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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 |
|---|---|---|---|---|---|
| C0086543 | Cataract | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0086543 | Cataract | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0086543 | Cataract | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0086543 | Cataract | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0086543 | Cataract | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0086543 | Cataract | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0086543 | Cataract | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0086543 | Cataract | GLA | 2717 | galactosidase alpha | P06280 |
| C0086543 | Cataract | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0086543 | Cataract | ARSA | 410 | arylsulfatase A | P15289 |
| C0086543 | Cataract | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C0086543 | Cataract | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0086543 | Cataract | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0086543 | Cataract | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0086543 | Cataract | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0086543 | Cataract | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0086543 | Cataract | CALR3 | 125972 | calreticulin 3 | Q96L12 |
| C0086543 | Cataract | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0086543 | Cataract | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0086543 | Cataract | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0086543 | Cataract | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0086543 | Cataract | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0086543 | Cataract | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0086543 | Cataract | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0086543 | Cataract | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
