| Disease ID | Disease name | Source of annotation with TPM1 | 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 |
| MicroRNAs in cancer | hsa05206 | 5.38 |
| Cardiac muscle contraction | hsa04260 | 6.34 |
| Adrenergic signaling in cardiomyocytes | hsa04261 | 5.44 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Muscle contraction | R-HSA-397014 | 6.96 |
| Striated Muscle Contraction | R-HSA-390522 | 7.81 |
| Smooth Muscle Contraction | R-HSA-445355 | 8.23 |
| 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 |
| actin binding | GO:0003779 | 3.74 |
| structural constituent of muscle | GO:0008307 | 6.02 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |