| Disease ID | Disease name | Source of annotation with TNNT2 | 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 |
| PS115210 | FAMILIAL RESTRICTIVE CARDIOMYOPATHY | ClinVar, OMIM | link to OMIM | 3 | TNNI3, MYPN, TNNT2 |
| 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 |
| 218040 | COSTELLO SYNDROME | ClinVar | link to OMIM | 2 | TNNT2, HRAS |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Hypertrophic cardiomyopathy (HCM) | hsa05410 | 6.21 |
| Dilated cardiomyopathy | hsa05414 | 6.08 |
| 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 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | GO:0016818 | 3.03 |
| ATPase activity | GO:0016887 | 3.65 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| protein binding, bridging | GO:0030674 | 4.68 |
| catalytic activity | GO:0003824 | 1.05 |
| nucleoside-triphosphatase activity | GO:0017111 | 3.09 |
| troponin I binding | GO:0031013 | 8.13 |
| hydrolase activity, acting on acid anhydrides | GO:0016817 | 3.03 |
| actin binding | GO:0003779 | 3.74 |
| pyrophosphatase activity | GO:0016462 | 3.04 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| troponin C binding | GO:0030172 | 8.64 |
| tropomyosin binding | GO:0005523 | 7.1 |
| binding, bridging | GO:0060090 | 4.57 |