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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 |
|---|---|---|---|---|---|
| C0750952 | Biliary Tract Cancer | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0005426 | Biliary Tract Neoplasm | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0005426 | Biliary Tract Neoplasm | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0005426 | Biliary Tract Neoplasm | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0023892 | Biliary cirrhosis | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0023892 | Biliary cirrhosis | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0023892 | Biliary cirrhosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0023892 | Biliary cirrhosis | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0023892 | Biliary cirrhosis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0023892 | Biliary cirrhosis | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0023892 | Biliary cirrhosis | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0023892 | Biliary cirrhosis | CLEC16A | 23274 | C-type lectin domain containing 16A | Q2KHT3 |
| C1879344 | Biliary papillomatosis | HK1 | 3098 | hexokinase 1 | P19367 |
| C0270786 | Binswanger Disease | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0751780 | Biotin-Responsive Encephalopathy | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0751780 | Biotin-Responsive Encephalopathy | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751780 | Biotin-Responsive Encephalopathy | PRNP | 5621 | prion protein | P04156 |
| C0751780 | Biotin-Responsive Encephalopathy | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0751780 | Biotin-Responsive Encephalopathy | PRNP | 5621 | prion protein | F7VJQ1 |
| C1332556 | Biphasic Pulmonary Blastoma | CD74 | 972 | CD74 molecule | P04233 |
| C0005586 | Bipolar Disorder | MGAT4A | 11320 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A | Q9UM21 |
| C0005586 | Bipolar Disorder | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C0005586 | Bipolar Disorder | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0005586 | Bipolar Disorder | ST3GAL1 | 6482 | ST3 beta-galactoside alpha-2,3-sialyltransferase 1 | Q11201 |
| C0005586 | Bipolar Disorder | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
