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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 |
|---|---|---|---|---|---|
| C0029124 | Optic Atrophy | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0029124 | Optic Atrophy | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C0029124 | Optic Atrophy | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0029124 | Optic Atrophy | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0029124 | Optic Atrophy | GALC | 2581 | galactosylceramidase | P54803 |
| C0029124 | Optic Atrophy | GLA | 2717 | galactosidase alpha | P06280 |
| C0029124 | Optic Atrophy | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0029124 | Optic Atrophy | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0029124 | Optic Atrophy | ARSA | 410 | arylsulfatase A | P15289 |
| C0029124 | Optic Atrophy | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C0029124 | Optic Atrophy | PSAP | 5660 | prosaposin | P07602 |
| C0029124 | Optic Atrophy | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0029124 | Optic Atrophy | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C0029124 | Optic Atrophy | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0029124 | Optic Atrophy | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0029124 | Optic Atrophy | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0029124 | Optic Atrophy | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0029124 | Optic Atrophy | FCSK | 197258 | fucose kinase | Q8N0W3 |
| C0029124 | Optic Atrophy | STT3B | 201595 | STT3 oligosaccharyltransferase complex catalytic subunit B | Q8TCJ2 |
| C0029124 | Optic Atrophy | ENO2 | 2026 | enolase 2 | P09104 |
| C0029124 | Optic Atrophy | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0029124 | Optic Atrophy | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0029124 | Optic Atrophy | ACO2 | 50 | aconitase 2 | Q99798 |
| C0029124 | Optic Atrophy | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0029124 | Optic Atrophy | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
