| Disease ID | Disease name | Source of annotation with MYL2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS192600 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC | ClinVar, OMIM, HUMSAVAR | link to OMIM | 25 | CALR3, JPH2, VCL, TNNC1, LDB3, ACTC1, CSRP3, MYLK2, TTN, MYH7, NEXN, MYOZ2, TCAP, ACTN2, TNNT2, MYL2, MYBPC3, PLN, MYH6, TPM1, TNNI3, MYL3, PRKAG2, MYPN, CAV3 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Dilated cardiomyopathy | hsa05414 | 6.08 |
| Tight junction | hsa04530 | 5.53 |
| Leukocyte transendothelial migration | hsa04670 | 5.74 |
| Focal adhesion | hsa04510 | 4.92 |
| Hypertrophic cardiomyopathy (HCM) | hsa05410 | 6.21 |
| Cardiac muscle contraction | hsa04260 | 6.34 |
| Adrenergic signaling in cardiomyocytes | hsa04261 | 5.44 |
| Regulation of actin cytoskeleton | hsa04810 | 4.9 |
| 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 |
|---|---|---|
| myosin heavy chain binding | GO:0032036 | 7.25 |
| cation binding | GO:0043169 | 1.4 |
| metal ion binding | GO:0046872 | 1.41 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| actin monomer binding | GO:0003785 | 6.48 |
| myosin binding | GO:0017022 | 5.66 |
| ion binding | GO:0043167 | 1.36 |
| actin binding | GO:0003779 | 3.74 |
| structural constituent of muscle | GO:0008307 | 6.02 |
| calcium ion binding | GO:0005509 | 3.17 |
| protein binding | GO:0005515 | 0.46 |
| structural molecule activity | GO:0005198 | 3.1 |
| binding | GO:0005488 | 0.18 |