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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 |
|---|---|---|---|---|---|
| C0231528 | Myalgia | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0231528 | Myalgia | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0231528 | Myalgia | ACADL | 33 | acyl-CoA dehydrogenase long chain | P28330 |
| C0231528 | Myalgia | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0026896 | Myasthenia Gravis | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0026896 | Myasthenia Gravis | CDS1 | 1040 | CDP-diacylglycerol synthase 1 | Q92903 |
| C0026896 | Myasthenia Gravis | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0026896 | Myasthenia Gravis | LGALS8 | 3964 | galectin 8 | O00214 |
| C0026896 | Myasthenia Gravis | CDIPT | 10423 | CDP-diacylglycerol--inositol 3-phosphatidyltransferase | O14735 |
| C0026896 | Myasthenia Gravis | CNTFR | 1271 | ciliary neurotrophic factor receptor | P26992 |
| C0026896 | Myasthenia Gravis | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0026896 | Myasthenia Gravis | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0026896 | Myasthenia Gravis | LGALS1 | 3956 | galectin 1 | P09382 |
| C0026896 | Myasthenia Gravis | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0026896 | Myasthenia Gravis | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0026896 | Myasthenia Gravis | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0026896 | Myasthenia Gravis | CLC | 1178 | Charcot-Leyden crystal galectin | Q05315 |
| C0026896 | Myasthenia Gravis | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0751340 | Myasthenia Gravis, Ocular | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0751882 | Myasthenic Syndromes, Congenital | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0751882 | Myasthenic Syndromes, Congenital | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0751882 | Myasthenic Syndromes, Congenital | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0751882 | Myasthenic Syndromes, Congenital | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0751882 | Myasthenic Syndromes, Congenital | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0751882 | Myasthenic Syndromes, Congenital | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
