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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 |
|---|---|---|---|---|---|
| C0014544 | Epilepsy | LPL | 4023 | lipoprotein lipase | P06858 |
| C0014544 | Epilepsy | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0014544 | Epilepsy | ME2 | 4200 | malic enzyme 2 | P23368 |
| C0014544 | Epilepsy | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0014544 | Epilepsy | ISYNA1 | 51477 | inositol-3-phosphate synthase 1 | Q9NPH2 |
| C0014544 | Epilepsy | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0014544 | Epilepsy | PLCG1 | 5335 | phospholipase C gamma 1 | P19174 |
| C0014544 | Epilepsy | PRNP | 5621 | prion protein | P04156 |
| C0014544 | Epilepsy | RGMA | 56963 | repulsive guidance molecule BMP co-receptor a | Q96B86 |
| C0014544 | Epilepsy | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0014544 | Epilepsy | ACSM3 | 6296 | acyl-CoA synthetase medium chain family member 3 | Q53FZ2 |
| C0014544 | Epilepsy | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0014544 | Epilepsy | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0014544 | Epilepsy | LMAN2L | 81562 | lectin, mannose binding 2 like | Q9H0V9 |
| C0014544 | Epilepsy | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0014544 | Epilepsy | RECK | 8434 | reversion inducing cysteine rich protein with kazal motifs | O95980 |
| C0014544 | Epilepsy | CAT | 847 | catalase | P04040 |
| C0014544 | Epilepsy | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0014544 | Epilepsy | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0014544 | Epilepsy | SEMA7A | 8482 | semaphorin 7A (John Milton Hagen blood group) | O75326 |
| C0014544 | Epilepsy | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0014544 | Epilepsy | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0014544 | Epilepsy | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0014544 | Epilepsy | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0014544 | Epilepsy | PTGES | 9536 | prostaglandin E synthase | O14684 |
