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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 | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0038379 | Strabismus | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0038379 | Strabismus | ALG11 | 440138 | ALG11 alpha-1,2-mannosyltransferase | Q2TAA5 |
| C0038379 | Strabismus | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C0038379 | Strabismus | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0038379 | Strabismus | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0038379 | Strabismus | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0038379 | Strabismus | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0038379 | Strabismus | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0038379 | Strabismus | DDOST | 1650 | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | P39656 |
| C0038379 | Strabismus | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0038379 | Strabismus | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0038379 | Strabismus | GALC | 2581 | galactosylceramidase | P54803 |
| C0038379 | Strabismus | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0038379 | Strabismus | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| 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 |
