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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 |
|---|---|---|---|---|---|
| C0949857 | Mitochondrial Respiratory Chain Deficiencies | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C0949857 | Mitochondrial Respiratory Chain Deficiencies | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0949857 | Mitochondrial Respiratory Chain Deficiencies | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0026266 | Mitral Valve Insufficiency | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0026266 | Mitral Valve Insufficiency | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0026266 | Mitral Valve Insufficiency | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0026266 | Mitral Valve Insufficiency | GLA | 2717 | galactosidase alpha | P06280 |
| C0026266 | Mitral Valve Insufficiency | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0026266 | Mitral Valve Insufficiency | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0026266 | Mitral Valve Insufficiency | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0026266 | Mitral Valve Insufficiency | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0026266 | Mitral Valve Insufficiency | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0026267 | Mitral Valve Prolapse Syndrome | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0026267 | Mitral Valve Prolapse Syndrome | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0026267 | Mitral Valve Prolapse Syndrome | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0026267 | Mitral Valve Prolapse Syndrome | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0026267 | Mitral Valve Prolapse Syndrome | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0026267 | Mitral Valve Prolapse Syndrome | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0026267 | Mitral Valve Prolapse Syndrome | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0026267 | Mitral Valve Prolapse Syndrome | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0026267 | Mitral Valve Prolapse Syndrome | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0026267 | Mitral Valve Prolapse Syndrome | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0026267 | Mitral Valve Prolapse Syndrome | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0026269 | Mitral Valve Stenosis | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0026269 | Mitral Valve Stenosis | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
