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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 |
|---|---|---|---|---|---|
| C0026848 | Myopathy | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0026848 | Myopathy | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0026848 | Myopathy | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0026848 | Myopathy | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0026848 | Myopathy | LPIN1 | 23175 | lipin 1 | Q14693 |
| C0026848 | Myopathy | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0026848 | Myopathy | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0026848 | Myopathy | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0026848 | Myopathy | ACADS | 35 | acyl-CoA dehydrogenase short chain | P16219 |
| C0026848 | Myopathy | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0026848 | Myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0026848 | Myopathy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0026848 | Myopathy | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0026848 | Myopathy | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0026848 | Myopathy | SFTPC | 6440 | surfactant protein C | P11686 |
| C0026848 | Myopathy | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0026848 | Myopathy | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0026848 | Myopathy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C4551952 | Myopathy, Centronuclear, 1 | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C4551952 | Myopathy, Centronuclear, 1 | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C1834558 | Myopathy, Centronuclear, Autosomal Dominant | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C1834558 | Myopathy, Centronuclear, Autosomal Dominant | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C2675527 | Myopathy, Congenital, Compton-North | CNTN1 | 1272 | contactin 1 | Q12860 |
| C0027092 | Myopia | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0027092 | Myopia | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
