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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 |
|---|---|---|---|---|---|
| C0270844 | Tonic Seizures | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0270844 | Tonic Seizures | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0270844 | Tonic Seizures | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0270844 | Tonic Seizures | CAT | 847 | catalase | P04040 |
| C0270844 | Tonic Seizures | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0270844 | Tonic Seizures | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0270844 | Tonic Seizures | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0270844 | Tonic Seizures | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0270844 | Tonic Seizures | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0494475 | Tonic - clonic seizures | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0494475 | Tonic - clonic seizures | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C0494475 | Tonic - clonic seizures | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0494475 | Tonic - clonic seizures | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0494475 | Tonic - clonic seizures | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C0494475 | Tonic - clonic seizures | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0494475 | Tonic - clonic seizures | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0494475 | Tonic - clonic seizures | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C0494475 | Tonic - clonic seizures | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0494475 | Tonic - clonic seizures | MANBA | 4126 | mannosidase beta | O00462 |
| C0494475 | Tonic - clonic seizures | PSAP | 5660 | prosaposin | P07602 |
| C0494475 | Tonic - clonic seizures | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0494475 | Tonic - clonic seizures | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0494475 | Tonic - clonic seizures | GYS1 | 2997 | glycogen synthase 1 | P13807 |
| C0494475 | Tonic - clonic seizures | ACADM | 34 | acyl-CoA dehydrogenase medium chain | P11310 |
| C0494475 | Tonic - clonic seizures | PGAP3 | 93210 | post-GPI attachment to proteins phospholipase 3 | Q96FM1 |
