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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 |
|---|---|---|---|---|---|
| C0007789 | Cerebral Palsy | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0007789 | Cerebral Palsy | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0007789 | Cerebral Palsy | RENBP | 5973 | renin binding protein | P51606 |
| C0007789 | Cerebral Palsy | ACSM1 | 116285 | acyl-CoA synthetase medium chain family member 1 | Q08AH1 |
| C0007789 | Cerebral Palsy | ACSM2A | 123876 | acyl-CoA synthetase medium chain family member 2A | Q08AH3 |
| C0007789 | Cerebral Palsy | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0007789 | Cerebral Palsy | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0007789 | Cerebral Palsy | EFNA5 | 1946 | ephrin A5 | P52803 |
| C0007789 | Cerebral Palsy | ARSD | 414 | arylsulfatase D | P51689 |
| C0007789 | Cerebral Palsy | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0007789 | Cerebral Palsy | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0007789 | Cerebral Palsy | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0007789 | Cerebral Palsy | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0007789 | Cerebral Palsy | TKTL1 | 8277 | transketolase like 1 | P51854 |
| C2751938 | Cerebral Palsy, Spastic Quadriplegic, 1 | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0265110 | Cerebral Vasospasm | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0265110 | Cerebral Vasospasm | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0265110 | Cerebral Vasospasm | ACSM3 | 6296 | acyl-CoA synthetase medium chain family member 3 | Q53FZ2 |
| C1956261 | Cerebral Venous Angioma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0028790 | Cerebral artery occlusion | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0028790 | Cerebral artery occlusion | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0028790 | Cerebral artery occlusion | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0028790 | Cerebral artery occlusion | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0235946 | Cerebral atrophy | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0235946 | Cerebral atrophy | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
