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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 |
|---|---|---|---|---|---|
| C0266362 | Ambiguous Genitalia | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0266362 | Ambiguous Genitalia | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0266362 | Ambiguous Genitalia | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0266362 | Ambiguous Genitalia | HSD17B3 | 3293 | hydroxysteroid 17-beta dehydrogenase 3 | P37058 |
| C0266362 | Ambiguous Genitalia | HSD17B7 | 51478 | hydroxysteroid 17-beta dehydrogenase 7 | P56937 |
| C0266362 | Ambiguous Genitalia | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0266362 | Ambiguous Genitalia | DHRS11 | 79154 | dehydrogenase/reductase 11 | Q6UWP2 |
| 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 |
| C0002438 | Amebiasis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0002438 | Amebiasis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| 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 |
| C0013370 | Amebic colitis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0013370 | Amebic colitis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0013370 | Amebic colitis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0013370 | Amebic colitis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0002448 | Ameloblastoma | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
