Disease ID | Disease name | Source of annotation with DSG2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS115200 | DILATED CARDIOMYOPATHY | ClinVar, OMIM | link to OMIM | 36 | MYBPC3, VCL, PSEN2, PLN, LDB3, ACTC1, BAG3, RBM20, CSRP3, RAF1, MYH7, SGCD, TTN, FKTN, CRYAB, NEXN, SDHA, ABCC9, DSG2, ACTN2, TNNT2, GATAD1, EYA4, TNNC1, LAMA4, SCN5A, MYH6, DMD, TPM1, TNNI3, PRDM16, DES, LMNA, TMPO, MYPN, PSEN1 |
PS107970 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 9 | TGFB3, DSP, TMEM43, DSC2, PKP2, CTNNA3, RYR2, DSG2, JUP |
PS604772 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC | ClinVar | link to OMIM | 15 | DSP, MYBPC3, TPM1, SCN5A, DMPK, LMNA, CALM1, TRDN, RYR2, ANK2, TRPM4, KCNH2, LAMA4, CASQ2, DSG2 |
115000 | CARDIAC ARRHYTHMIA | ClinVar | link to OMIM | 25 | KCNE3, CACNB2, AKAP9, NPPA, KCNE1, SCN4B, CASQ2, KCNJ5, TANGO2, JUP, ANK2, KCNJ2, DSG2, NOS1AP, KCNJ8, LIG3, RYR2, CACNA1C, KCNE2, KCNH2, SCN5A, HCN4, SNTA1, SCN1B, KCNQ1 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Arrhythmogenic right ventricular cardiomyopathy (ARVC) | hsa05412 | 6.32 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Apoptotic cleavage of cellular proteins | R-HSA-111465 | 7.73 |
Apoptotic execution phase | R-HSA-75153 | 7.28 |
Apoptotic cleavage of cell adhesion proteins | R-HSA-351906 | 9.52 |
Programmed Cell Death | R-HSA-5357801 | 5.65 |
Apoptosis | R-HSA-109581 | 5.68 |
GO term | GO ID | GO IC |
---|---|---|
binding | GO:0005488 | 0.18 |
cation binding | GO:0043169 | 1.4 |
cell adhesion molecule binding | GO:0050839 | 4.5 |
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 |