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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 |
|---|---|---|---|---|---|
| C0494475 | Tonic - clonic seizures | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0494475 | Tonic - clonic seizures | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C0494475 | Tonic - clonic seizures | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C0494475 | Tonic - clonic seizures | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0494475 | Tonic - clonic seizures | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0494475 | Tonic - clonic seizures | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0494475 | Tonic - clonic seizures | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0494475 | Tonic - clonic seizures | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
| C0494475 | Tonic - clonic seizures | CAT | 847 | catalase | P04040 |
| C0494475 | Tonic - clonic seizures | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0494475 | Tonic - clonic seizures | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0494475 | Tonic - clonic seizures | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0494475 | Tonic - clonic seizures | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0494475 | Tonic - clonic seizures | GCK | 2645 | glucokinase | P35557 |
| C0494475 | Tonic - clonic seizures | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0494475 | Tonic - clonic seizures | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0494475 | Tonic - clonic seizures | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0494475 | Tonic - clonic seizures | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0494475 | Tonic - clonic seizures | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0494475 | Tonic - clonic seizures | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0494475 | Tonic - clonic seizures | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0494475 | Tonic - clonic seizures | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0494475 | Tonic - clonic seizures | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0494475 | Tonic - clonic seizures | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0494475 | Tonic - clonic seizures | CNTN2 | 6900 | contactin 2 | Q02246 |
