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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 |
|---|---|---|---|---|---|
| C0265961 | Erythrokeratodermia variabilis | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0265961 | Erythrokeratodermia variabilis | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0265962 | Ichthyosis linearis circumflexa | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0265962 | Ichthyosis linearis circumflexa | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0265962 | Ichthyosis linearis circumflexa | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0265965 | Dyskeratosis Congenita | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C0265965 | Dyskeratosis Congenita | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0265970 | Porokeratosis, Disseminated Superficial Actinic | FDPS | 2224 | farnesyl diphosphate synthase | P14324 |
| C0265985 | Mongolian Spot | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0266111 | Bifid tongue | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0266174 | Duodenal atresia | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0266174 | Duodenal atresia | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0266200 | Microcolon | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0266295 | Congenital hypoplasia of kidney | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0266295 | Congenital hypoplasia of kidney | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| 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 |
