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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 |
|---|---|---|---|---|---|
| C0398791 | Nijmegen Breakage Syndrome | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0398791 | Nijmegen Breakage Syndrome | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0398791 | Nijmegen Breakage Syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0398791 | Nijmegen Breakage Syndrome | TMED3 | 23423 | transmembrane p24 trafficking protein 3 | Q9Y3Q3 |
| C0398791 | Nijmegen Breakage Syndrome | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0398791 | Nijmegen Breakage Syndrome | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0398791 | Nijmegen Breakage Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0398794 | Hypopigmentation-immunodeficiency disease | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0399352 | Developmental absence of tooth | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0399378 | Dentinogenesis imperfecta - Shield's type III (disorder) | AKR1C2 | 1646 | aldo-keto reductase family 1 member C2 | P52895 |
| C0399378 | Dentinogenesis imperfecta - Shield's type III (disorder) | AKR1C1 | 1645 | aldo-keto reductase family 1 member C1 | Q04828 |
| C0399440 | Hereditary gingival fibromatosis | HAS3 | 3038 | hyaluronan synthase 3 | O00219 |
| C0399440 | Hereditary gingival fibromatosis | HPSE | 10855 | heparanase | Q9Y251 |
| C0399440 | Hereditary gingival fibromatosis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0399440 | Hereditary gingival fibromatosis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0399440 | Hereditary gingival fibromatosis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0399440 | Hereditary gingival fibromatosis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0399440 | Hereditary gingival fibromatosis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0400821 | Colitis, Microscopic | CD14 | 929 | CD14 molecule | P08571 |
| C0400821 | Colitis, Microscopic | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0400822 | Colitis, Lymphocytic | CHGA | 1113 | chromogranin A | P10645 |
| C0400822 | Colitis, Lymphocytic | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0400966 | Non-alcoholic Fatty Liver Disease | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0400966 | Non-alcoholic Fatty Liver Disease | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0400966 | Non-alcoholic Fatty Liver Disease | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
