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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 |
|---|---|---|---|---|---|
| C0085136 | Central Nervous System Neoplasms | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0085136 | Central Nervous System Neoplasms | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0085136 | Central Nervous System Neoplasms | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0085136 | Central Nervous System Neoplasms | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0085136 | Central Nervous System Neoplasms | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0085136 | Central Nervous System Neoplasms | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0085136 | Central Nervous System Neoplasms | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0687720 | Central Diabetes Insipidus | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0687720 | Central Diabetes Insipidus | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| C0687720 | Central Diabetes Insipidus | ACOT8 | 10005 | acyl-CoA thioesterase 8 | O14734 |
| C0687720 | Central Diabetes Insipidus | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0687720 | Central Diabetes Insipidus | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0687720 | Central Diabetes Insipidus | CRYL1 | 51084 | crystallin lambda 1 | Q9Y2S2 |
| C0687720 | Central Diabetes Insipidus | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0687720 | Central Diabetes Insipidus | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0687720 | Central Diabetes Insipidus | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0687720 | Central Diabetes Insipidus | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0687720 | Central Diabetes Insipidus | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0687720 | Central Diabetes Insipidus | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0751951 | Central Core Myopathy (disorder) | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0751951 | Central Core Myopathy (disorder) | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0751951 | Central Core Myopathy (disorder) | FKTN | 2218 | fukutin | O75072 |
| C0751951 | Central Core Myopathy (disorder) | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0751951 | Central Core Myopathy (disorder) | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0751951 | Central Core Myopathy (disorder) | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
