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 | 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 |
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 |
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Last updated: August 19, 2024