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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 | 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 |
| C2931258 | Amaurosis congenita of Leber, type 1 | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C2931258 | Amaurosis congenita of Leber, type 1 | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C2931258 | Amaurosis congenita of Leber, type 1 | NYX | 60506 | nyctalopin | Q9GZU5 |
| C2931258 | Amaurosis congenita of Leber, type 1 | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C2931258 | Amaurosis congenita of Leber, type 1 | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C2931258 | Amaurosis congenita of Leber, type 1 | PCYT1B | 9468 | phosphate cytidylyltransferase 1, choline, beta | Q9Y5K3 |
| C0149793 | Amaurosis Fugax | CALR | 811 | calreticulin | P27797 |
| C0149793 | Amaurosis Fugax | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0149793 | Amaurosis Fugax | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0002395 | Alzheimer's Disease | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0002395 | Alzheimer's Disease | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0002395 | Alzheimer's Disease | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0002395 | Alzheimer's Disease | HAS1 | 3036 | hyaluronan synthase 1 | Q92839 |
| C0002395 | Alzheimer's Disease | MGAT3 | 4248 | beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase | Q09327 |
| C0002395 | Alzheimer's Disease | HAS3 | 3038 | hyaluronan synthase 3 | O00219 |
| C0002395 | Alzheimer's Disease | ST6GAL1 | 6480 | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 | P15907 |
| C0002395 | Alzheimer's Disease | ST8SIA1 | 6489 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 | Q92185 |
| C0002395 | Alzheimer's Disease | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C0002395 | Alzheimer's Disease | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0002395 | Alzheimer's Disease | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
