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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C4551898 | Cholestasis, progressive familial intrahepatic 1 | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| 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 |
| C2931067 | Cholestasis, progressive familial intrahepatic 4 | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0008373 | Cholesteatoma | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
| C0008373 | Cholesteatoma | CLEC10A | 10462 | C-type lectin domain containing 10A | Q8IUN9 |
| C0008373 | Cholesteatoma | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C0008373 | Cholesteatoma | CLEC5A | 23601 | C-type lectin domain containing 5A | Q9NY25 |
| C0008373 | Cholesteatoma | LY75 | 4065 | lymphocyte antigen 75 | O60449 |
