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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 |
|---|---|---|---|---|---|
| C0751495 | Seizures, Focal | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0751495 | Seizures, Focal | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0751495 | Seizures, Focal | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0751495 | Seizures, Focal | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0751495 | Seizures, Focal | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0751495 | Seizures, Focal | ME1 | 4199 | malic enzyme 1 | P48163 |
| C0751495 | Seizures, Focal | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0751495 | Seizures, Focal | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0751495 | Seizures, Focal | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0036572 | Seizures | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0036572 | Seizures | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0036572 | Seizures | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C0036572 | Seizures | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C0036572 | Seizures | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0036572 | Seizures | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0036572 | Seizures | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0036572 | Seizures | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0036572 | Seizures | FKTN | 2218 | fukutin | O75072 |
| C0036572 | Seizures | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0036572 | Seizures | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0036572 | Seizures | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0036572 | Seizures | FUT8 | 2530 | fucosyltransferase 8 | Q9BYC5 |
| C0036572 | Seizures | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0036572 | Seizures | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0036572 | Seizures | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
