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 | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
C0036572 | Seizures | ARSA | 410 | arylsulfatase A | P15289 |
C0036572 | Seizures | MPI | 4351 | mannose phosphate isomerase | P34949 |
C0036572 | Seizures | MANBA | 4126 | mannosidase beta | O00462 |
C0036572 | Seizures | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
C0036572 | Seizures | NEU1 | 4758 | neuraminidase 1 | Q99519 |
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 |
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Last updated: August 19, 2024