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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 | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0036572 | Seizures | GCSH | 2653 | glycine cleavage system protein H | P23434 |
| C0036572 | Seizures | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0036572 | Seizures | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C0036572 | Seizures | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
| C0036572 | Seizures | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0036572 | Seizures | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0036572 | Seizures | AGRN | 375790 | agrin | O00468 |
| C0036572 | Seizures | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0036572 | Seizures | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0036572 | Seizures | LGALS3 | 3958 | galectin 3 | P17931 |
| C0036572 | Seizures | STS | 412 | steroid sulfatase | P08842 |
| C0036572 | Seizures | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0036572 | Seizures | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0036572 | Seizures | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0036572 | Seizures | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0036572 | Seizures | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0036572 | Seizures | PCCB | 5096 | propionyl-CoA carboxylase subunit beta | P05166 |
| C0036572 | Seizures | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
| C0036572 | Seizures | ISYNA1 | 51477 | inositol-3-phosphate synthase 1 | Q9NPH2 |
| C0036572 | Seizures | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0036572 | Seizures | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C0036572 | Seizures | TMED9 | 54732 | transmembrane p24 trafficking protein 9 | Q9BVK6 |
| C0036572 | Seizures | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0036572 | Seizures | PLD2 | 5338 | phospholipase D2 | O14939 |
