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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 |
|---|---|---|---|---|---|
| C1562113 | Fleck corneal dystrophy | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C1562113 | Fleck corneal dystrophy | PIKFYVE | 200576 | phosphoinositide kinase, FYVE-type zinc finger containing | Q9Y2I7 |
| C1562113 | Fleck corneal dystrophy | FOLR2 | 2350 | folate receptor beta | P14207 |
| C1562113 | Fleck corneal dystrophy | GCDH | 2639 | glutaryl-CoA dehydrogenase | Q92947 |
| C1562113 | Fleck corneal dystrophy | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1562113 | Fleck corneal dystrophy | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1562113 | Fleck corneal dystrophy | FCN2 | 2220 | ficolin 2 | Q15485 |
| C1562113 | Fleck corneal dystrophy | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1562113 | Fleck corneal dystrophy | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1561643 | Chronic Kidney Diseases | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C1561643 | Chronic Kidney Diseases | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C1561643 | Chronic Kidney Diseases | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C1561643 | Chronic Kidney Diseases | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1561643 | Chronic Kidney Diseases | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C1561643 | Chronic Kidney Diseases | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C1561643 | Chronic Kidney Diseases | DDOST | 1650 | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | P39656 |
| C1561643 | Chronic Kidney Diseases | GLA | 2717 | galactosidase alpha | P06280 |
| C1561643 | Chronic Kidney Diseases | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C1561643 | Chronic Kidney Diseases | ARSA | 410 | arylsulfatase A | P15289 |
| C1561643 | Chronic Kidney Diseases | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C1561643 | Chronic Kidney Diseases | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C1561643 | Chronic Kidney Diseases | MANBA | 4126 | mannosidase beta | O00462 |
| C1561643 | Chronic Kidney Diseases | OGA | 10724 | O-GlcNAcase | O60502 |
| C1561643 | Chronic Kidney Diseases | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C1561643 | Chronic Kidney Diseases | COMT | 1312 | catechol-O-methyltransferase | P21964 |
