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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 |
|---|---|---|---|---|---|
| C0030442 | Progressive bulbar palsy | GAL3ST1 | 9514 | galactose-3-O-sulfotransferase 1 | Q99999 |
| C1844678 | Progressive hearing loss stapes fixation | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0268312 | Progressive intrahepatic cholestasis (disorder) | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0268312 | Progressive intrahepatic cholestasis (disorder) | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0268312 | Progressive intrahepatic cholestasis (disorder) | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0432215 | Progressive pseudorheumatoid dysplasia | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0432215 | Progressive pseudorheumatoid dysplasia | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0432215 | Progressive pseudorheumatoid dysplasia | FADS1 | 3992 | fatty acid desaturase 1 | O60427 |
| C0432215 | Progressive pseudorheumatoid dysplasia | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C0038868 | Progressive supranuclear palsy | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0038868 | Progressive supranuclear palsy | OGA | 10724 | O-GlcNAcase | O60502 |
| C0038868 | Progressive supranuclear palsy | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0038868 | Progressive supranuclear palsy | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0038868 | Progressive supranuclear palsy | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0038868 | Progressive supranuclear palsy | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0038868 | Progressive supranuclear palsy | PIK3C2G | 5288 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma | O75747 |
| C0038868 | Progressive supranuclear palsy | PLCG2 | 5336 | phospholipase C gamma 2 | P16885 |
| C0038868 | Progressive supranuclear palsy | PRNP | 5621 | prion protein | P04156 |
| C0038868 | Progressive supranuclear palsy | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0038868 | Progressive supranuclear palsy | GLDC | 2731 | glycine decarboxylase | P23378 |
| C0038868 | Progressive supranuclear palsy | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0038868 | Progressive supranuclear palsy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0038868 | Progressive supranuclear palsy | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0033375 | Prolactinoma | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0033375 | Prolactinoma | MACROD1 | 28992 | mono-ADP ribosylhydrolase 1 | Q9BQ69 |
