| Disease ID | Disease name | Source of annotation with MYH6 | 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 |
| PS108800 | ATRIAL SEPTAL DEFECT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 8 | GATA4, TBX20, NKX2-5, CITED2, GATA6, ACTC1, MYH6, TLL1 |
| 234750 | HEART, MALFORMATION OF | ClinVar | link to OMIM | 3 | MYH6, TBX5, NOTCH1 |
| 140500 | HEART, MALFORMATION OF | ClinVar | link to OMIM | 3 | MYH6, TBX5, NOTCH1 |
| 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 |
| PS608567 | SICK SINUS SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | MYH6, SCN5A, HCN4 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Cardiac muscle contraction | hsa04260 | 6.34 |
| Tight junction | hsa04530 | 5.53 |
| Hypertrophic cardiomyopathy (HCM) | hsa05410 | 6.21 |
| Thyroid hormone signaling pathway | hsa04919 | 5.82 |
| Dilated cardiomyopathy | hsa05414 | 6.08 |
| Adrenergic signaling in cardiomyocytes | hsa04261 | 5.44 |
| Viral myocarditis | hsa05416 | 6.45 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Membrane Trafficking | R-HSA-199991 | 5.26 |
| Muscle contraction | R-HSA-397014 | 6.96 |
| Striated Muscle Contraction | R-HSA-390522 | 7.81 |
| Translocation of GLUT4 to the plasma membrane | R-HSA-1445148 | 6.77 |
| Vesicle-mediated transport | R-HSA-5653656 | 4.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| phosphatase activity | GO:0016791 | 4.11 |
| myosin phosphatase activity | GO:0017018 | 8.35 |
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| enzyme binding | GO:0019899 | 2.27 |
| protein serine/threonine phosphatase activity | GO:0004722 | 5.58 |
| phosphoric ester hydrolase activity | GO:0042578 | 3.82 |
| binding | GO:0005488 | 0.18 |
| ATPase activity | GO:0016887 | 3.65 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| nucleoside binding | GO:0001882 | 2.21 |
| microfilament motor activity | GO:0000146 | 6.65 |
| kinase binding | GO:0019900 | 3.32 |
| ATPase activity, coupled | GO:0042623 | 3.97 |
| nucleotide binding | GO:0000166 | 1.96 |
| actin binding | GO:0003779 | 3.74 |
| purine nucleoside binding | GO:0001883 | 2.22 |
| ribonucleoside binding | GO:0032549 | 2.22 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| motor activity | GO:0003774 | 4.81 |
| ATP binding | GO:0005524 | 2.43 |
| hydrolase activity | GO:0016787 | 1.9 |
| nucleoside-triphosphatase activity | GO:0017111 | 3.09 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| protein kinase binding | GO:0019901 | 3.44 |
| catalytic activity | GO:0003824 | 1.05 |
| actin-dependent ATPase activity | GO:0030898 | 7.17 |
| small molecule binding | GO:0036094 | 1.89 |
| hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | GO:0016818 | 3.03 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| adenyl nucleotide binding | GO:0030554 | 2.4 |
| hydrolase activity, acting on acid anhydrides | GO:0016817 | 3.03 |
| phosphoprotein phosphatase activity | GO:0004721 | 4.55 |
| pyrophosphatase activity | GO:0016462 | 3.04 |
| adenyl ribonucleotide binding | GO:0032559 | 2.41 |
| calmodulin binding | GO:0005516 | 4.55 |
| protein binding | GO:0005515 | 0.46 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| ribonucleotide binding | GO:0032553 | 2.19 |