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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 |
|---|---|---|---|---|---|
| C0038379 | Strabismus | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0038379 | Strabismus | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0038379 | Strabismus | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0038379 | Strabismus | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0038379 | Strabismus | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0038379 | Strabismus | FCSK | 197258 | fucose kinase | Q8N0W3 |
| C0038379 | Strabismus | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0038379 | Strabismus | ACO2 | 50 | aconitase 2 | Q99798 |
| C0038379 | Strabismus | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0038379 | Strabismus | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0038379 | Strabismus | ADPRS | 54936 | ADP-ribosylserine hydrolase | Q9NX46 |
| C0038379 | Strabismus | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0038379 | Strabismus | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0038379 | Strabismus | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0038379 | Strabismus | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0038379 | Strabismus | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C0038379 | Strabismus | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0038379 | Strabismus | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0038379 | Strabismus | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C0038379 | Strabismus | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0038379 | Strabismus | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0038379 | Strabismus | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0038379 | Strabismus | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0038379 | Strabismus | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0038379 | Strabismus | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
