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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 |
|---|---|---|---|---|---|
| C0036572 | Seizures | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0036572 | Seizures | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0036572 | Seizures | CTSA | 5476 | cathepsin A | P10619 |
| C0036572 | Seizures | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C0036572 | Seizures | PSAP | 5660 | prosaposin | P07602 |
| C0036572 | Seizures | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0036572 | Seizures | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0036572 | Seizures | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C0036572 | Seizures | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0036572 | Seizures | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C0036572 | Seizures | OGA | 10724 | O-GlcNAcase | O60502 |
| C0036572 | Seizures | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0036572 | Seizures | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0036572 | Seizures | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0036572 | Seizures | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0036572 | Seizures | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0036572 | Seizures | GLYCTK | 132158 | glycerate kinase | Q8IVS8 |
| C0036572 | Seizures | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0036572 | Seizures | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0036572 | Seizures | STT3B | 201595 | STT3 oligosaccharyltransferase complex catalytic subunit B | Q8TCJ2 |
| C0036572 | Seizures | FCSK | 197258 | fucose kinase | Q8N0W3 |
| C0036572 | Seizures | ENO2 | 2026 | enolase 2 | P09104 |
| C0036572 | Seizures | FBP1 | 2203 | fructose-bisphosphatase 1 | P09467 |
| C0036572 | Seizures | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0036572 | Seizures | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
