| Gene | Associated with NEMALINE MYOPATHY in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
|---|---|---|---|---|---|
| TNNT1 | ClinVar, OMIM | HGNC link | 19q13.42 | 1 | PS161800 |
| ACTA1 | ClinVar, OMIM, HUMSAVAR | HGNC link | 1q42.13 | 3 | 255310, PS161800, 616852 |
| TPM3 | ClinVar, OMIM, HUMSAVAR | HGNC link | 1q21.3 | 2 | 255310, PS161800 |
| NEB | ClinVar, OMIM | HGNC link | 2q23.3 | 2 | 236750, PS161800 |
| TPM2 | ClinVar, OMIM, HUMSAVAR | HGNC link | 9p13.3 | 3 | 601680, PS161800, 108120 |
| KLHL41 | ClinVar, OMIM, HUMSAVAR | HGNC link | 2q31.1 | 1 | PS161800 |
| KLHL40 | ClinVar, OMIM, HUMSAVAR | HGNC link | 3p22.1 | 1 | PS161800 |
| KBTBD13 | ClinVar, OMIM, HUMSAVAR | HGNC link | 15q22.31 | 1 | PS161800 |
| CFL2 | ClinVar, OMIM, HUMSAVAR | HGNC link | 14q13.1 | 1 | PS161800 |
| LMOD3 | ClinVar, OMIM, HUMSAVAR | HGNC link | 3p14.1 | 1 | PS161800 |
Download the disease annotation in CSV format
| regulated gene | associated to this disease | # TFs | TFs | # TFs associated with this disease | TFs associated with this disease |
|---|---|---|---|---|---|
| ACTA1 | YES | 4 | AR, FOS, JUN, KLF3 | 0 |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
| Gene1 | Gene2 | Direct Interaction | Number of shared interactors | Shared genes in interaction |
|---|---|---|---|---|
| TPM3 | TPM2 | Yes | 2 | TPM4, TPM1 |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
| KEGG term | KEGG term ID | IC | Number of genes with the same term | Genes |
|---|---|---|---|---|
| Hypertrophic cardiomyopathy (HCM) | hsa05410 | 6.21 | 2 | TPM2, TPM3 |
| Cardiac muscle contraction | hsa04260 | 6.34 | 2 | TPM2, TPM3 |
| Dilated cardiomyopathy | hsa05414 | 6.08 | 2 | TPM2, TPM3 |
| Adrenergic signaling in cardiomyocytes | hsa04261 | 5.44 | 2 | TPM2, TPM3 |
| Term | New enriched term | IC | P value | Genes |
|---|---|---|---|---|
| Hypertrophic cardiomyopathy (HCM) (hsa05410) | - | 6.21 | 0.012 | TPM2, TPM3 |
| Cardiac muscle contraction (hsa04260) | - | 6.34 | 0.01 | TPM2, TPM3 |
| Dilated cardiomyopathy (hsa05414) | - | 6.08 | 0.009 | NEB, TPM2, TPM3 |
| Adrenergic signaling in cardiomyocytes (hsa04261) | - | 5.44 | 0.034 | TPM2, TPM3 |
| REACTOME term | REACTOME term ID | IC | Number of genes with the same term | Genes |
|---|---|---|---|---|
| Muscle contraction | R-HSA-397014 | 6.96 | 5 | TPM2, NEB, ACTA1, TPM3, TNNT1 |
| Striated Muscle Contraction | R-HSA-390522 | 7.81 | 5 | TPM2, NEB, ACTA1, TPM3, TNNT1 |
| Smooth Muscle Contraction | R-HSA-445355 | 8.23 | 2 | TPM2, TPM3 |
| Term | New enriched term | IC | P value | Genes |
|---|---|---|---|---|
| Muscle contraction (R-HSA-397014) | - | 6.96 | 0.0 | TPM2, NEB, ACTA1, TPM3, TNNT1 |
| Striated Muscle Contraction (R-HSA-390522) | - | 7.81 | 0.0 | TPM2, NEB, ACTA1, TPM3, TNNT1 |
| Smooth Muscle Contraction (R-HSA-445355) | - | 8.23 | 0.015 | TPM2, TPM3 |
| GO | IC | Number of genes with the same GO | Genes |
|---|---|---|---|
| binding (GO:0005488) | 0.18 | 8 | CFL2, LMOD3, TNNT1, ACTA1, KLHL41, TPM3, NEB, TPM2 |
| protein binding (GO:0005515) | 0.46 | 8 | CFL2, LMOD3, TNNT1, ACTA1, KLHL41, TPM3, NEB, TPM2 |
| cytoskeletal protein binding (GO:0008092) | 3.02 | 7 | CFL2, LMOD3, TNNT1, ACTA1, TPM3, NEB, TPM2 |
| actin binding (GO:0003779) | 3.74 | 5 | LMOD3, TPM2, NEB, CFL2, TPM3 |
| ubiquitin-like protein transferase activity (GO:0019787) | 3.69 | 3 | KLHL41, KBTBD13, KLHL40 |
| catalytic activity (GO:0003824) | 1.05 | 3 | KLHL41, KBTBD13, KLHL40 |
| transferase activity (GO:0016740) | 1.95 | 3 | KLHL41, KBTBD13, KLHL40 |
| ubiquitin-protein transferase activity (GO:0004842) | 3.73 | 3 | KLHL41, KBTBD13, KLHL40 |
| structural molecule activity (GO:0005198) | 3.1 | 3 | NEB, ACTA1, TPM2 |
| tropomyosin binding (GO:0005523) | 7.1 | 2 | LMOD3, TNNT1 |
| structural constituent of muscle (GO:0008307) | 6.02 | 2 | NEB, TPM2 |
| Term | New enriched term | IC | P value | Genes |
|---|---|---|---|---|
| actin binding (GO:0003779) | - | 3.74 | 0.0 | TPM2, NEB, ACTA1, CFL2, TPM3 |
| tropomyosin binding (GO:0005523) | - | 7.1 | 0.0 | NEB, LMOD3, TNNT1 |
| structural constituent of muscle (GO:0008307) | - | 6.02 | 0.0 | NEB, CFL2, TPM2 |
| cytoskeletal protein binding (GO:0008092) | - | 3.02 | 0.0 | CFL2, LMOD3, TNNT1, ACTA1, TPM3, NEB, TPM2 |
| Term | New enriched term | IC | P value | Genes |
|---|---|---|---|---|
| actin filament bundle (GO:0032432) | - | 5.74 | 0.015 | ACTA1, TPM3 |
| myofilament (GO:0036379) | - | 7.16 | 0.003 | NEB, ACTA1 |
| actin cytoskeleton (GO:0015629) | - | 4.39 | 0.005 | NEB, ACTA1, CFL2 |
| intracellular non-membrane-bounded organelle (GO:0043232) | - | 1.76 | 0.027 | CFL2, LMOD3, ACTA1, KLHL41, TPM3, NEB |
| stress fiber (GO:0001725) | - | 5.81 | 0.013 | ACTA1, TPM3 |
| cytoskeleton (GO:0005856) | - | 2.55 | 0.0 | CFL2, LMOD3, TNNT1, ACTA1, KLHL41, TPM3, NEB, TPM2 |
| I band (GO:0031674) | - | 6.67 | 0.036 | CFL2, ACTA1 |
| non-membrane-bounded organelle (GO:0043228) | - | 1.76 | 0.027 | CFL2, LMOD3, ACTA1, KLHL41, TPM3, NEB |
| striated muscle thin filament (GO:0005865) | - | 7.4 | 0.002 | NEB, ACTA1 |
| actomyosin (GO:0042641) | - | 5.66 | 0.019 | ACTA1, TPM3 |
| muscle thin filament tropomyosin (GO:0005862) | - | 8.42 | 0.0 | TPM2, TPM3 |
| contractile fiber part (GO:0044449) | - | 4.53 | 0.0 | CFL2, KLHL40, TNNT1, ACTA1, KLHL41, TPM3, NEB, TPM2 |