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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 |
|---|---|---|---|---|---|
| C0268292 | Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0268292 | Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0268292 | Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0268292 | Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C0268292 | Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0268292 | Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency | GML | 2765 | glycosylphosphatidylinositol anchored molecule like | Q99445 |
| C0268301 | Reifenstein Syndrome | CD38 | 952 | CD38 molecule | P28907 |
| C0268312 | Progressive intrahepatic cholestasis (disorder) | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0268312 | Progressive intrahepatic cholestasis (disorder) | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0268312 | Progressive intrahepatic cholestasis (disorder) | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| 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 |
| C0268337 | Ehlers-Danlos syndrome, type 3 (disorder) | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0268353 | Cutis laxa, x-linked | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0268353 | Cutis laxa, x-linked | SLC35G1 | 159371 | solute carrier family 35 member G1 | Q2M3R5 |
