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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 | 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 |
| C1857276 | Trichohepatoenteric Syndrome | PRNP | 5621 | prion protein | P04156 |
| C1857276 | Trichohepatoenteric Syndrome | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C1857276 | Trichohepatoenteric Syndrome | TECTA | 7007 | tectorin alpha | O75443 |
| C1857276 | Trichohepatoenteric Syndrome | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C1857276 | Trichohepatoenteric Syndrome | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C1857276 | Trichohepatoenteric Syndrome | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C1857276 | Trichohepatoenteric Syndrome | LPIN2 | 9663 | lipin 2 | Q92539 |
| C1857276 | Trichohepatoenteric Syndrome | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C1857276 | Trichohepatoenteric Syndrome | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C1857276 | Trichohepatoenteric Syndrome | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C1857276 | Trichohepatoenteric Syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1857276 | Trichohepatoenteric Syndrome | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C1857276 | Trichohepatoenteric Syndrome | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C1857276 | Trichohepatoenteric Syndrome | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C1857276 | Trichohepatoenteric Syndrome | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
