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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 |
|---|---|---|---|---|---|
| C0039101 | synovial sarcoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0039101 | synovial sarcoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0039101 | synovial sarcoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0039101 | synovial sarcoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0039101 | synovial sarcoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0042974 | von Willebrand Disease | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0042974 | von Willebrand Disease | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0042974 | von Willebrand Disease | CANX | 821 | calnexin | P27824 |
| C0042974 | von Willebrand Disease | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C1264039 | von Willebrand Disease, Type 1 | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1264039 | von Willebrand Disease, Type 1 | HPSE | 10855 | heparanase | Q9Y251 |
| C1264039 | von Willebrand Disease, Type 1 | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
| C1282975 | von Willebrand Disease, Type 2N | OTOA | 146183 | otoancorin | Q7RTW8 |
| C1282975 | von Willebrand Disease, Type 2N | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C1282975 | von Willebrand Disease, Type 2N | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C1264041 | von Willebrand Disease, Type 3 | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
| C1264041 | von Willebrand Disease, Type 3 | SELP | 6403 | selectin P | P16109 |
| C1264041 | von Willebrand Disease, Type 3 | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
