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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C1876187 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL | KL | 9365 | klotho | Q9UEF7 |
| C1876173 | Heterotaxy, Visceroatrial, Autosomal Recessive | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C1876172 | VAH, AUTOSOMAL RECESSIVE | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C1876171 | Polyasplenia | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C1869123 | Limb-girdle muscular dystrophy type 2A | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1869123 | Limb-girdle muscular dystrophy type 2A | FKTN | 2218 | fukutin | O75072 |
| C1869123 | Limb-girdle muscular dystrophy type 2A | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1869123 | Limb-girdle muscular dystrophy type 2A | COG3 | 83548 | component of oligomeric golgi complex 3 | Q96JB2 |
| C1869122 | EHLERS-DANLOS SYNDROME, PROGEROID FORM | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C1869117 | Paroxysmal nonkinesigenic dyskinesia | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C1868720 | Periventricular Nodular Heterotopia | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C1868720 | Periventricular Nodular Heterotopia | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C1868720 | Periventricular Nodular Heterotopia | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1868720 | Periventricular Nodular Heterotopia | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C1868720 | Periventricular Nodular Heterotopia | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C1868684 | EAR, PATELLA, SHORT STATURE SYNDROME | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1868684 | EAR, PATELLA, SHORT STATURE SYNDROME | LYZ | 4069 | lysozyme | P61626 |
| C1868684 | EAR, PATELLA, SHORT STATURE SYNDROME | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C1868684 | EAR, PATELLA, SHORT STATURE SYNDROME | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C1868684 | EAR, PATELLA, SHORT STATURE SYNDROME | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C1868684 | EAR, PATELLA, SHORT STATURE SYNDROME | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1868684 | EAR, PATELLA, SHORT STATURE SYNDROME | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C1868684 | EAR, PATELLA, SHORT STATURE SYNDROME | FASN | 2194 | fatty acid synthase | P49327 |
| C1868684 | EAR, PATELLA, SHORT STATURE SYNDROME | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
| C1868684 | EAR, PATELLA, SHORT STATURE SYNDROME | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
