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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 |
|---|---|---|---|---|---|
| C0002395 | Alzheimer's Disease | HYI | 81888 | hydroxypyruvate isomerase (putative) | Q5T013 |
| C0002395 | Alzheimer's Disease | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0002395 | Alzheimer's Disease | PCYT1B | 9468 | phosphate cytidylyltransferase 1, choline, beta | Q9Y5K3 |
| C0002395 | Alzheimer's Disease | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| 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 |
| 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 |
| 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 |
