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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 | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0008370 | Cholestasis | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0008370 | Cholestasis | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C0008370 | Cholestasis | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0008370 | Cholestasis | CYP8B1 | 1582 | cytochrome P450 family 8 subfamily B member 1 | Q9UNU6 |
| C0008370 | Cholestasis | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0008370 | Cholestasis | ALDH1B1 | 219 | aldehyde dehydrogenase 1 family member B1 | P30837 |
| C0008370 | Cholestasis | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0008370 | Cholestasis | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0008370 | Cholestasis | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0008370 | Cholestasis | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0008370 | Cholestasis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0008370 | Cholestasis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0008370 | Cholestasis | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0008370 | Cholestasis | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0008370 | Cholestasis | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
| C0008370 | Cholestasis | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0008370 | Cholestasis | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0008372 | Intrahepatic Cholestasis | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0008372 | Intrahepatic Cholestasis | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0008372 | Intrahepatic Cholestasis | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C0008372 | Intrahepatic Cholestasis | GPD2 | 2820 | glycerol-3-phosphate dehydrogenase 2 | P43304 |
| C0008372 | Intrahepatic Cholestasis | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
| C0008372 | Intrahepatic Cholestasis | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0008372 | Intrahepatic Cholestasis | MTM1 | 4534 | myotubularin 1 | Q13496 |
