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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 | 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 |
| 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 |
| C0268318 | Cholestasis of pregnancy | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0268318 | Cholestasis of pregnancy | KLB | 152831 | klotho beta | Q86Z14 |
| C0268318 | Cholestasis of pregnancy | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0268318 | Cholestasis of pregnancy | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0268318 | Cholestasis of pregnancy | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
