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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 |
|---|---|---|---|---|---|
| C4048158 | Convulsions | CAT | 847 | catalase | P04040 |
| C4048158 | Convulsions | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C4048158 | Convulsions | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C4048158 | Convulsions | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C4048158 | Convulsions | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C4048158 | Convulsions | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C4048158 | Convulsions | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C4048158 | Convulsions | ME1 | 4199 | malic enzyme 1 | P48163 |
| C4048158 | Convulsions | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0751494 | Convulsive Seizures | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0751494 | Convulsive Seizures | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0751494 | Convulsive Seizures | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0751494 | Convulsive Seizures | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0751494 | Convulsive Seizures | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0751494 | Convulsive Seizures | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0751494 | Convulsive Seizures | PRNP | 5621 | prion protein | P04156 |
| C0751494 | Convulsive Seizures | ACSM3 | 6296 | acyl-CoA synthetase medium chain family member 3 | Q53FZ2 |
| C0751494 | Convulsive Seizures | CAT | 847 | catalase | P04040 |
| C0751494 | Convulsive Seizures | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0751494 | Convulsive Seizures | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0751494 | Convulsive Seizures | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0751494 | Convulsive Seizures | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0751494 | Convulsive Seizures | PRNP | 5621 | prion protein | F7VJQ1 |
| C0751494 | Convulsive Seizures | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0002875 | Cooley's anemia | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
