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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 |
|---|---|---|---|---|---|
| C0025958 | Microcephaly | PIGS | 94005 | phosphatidylinositol glycan anchor biosynthesis class S | Q96S52 |
| C0025958 | Microcephaly | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0025958 | Microcephaly | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0025958 | Microcephaly | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0025958 | Microcephaly | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0025958 | Microcephaly | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0025958 | Microcephaly | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0025958 | Microcephaly | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0025958 | Microcephaly | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C0025958 | Microcephaly | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0025958 | Microcephaly | TUSC3 | 7991 | tumor suppressor candidate 3 | Q13454 |
| C0025958 | Microcephaly | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0025958 | Microcephaly | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C0025958 | Microcephaly | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0025958 | Microcephaly | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0025958 | Microcephaly | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0025958 | Microcephaly | GLYCTK | 132158 | glycerate kinase | Q8IVS8 |
| C0025958 | Microcephaly | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0025958 | Microcephaly | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0025958 | Microcephaly | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0025958 | Microcephaly | STT3B | 201595 | STT3 oligosaccharyltransferase complex catalytic subunit B | Q8TCJ2 |
| C0025958 | Microcephaly | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0025958 | Microcephaly | STT3A | 3703 | STT3 oligosaccharyltransferase complex catalytic subunit A | P46977 |
| C0025958 | Microcephaly | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0025958 | Microcephaly | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
