Disease ID | Disease name | Source of annotation with DSC2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS107970 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 9 | TGFB3, DSP, TMEM43, DSC2, PKP2, CTNNA3, RYR2, DSG2, JUP |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Arrhythmogenic right ventricular cardiomyopathy (ARVC) | hsa05412 | 6.32 |
GO term | GO ID | GO IC |
---|---|---|
binding | GO:0005488 | 0.18 |
cation binding | GO:0043169 | 1.4 |
protein binding involved in cell adhesion | GO:0098631 | 6.91 |
protein binding involved in cell-cell adhesion | GO:0098632 | 7.34 |
ion binding | GO:0043167 | 1.36 |
calcium ion binding | GO:0005509 | 3.17 |
protein binding | GO:0005515 | 0.46 |
metal ion binding | GO:0046872 | 1.41 |
protein binding involved in heterotypic cell-cell adhesion | GO:0086080 | 7.54 |
cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication | GO:0086083 | 7.95 |