| Disease ID | Disease name | Source of annotation with DMD | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS115200 | DILATED CARDIOMYOPATHY | ClinVar, OMIM, HUMSAVAR | 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 |
| 300376 | MUSCULAR DYSTROPHY, BECKER TYPE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | DMD |
| 310200 | MUSCULAR DYSTROPHY, DUCHENNE TYPE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | DMD |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Hypertrophic cardiomyopathy (HCM) | hsa05410 | 6.21 |
| Arrhythmogenic right ventricular cardiomyopathy (ARVC) | hsa05412 | 6.32 |
| Dilated cardiomyopathy | hsa05414 | 6.08 |
| Viral myocarditis | hsa05416 | 6.45 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Muscle contraction | R-HSA-397014 | 6.96 |
| Non-integrin membrane-ECM interactions | R-HSA-3000171 | 7.1 |
| Striated Muscle Contraction | R-HSA-390522 | 7.81 |
| Extracellular matrix organization | R-HSA-1474244 | 4.91 |
| GO term | GO ID | GO IC |
|---|---|---|
| glycoprotein binding | GO:0001948 | 5.11 |
| nitric-oxide synthase binding | GO:0050998 | 6.91 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| vinculin binding | GO:0017166 | 7.34 |
| transition metal ion binding | GO:0046914 | 2.48 |
| cation binding | GO:0043169 | 1.4 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| actin binding | GO:0003779 | 3.74 |
| structural constituent of muscle | GO:0008307 | 6.02 |
| enzyme binding | GO:0019899 | 2.27 |
| ion binding | GO:0043167 | 1.36 |
| dystroglycan binding | GO:0002162 | 7.54 |
| metal ion binding | GO:0046872 | 1.41 |
| myosin binding | GO:0017022 | 5.66 |
| structural constituent of cytoskeleton | GO:0005200 | 5.12 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| structural molecule activity | GO:0005198 | 3.1 |
| zinc ion binding | GO:0008270 | 2.66 |