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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 |
|---|---|---|---|---|---|
| C0008370 | Cholestasis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0008370 | Cholestasis | FH | 2271 | fumarate hydratase | P07954 |
| C0008370 | Cholestasis | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0008370 | Cholestasis | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0008370 | Cholestasis | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0008370 | Cholestasis | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0008370 | Cholestasis | ERLEC1 | 27248 | endoplasmic reticulum lectin 1 | Q96DZ1 |
| C0008370 | Cholestasis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0008370 | Cholestasis | HAO2 | 51179 | hydroxyacid oxidase 2 | Q9NYQ3 |
| C0008370 | Cholestasis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0008370 | Cholestasis | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C0008370 | Cholestasis | SULT2B1 | 6820 | sulfotransferase family 2B member 1 | O00204 |
| C0008370 | Cholestasis | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0008370 | Cholestasis | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0008370 | Cholestasis | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0008370 | Cholestasis | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0008370 | Cholestasis | CAT | 847 | catalase | P04040 |
| C0008370 | Cholestasis | CD14 | 929 | CD14 molecule | P08571 |
| C0008370 | Cholestasis | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C0008370 | Cholestasis | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0008370 | Cholestasis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0008370 | Cholestasis | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
| C0008370 | Cholestasis | ADH1A | 124 | alcohol dehydrogenase 1A (class I), alpha polypeptide | P07327 |
| C0008370 | Cholestasis | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0008370 | Cholestasis | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
