| Disease ID | Disease name | Source of annotation with DES | 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 |
| PS601419 | MYOFIBRILLAR MYOPATHY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 7 | CRYAB, FLNC, DES, MYOT, LDB3, DNAJB6, BAG3 |
| 181400 | SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | DES |
| PS253600 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE | ClinVar, OMIM | link to OMIM | 24 | SGCA, TCAP, SGCB, ISPD, BVES, POMK, POMT2, TRAPPC11, SGCD, TTN, FKTN, POMT1, TRIM32, LIMS2, ANO5, CAPN3, DYSF, FKRP, POMGNT1, SGCG, DAG1, GMPPB, DES, PLEC |
| 142340 | DIAPHRAGMATIC HERNIA, CONGENITAL | ClinVar | link to OMIM | 4 | DES, FREM1, MET, PAX3 |
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 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Muscle contraction | R-HSA-397014 | 6.96 |
| Striated Muscle Contraction | R-HSA-390522 | 7.81 |
| GO term | GO ID | GO IC |
|---|---|---|
| structural constituent of cytoskeleton | GO:0005200 | 5.12 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| structural molecule activity | GO:0005198 | 3.1 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| identical protein binding | GO:0042802 | 2.63 |