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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 |
|---|---|---|---|---|---|
| C1857276 | Trichohepatoenteric Syndrome | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C1857276 | Trichohepatoenteric Syndrome | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C1857276 | Trichohepatoenteric Syndrome | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C1857276 | Trichohepatoenteric Syndrome | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C1857276 | Trichohepatoenteric Syndrome | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C1857276 | Trichohepatoenteric Syndrome | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C1857276 | Trichohepatoenteric Syndrome | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C1857276 | Trichohepatoenteric Syndrome | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C1857276 | Trichohepatoenteric Syndrome | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C1857276 | Trichohepatoenteric Syndrome | CALR | 811 | calreticulin | P27797 |
| C1857276 | Trichohepatoenteric Syndrome | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1857276 | Trichohepatoenteric Syndrome | TNKS | 8658 | tankyrase | O95271 |
| C1857276 | Trichohepatoenteric Syndrome | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C1857276 | Trichohepatoenteric Syndrome | CHGA | 1113 | chromogranin A | P10645 |
| C1857276 | Trichohepatoenteric Syndrome | CNTN4 | 152330 | contactin 4 | Q8IWV2 |
| C1857276 | Trichohepatoenteric Syndrome | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C1857276 | Trichohepatoenteric Syndrome | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1857276 | Trichohepatoenteric Syndrome | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C1857276 | Trichohepatoenteric Syndrome | FH | 2271 | fumarate hydratase | P07954 |
| C1857276 | Trichohepatoenteric Syndrome | LPL | 4023 | lipoprotein lipase | P06858 |
| C1857276 | Trichohepatoenteric Syndrome | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C1857276 | Trichohepatoenteric Syndrome | STS | 412 | steroid sulfatase | P08842 |
| C1857276 | Trichohepatoenteric Syndrome | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C1857276 | Trichohepatoenteric Syndrome | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C1857276 | Trichohepatoenteric Syndrome | CNTN3 | 5067 | contactin 3 | Q9P232 |
