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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 |
|---|---|---|---|---|---|
| C0036572 | Seizures | PLCG1 | 5335 | phospholipase C gamma 1 | P19174 |
| C0036572 | Seizures | PRNP | 5621 | prion protein | P04156 |
| C0036572 | Seizures | RGMA | 56963 | repulsive guidance molecule BMP co-receptor a | Q96B86 |
| C0036572 | Seizures | ACSM3 | 6296 | acyl-CoA synthetase medium chain family member 3 | Q53FZ2 |
| C0036572 | Seizures | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0036572 | Seizures | PSMD10 | 5716 | proteasome 26S subunit, non-ATPase 10 | O75832 |
| C0036572 | Seizures | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0036572 | Seizures | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C0036572 | Seizures | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0036572 | Seizures | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0036572 | Seizures | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0036572 | Seizures | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C0036572 | Seizures | SLC2A3 | 6515 | solute carrier family 2 member 3 | P11169 |
| C0036572 | Seizures | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0036572 | Seizures | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
| C0036572 | Seizures | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0036572 | Seizures | LMAN2L | 81562 | lectin, mannose binding 2 like | Q9H0V9 |
| C0036572 | Seizures | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0036572 | Seizures | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0036572 | Seizures | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0036572 | Seizures | CAT | 847 | catalase | P04040 |
| C0036572 | Seizures | PLA2G10 | 8399 | phospholipase A2 group X | O15496 |
| C0036572 | Seizures | SEMA7A | 8482 | semaphorin 7A (John Milton Hagen blood group) | O75326 |
| C0036572 | Seizures | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C0036572 | Seizures | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
