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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 |
|---|---|---|---|---|---|
| C1852467 | Creutzfeldt-Jakob Disease, Sporadic | PRNP | 5621 | prion protein | P04156 |
| C1852467 | Creutzfeldt-Jakob Disease, Sporadic | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C1852467 | Creutzfeldt-Jakob Disease, Sporadic | MDH1 | 4190 | malate dehydrogenase 1 | P40925 |
| C1852467 | Creutzfeldt-Jakob Disease, Sporadic | PRNP | 5621 | prion protein | F7VJQ1 |
| C1852438 | CATARACT, COPPOCK-LIKE | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C1852438 | CATARACT, COPPOCK-LIKE | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1852438 | CATARACT, COPPOCK-LIKE | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1852438 | CATARACT, COPPOCK-LIKE | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1852438 | CATARACT, COPPOCK-LIKE | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1852222 | Failure of Tooth Eruption, Primary | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | PFKL | 5211 | phosphofructokinase, liver type | P17858 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | DGKH | 160851 | diacylglycerol kinase eta | Q86XP1 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | IMPA2 | 3613 | inositol monophosphatase 2 | O14732 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | PLA2G10 | 8399 | phospholipase A2 group X | O15496 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | PIP4K2A | 5305 | phosphatidylinositol-5-phosphate 4-kinase type 2 alpha | P48426 |
