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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 |
|---|---|---|---|---|---|
| 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 |
| C2751938 | Cerebral Palsy, Spastic Quadriplegic, 1 | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0007789 | Cerebral Palsy | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C0007789 | Cerebral Palsy | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0007789 | Cerebral Palsy | ARSA | 410 | arylsulfatase A | P15289 |
| C0007789 | Cerebral Palsy | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0007789 | Cerebral Palsy | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0007789 | Cerebral Palsy | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0007789 | Cerebral Palsy | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0007789 | Cerebral Palsy | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0007789 | Cerebral Palsy | TIGAR | 57103 | TP53 induced glycolysis regulatory phosphatase | Q9NQ88 |
| C0007789 | Cerebral Palsy | CD109 | 135228 | CD109 molecule | Q6YHK3 |
| C0007789 | Cerebral Palsy | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0007789 | Cerebral Palsy | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0007789 | Cerebral Palsy | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0007789 | Cerebral Palsy | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0007789 | Cerebral Palsy | GMDS | 2762 | GDP-mannose 4,6-dehydratase | O60547 |
| C0007789 | Cerebral Palsy | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0007789 | Cerebral Palsy | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0007789 | Cerebral Palsy | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0007789 | Cerebral Palsy | MECR | 51102 | mitochondrial trans-2-enoyl-CoA reductase | Q9BV79 |
| C0007789 | Cerebral Palsy | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0007789 | Cerebral Palsy | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
