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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 |
|---|---|---|---|---|---|
| C0002438 | Amebiasis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0002438 | Amebiasis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0002418 | Amblyopia | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0002418 | Amblyopia | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0002418 | Amblyopia | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0002418 | Amblyopia | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0002418 | Amblyopia | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0002418 | Amblyopia | GALC | 2581 | galactosylceramidase | P54803 |
| C0002418 | Amblyopia | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0002418 | Amblyopia | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0002418 | Amblyopia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0266362 | Ambiguous Genitalia | PRSS21 | 10942 | serine protease 21 | Q9Y6M0 |
| C0266362 | Ambiguous Genitalia | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0266362 | Ambiguous Genitalia | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
| C0266362 | Ambiguous Genitalia | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0266362 | Ambiguous Genitalia | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C0266362 | Ambiguous Genitalia | AKR1C1 | 1645 | aldo-keto reductase family 1 member C1 | Q04828 |
| C0266362 | Ambiguous Genitalia | AKR1C2 | 1646 | aldo-keto reductase family 1 member C2 | P52895 |
| C0266362 | Ambiguous Genitalia | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0266362 | Ambiguous Genitalia | AKR1C3 | 8644 | aldo-keto reductase family 1 member C3 | P42330 |
| C0266362 | Ambiguous Genitalia | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0266362 | Ambiguous Genitalia | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0266362 | Ambiguous Genitalia | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0266362 | Ambiguous Genitalia | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0266362 | Ambiguous Genitalia | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
