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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 |
|---|---|---|---|---|---|
| C0270824 | Visual seizure | CAT | 847 | catalase | P04040 |
| C0270824 | Visual seizure | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0270824 | Visual seizure | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0270824 | Visual seizure | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0270824 | Visual seizure | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0270824 | Visual seizure | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0270824 | Visual seizure | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0270824 | Visual seizure | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0270844 | Tonic Seizures | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0270844 | Tonic Seizures | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0270844 | Tonic Seizures | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| 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 |
| C0270850 | Idiopathic generalized epilepsy | ME2 | 4200 | malic enzyme 2 | P23368 |
| C0270850 | Idiopathic generalized epilepsy | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0270850 | Idiopathic generalized epilepsy | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0270853 | Juvenile Myoclonic Epilepsy | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0270853 | Juvenile Myoclonic Epilepsy | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
