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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 |
|---|---|---|---|---|---|
| C0740345 | Germ Cell Cancer | TDG | 6996 | thymine DNA glycosylase | Q13569 |
| C0740302 | 5q-syndrome | ANXA5 | 308 | annexin A5 | P08758 |
| C0740302 | 5q-syndrome | HMMR | 3161 | hyaluronan mediated motility receptor | O75330 |
| C0740302 | 5q-syndrome | CD14 | 929 | CD14 molecule | P08571 |
| C0740302 | 5q-syndrome | CD74 | 972 | CD74 molecule | P04233 |
| C0740277 | Bile duct carcinoma | MGAT5 | 4249 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase | Q09328 |
| C0740277 | Bile duct carcinoma | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0740277 | Bile duct carcinoma | ALDOA | 226 | aldolase, fructose-bisphosphate A | P04075 |
| C0740277 | Bile duct carcinoma | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0740277 | Bile duct carcinoma | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0740277 | Bile duct carcinoma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0740277 | Bile duct carcinoma | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0740277 | Bile duct carcinoma | ENPP3 | 5169 | ectonucleotide pyrophosphatase/phosphodiesterase 3 | O14638 |
| C0740277 | Bile duct carcinoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0740277 | Bile duct carcinoma | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0740277 | Bile duct carcinoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0740277 | Bile duct carcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0740277 | Bile duct carcinoma | MSLN | 10232 | mesothelin | Q13421 |
| C0740277 | Bile duct carcinoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0740277 | Bile duct carcinoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0740277 | Bile duct carcinoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0733682 | Hypophosphatemic Rickets, X-Linked Dominant | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0733682 | Hypophosphatemic Rickets, X-Linked Dominant | KL | 9365 | klotho | Q9UEF7 |
| C0733682 | Hypophosphatemic Rickets, X-Linked Dominant | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0733682 | Hypophosphatemic Rickets, X-Linked Dominant | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
