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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 |
|---|---|---|---|---|---|
| C4551898 | Cholestasis, progressive familial intrahepatic 1 | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C4551898 | Cholestasis, progressive familial intrahepatic 1 | OGA | 10724 | O-GlcNAcase | O60502 |
| C4551898 | Cholestasis, progressive familial intrahepatic 1 | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C4551898 | Cholestasis, progressive familial intrahepatic 1 | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0005398 | Cholestasis, Extrahepatic | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0005398 | Cholestasis, Extrahepatic | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0005398 | Cholestasis, Extrahepatic | LGALS1 | 3956 | galectin 1 | P09382 |
| C0005398 | Cholestasis, Extrahepatic | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C0005398 | Cholestasis, Extrahepatic | CYP8B1 | 1582 | cytochrome P450 family 8 subfamily B member 1 | Q9UNU6 |
| C0005398 | Cholestasis, Extrahepatic | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0005398 | Cholestasis, Extrahepatic | HMGCS2 | 3158 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 | P54868 |
| 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 |
| C0268318 | Cholestasis of pregnancy | ISYNA1 | 51477 | inositol-3-phosphate synthase 1 | Q9NPH2 |
| C0268318 | Cholestasis of pregnancy | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C0268318 | Cholestasis of pregnancy | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0268318 | Cholestasis of pregnancy | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C0268318 | Cholestasis of pregnancy | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0268318 | Cholestasis of pregnancy | PTGES3 | 10728 | prostaglandin E synthase 3 | Q15185 |
| C0268318 | Cholestasis of pregnancy | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0008370 | Cholestasis | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0008370 | Cholestasis | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
