| Disease ID | Disease name | Source of annotation with TPM2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS161800 | NEMALINE MYOPATHY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 10 | CFL2, TPM3, KLHL41, NEB, ACTA1, LMOD3, TNNT1, KBTBD13, TPM2, KLHL40 |
| 108120 | ARTHROGRYPOSIS, DISTAL, TYPE 1A | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | TPM2 |
| 601680 | ARTHROGRYPOSIS, DISTAL, TYPE 2B | ClinVar, OMIM, HUMSAVAR | link to OMIM | 4 | MYH3, TPM2, TNNI2, TNNT3 |
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 |
| Smooth Muscle Contraction | R-HSA-445355 | 8.23 |
| GO term | GO ID | GO IC |
|---|---|---|
| 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 |