DHPR|PKU2|SDR33C1|short chain dehydrogenase/reductase family 33C, member 1 owl:Class REACT:P09417 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9760 biolink:NamedThing orphanet.nt YL8 owl:Class REACT:P62491 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9766 biolink:NamedThing orphanet.nt GS2|HsT18676|RAB27|RAM owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2916 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P51159 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9768 biolink:NamedThing orphanet.nt owl:Class REACT:P51157 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9787 biolink:NamedThing orphanet.nt owl:Class REACT:O95235 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9788 biolink:NamedThing orphanet.nt owl:Class REACT:P51149 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9801 biolink:NamedThing orphanet.nt p21-Rac1|Rac-1|TC-25 owl:Class REACT:P63000 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9802 biolink:NamedThing orphanet.nt EN-7 owl:Class REACT:P15153 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9811 biolink:NamedThing orphanet.nt hHR21|KIAA0078|kleisin|SCC1|sister chromatid cohesion 1 owl:Class REACT:O60216 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9816 biolink:NamedThing orphanet.nt hRad50|RAD50-2 owl:Class REACT:Q92878 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9817 biolink:NamedThing orphanet.nt BRCA1/BRCA2-containing complex, subunit 5|BRCC5|FANCR|HsRad51|HsT16930 owl:Class REACT:Q06609 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9820 biolink:NamedThing orphanet.nt FANCO|RAD51L2 owl:Class REACT:O43502 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9823 biolink:NamedThing orphanet.nt DNA repair protein RAD51 homolog 4|HsTRAD|R51H3|Recombination repair protein|Trad owl:Class REACT:O75771 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9826 biolink:NamedThing orphanet.nt hHR54|hRAD54|RAD54A owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9829 biolink:NamedThing orphanet.nt c-Raf|CRAF|C-Raf proto-oncogene, serine/threonine kinase|Raf-1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2184 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P04049 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9831 biolink:NamedThing orphanet.nt MGC43321|recombination activating protein 1|RING finger protein 74|RNF74|V(D)J recombination-activating protein 1 owl:Class REACT:P15918 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9832 biolink:NamedThing orphanet.nt owl:Class REACT:P55895 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9834 biolink:NamedThing orphanet.nt DKFZP434A139|KIAA1820|MGC12824|SMS owl:Class REACT:Q7Z5J4 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:983 biolink:NamedThing orphanet.nt E1 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2471 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P06276 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9848 biolink:NamedThing orphanet.nt ADANE|nucleoporin 358|NUP358 owl:Class REACT:P49792 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9863 biolink:NamedThing orphanet.nt CMS1D|CMS1E|rapsyn|RNF205 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9864 biolink:NamedThing orphanet.nt NR1B1|RAR owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=590 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P10276 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9865 biolink:NamedThing orphanet.nt HAP|NR1B2|RRB2 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=591 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P10826 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:986 biolink:NamedThing orphanet.nt maple syrup urine disease|MSU owl:Class REACT:P12694 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9870 biolink:NamedThing orphanet.nt arginine tRNA ligase 1, cytoplasmic|DALRD1 owl:Class REACT:P54136 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9871 biolink:NamedThing orphanet.nt capillary malformation-arteriovenous malformation|CM-AVM|GAP|p120|p120GAP|p120RASGAP|p120 RAS GTPase activating protein owl:Class REACT:P20936 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9872 biolink:NamedThing orphanet.nt GAP1M owl:Class REACT:Q15283 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9878 biolink:NamedThing orphanet.nt calcium- and diacylglycerol-regulated guanine nucleotide exchange factor II|CalDAG-GEFII|RASGRP owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3016 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:O95267 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9879 biolink:NamedThing orphanet.nt calcium- and diacylglycerol-regulated guanine nucleotide exchange factor I|CALDAG-GEFI owl:Class REACT:Q7LDG7 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:987 biolink:NamedThing orphanet.nt 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial|maple syrup urine disease owl:Class REACT:P21953 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9884 biolink:NamedThing orphanet.nt PPP1R130|prepro-retinoblastoma-associated protein|protein phosphatase 1, regulatory subunit 130|RB owl:Class REACT:P06400 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9891 biolink:NamedThing orphanet.nt COM1|CTBP-interacting protein|CtIP|RIM owl:Class REACT:Q99708 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9896 biolink:NamedThing orphanet.nt DXS8237E|GPATC9|GPATCH9|KIAA0122|S1-1|ZRANB5 owl:Class REACT:P98175 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:989 biolink:NamedThing orphanet.nt CARD-containing apoptotic signaling protein|CARD containing molecule enhancing NF-kB|CARD-containing proapoptotic protein|CARD-like apoptotic protein|CARMEN|caspase-recruiting domain-containing protein|c-E10|CIPER|CLAP|mE10 owl:Class REACT:O95999 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9905 biolink:NamedThing orphanet.nt BOV-1A|BOV-1B|BOV-1C|RBM8B|Y14|ZNRP owl:Class REACT:Q9Y5S9 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:990 biolink:NamedThing orphanet.nt Bcl-2|PPP1R50|protein phosphatase 1, regulatory subunit 50 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2844 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P10415 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9912 biolink:NamedThing orphanet.nt YRRM1|YRRM2 owl:Class REACT:P0DJD3 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9921 biolink:NamedThing orphanet.nt D10S64|D10S65|D10S66|interstitial retinol-binding protein 3|RP66 owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2548 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P10745 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9922 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2549 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P02753 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9936 biolink:NamedThing orphanet.nt COD5|cone dystrophy 5 (X-linked) owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2961 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P04000 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9940 biolink:NamedThing orphanet.nt HSD17B9|SDR9C5|short chain dehydrogenase/reductase family 9C, member 5 owl:Class REACT:Q92781 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9942 biolink:NamedThing orphanet.nt CACD2|rd2|retinal peripherin|TSPAN22 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9944 biolink:NamedThing orphanet.nt owl:Class REACT:P35241 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9949 biolink:NamedThing orphanet.nt RecQ4 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9955 biolink:NamedThing orphanet.nt p65 owl:Class REACT:Q04206 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9957 biolink:NamedThing orphanet.nt PRO1598|RL owl:Class REACT:P78509 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9958 biolink:NamedThing orphanet.nt owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2413 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P00797 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9964 biolink:NamedThing orphanet.nt BAF45d|ubi-d4 owl:Class REACT:Q92785 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9965 biolink:NamedThing orphanet.nt ARG|ARP|DNB1|KIAA0458 owl:Class REACT:Q9P2R6 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9966 biolink:NamedThing orphanet.nt neuron-restrictive silencer factor|NRSF|XBR owl:Class REACT:Q13127 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9967 biolink:NamedThing orphanet.nt cadherin-related family member 16|CDHF12|CDHR16|PTC|rearranged during transfection|RET51|RET receptor tyrosine kinase owl:Class http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2185 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class REACT:P07949 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9968 biolink:NamedThing orphanet.nt polymerase, DNA, zeta|POLZ|REV3 owl:Class REACT:O60673 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9969 biolink:NamedThing orphanet.nt A1|MHCBFB|PO-GA|RFC140 owl:Class REACT:P35251 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9970 biolink:NamedThing orphanet.nt A1|activator 1|RFC40 owl:Class REACT:P35250 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9975 biolink:NamedThing orphanet.nt RNF76 owl:Class REACT:P14373 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9986 biolink:NamedThing orphanet.nt owl:Class REACT:P48382 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9987 biolink:NamedThing orphanet.nt ANKRA1|ankyrin repeat-containing regulatory factor X-associated protein|BLS|DNA-binding protein RFXANK|F14150_1|MGC138628|regulatory factor X subunit B|RFX-B|RFX-Bdelta4 owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9988 biolink:NamedThing orphanet.nt owl:Class https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9990 biolink:NamedThing orphanet.nt RGR-opsin|RP44 owl:Class REACT:P47804 biolink:NamedThing|biolink:Gene orphanet.nt owl:Class OIO:hasExactSynonym biolink:NamedThing orphanet.nt owl:AnnotationProperty rdfs:label biolink:NamedThing orphanet.nt owl:AnnotationProperty https://archive.monarchinitiative.org/#orphanet biolink:NamedThing orphanet.nt owl:Ontology