Gene | Associated with LEFT VENTRICULAR NONCOMPACTION in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
---|---|---|---|---|---|
PRDM16 | ClinVar, OMIM, HUMSAVAR | HGNC link | 1p36.32 | 2 | PS604169, PS115200 |
TNNT2 | ClinVar, OMIM, HUMSAVAR | HGNC link | 1q32.1 | 5 | PS192600, PS604169, 218040, PS115200, PS115210 |
MYH7 | ClinVar, OMIM, HUMSAVAR | HGNC link | 14q11.2 | 9 | PS192600, 160500, PS604169, PS115200, 603829, 255310, 255160, 608358, 181430 |
ACTC1 | ClinVar, OMIM, HUMSAVAR | HGNC link | 15q14 | 4 | PS108800, PS192600, PS115200, PS604169 |
MIB1 | ClinVar, OMIM, HUMSAVAR | HGNC link | 18q11.2 | 1 | PS604169 |
TPM1 | ClinVar, OMIM, HUMSAVAR | HGNC link | 15q22.2 | 4 | PS604169, PS604772, PS115200, PS192600 |
LDB3 | ClinVar, OMIM, HUMSAVAR | HGNC link | 10q23.2 | 4 | PS604169, PS192600, PS601419, PS115200 |
MYBPC3 | ClinVar, OMIM, HUMSAVAR | HGNC link | 11p11.2 | 4 | PS604169, PS604772, PS115200, PS192600 |
DTNA | ClinVar, OMIM, HUMSAVAR | HGNC link | 18q12.1 | 1 | PS604169 |
Download the disease annotation in CSV format
Shared region | Number of genes associated with the disease | Genes associated with the disease |
---|---|---|
18q1 | 2 | DTNA, MIB1 |
regulated gene | associated to this disease | # TFs | TFs | # TFs associated with this disease | TFs associated with this disease |
---|---|---|---|---|---|
ACTC1 | YES | 1 | YY1 | 0 |
Gene1 | Gene2 | Direct Interaction | Number of shared interactors | Shared genes in interaction |
---|---|---|---|---|
TNNT2 | MYH7 | No | 1 | TNNI1 |
TNNT2 | ACTC1 | No | 1 | TPM1 |
TNNT2 | TPM1 | Yes | 2 | TPM1, TNNI1 |
MYH7 | TPM1 | No | 6 | ACTN2, TNNI1, KXD1, RBPJ, YWHAQ, TPM2 |
MYH7 | LDB3 | No | 1 | ACTN2 |
ACTC1 | MIB1 | No | 1 | DAPK1 |
ACTC1 | TPM1 | Yes | 4 | SP1, TPM1, PAN2, ACTA2 |
ACTC1 | MYBPC3 | No | 3 | CAPN1, TNNI3K, HSPB2 |
MIB1 | TPM1 | No | 1 | UBC |
TPM1 | LDB3 | No | 2 | ACTN2, ATP5F1 |
TPM1 | DTNA | No | 1 | SEC23A |
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 |
---|---|---|---|---|
ACTC1 | TPM1 | Yes | 1 | ACTA2 |
TPM1 | DTNA | No | 1 | SEC23A |
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 | 5 | TNNT2, MYBPC3, ACTC1, TPM1, MYH7 |
Dilated cardiomyopathy | hsa05414 | 6.08 | 5 | TNNT2, MYBPC3, ACTC1, TPM1, MYH7 |
Cardiac muscle contraction | hsa04260 | 6.34 | 4 | TNNT2, TPM1, ACTC1, MYH7 |
Adrenergic signaling in cardiomyocytes | hsa04261 | 5.44 | 4 | TNNT2, TPM1, ACTC1, MYH7 |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
Cardiovascular diseases | NEW | 5.06 | 0.0 | TNNT2, MYBPC3, ACTC1, TPM1, MYH7 |
Dilated cardiomyopathy (hsa05414) | - | 6.08 | 0.0 | TNNT2, MYBPC3, ACTC1, TPM1, MYH7 |
Circulatory system | NEW | 4.63 | 0.0 | TNNT2, TPM1, ACTC1, MYH7 |
Hypertrophic cardiomyopathy (HCM) (hsa05410) | - | 6.21 | 0.0 | TNNT2, MYBPC3, ACTC1, TPM1, MYH7 |
Cardiac muscle contraction (hsa04260) | - | 6.34 | 0.0 | TNNT2, TPM1, ACTC1, MYH7 |
Adrenergic signaling in cardiomyocytes (hsa04261) | - | 5.44 | 0.0 | TNNT2, TPM1, ACTC1, MYH7 |
REACTOME term | REACTOME term ID | IC | Number of genes with the same term | Genes |
---|---|---|---|---|
Muscle contraction | R-HSA-397014 | 6.96 | 4 | TNNT2, MYBPC3, ACTC1, TPM1 |
Striated Muscle Contraction | R-HSA-390522 | 7.81 | 4 | TNNT2, MYBPC3, ACTC1, TPM1 |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
Muscle contraction (R-HSA-397014) | - | 6.96 | 0.0 | TNNT2, MYBPC3, ACTC1, TPM1 |
Striated Muscle Contraction (R-HSA-390522) | - | 7.81 | 0.0 | TNNT2, MYBPC3, ACTC1, TPM1 |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
actin-dependent ATPase activity (GO:0030898) | NEW | 7.17 | 0.005 | ACTC1, MYH7 |
microfilament motor activity (GO:0000146) | NEW | 6.65 | 0.017 | ACTC1, MYH7 |
cytoskeletal protein binding (GO:0008092) | - | 3.02 | 0.0 | TPM1, TNNT2, MYH7, ACTC1, MIB1, LDB3, MYBPC3, DTNA |
myosin binding (GO:0017022) | - | 5.66 | 0.01 | MYBPC3, ACTC1 |
actin binding (GO:0003779) | - | 3.74 | 0.0 | TPM1, TNNT2, MYH7, ACTC1, MIB1, LDB3, MYBPC3, DTNA |
structural constituent of muscle (GO:0008307) | - | 6.02 | 0.013 | MYBPC3, TPM1, MYH7 |
calcium ion binding (GO:0005509) | NEW | 3.17 | 0.002 | TPM1, TNNT2, MYH7, ACTC1, MIB1, MYBPC3, DTNA |
tropomyosin binding (GO:0005523) | NEW | 7.1 | 0.009 | TPM1, TNNT2 |
motor activity (GO:0003774) | NEW | 4.81 | 0.046 | MIB1, ACTC1, MYH7 |