| Disease ID | Disease name | Source of annotation with MYBPC3 | 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 |
| PS604169 | LEFT VENTRICULAR NONCOMPACTION | ClinVar, OMIM, HUMSAVAR | link to OMIM | 9 | TPM1, PRDM16, LDB3, MYH7, TNNT2, MYBPC3, ACTC1, DTNA, MIB1 |
| 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 |
| 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 |
|---|---|---|
| Hypertrophic cardiomyopathy (HCM) | hsa05410 | 6.21 |
| 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 |
|---|---|---|
| myosin heavy chain binding | GO:0032036 | 7.25 |
| titin binding | GO:0031432 | 7.25 |
| molecular function regulator | GO:0098772 | 2.51 |
| ATPase regulator activity | GO:0060590 | 6.34 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| cation binding | GO:0043169 | 1.4 |
| myosin binding | GO:0017022 | 5.66 |
| ion binding | GO:0043167 | 1.36 |
| actin binding | GO:0003779 | 3.74 |
| metal ion binding | GO:0046872 | 1.41 |
| structural constituent of muscle | GO:0008307 | 6.02 |
| enzyme activator activity | GO:0008047 | 3.56 |
| protein binding | GO:0005515 | 0.46 |
| ATPase activator activity | GO:0001671 | 6.91 |
| structural molecule activity | GO:0005198 | 3.1 |
| nucleoside-triphosphatase regulator activity | GO:0060589 | 3.92 |
| identical protein binding | GO:0042802 | 2.63 |
| binding | GO:0005488 | 0.18 |