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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 |
|---|---|---|---|---|---|
| C0750974 | Brain Tumor, Primary | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0750974 | Brain Tumor, Primary | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0750952 | Biliary Tract Cancer | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0750952 | Biliary Tract Cancer | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0750952 | Biliary Tract Cancer | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0750952 | Biliary Tract Cancer | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0750952 | Biliary Tract Cancer | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0750952 | Biliary Tract Cancer | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0750952 | Biliary Tract Cancer | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0750952 | Biliary Tract Cancer | SPHK1 | 8877 | sphingosine kinase 1 | Q9NYA1 |
| C0750952 | Biliary Tract Cancer | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0750952 | Biliary Tract Cancer | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C0750952 | Biliary Tract Cancer | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0750952 | Biliary Tract Cancer | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
| C0750952 | Biliary Tract Cancer | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0750952 | Biliary Tract Cancer | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0750952 | Biliary Tract Cancer | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0750952 | Biliary Tract Cancer | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0750952 | Biliary Tract Cancer | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0750927 | Apraxia, Developmental Verbal | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0750927 | Apraxia, Developmental Verbal | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0750927 | Apraxia, Developmental Verbal | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0750927 | Apraxia, Developmental Verbal | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0750927 | Apraxia, Developmental Verbal | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0750927 | Apraxia, Developmental Verbal | LGALS1 | 3956 | galectin 1 | P09382 |
