Disease table of FAMILIAL RESTRICTIVE CARDIOMYOPATHY OMIM ID: PS115210

Gene-disease associations table

GeneAssociated with FAMILIAL RESTRICTIVE CARDIOMYOPATHY inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
TNNT2ClinVar, OMIMHGNC link1q32.15PS192600, PS604169, 218040, PS115200, PS115210
MYPNClinVar, OMIM, HUMSAVARHGNC link10q21.33PS192600, PS115200, PS115210
TNNI3ClinVar, OMIM, HUMSAVARHGNC link19q13.423PS192600, PS115200, PS115210

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
TNNI3YES2SP1, MEF2A0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
TNNT2TNNI3Yes1TNNC1

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
TNNT2MYPNNo-3ACTN2, TTN, NEB
TNNT2TNNI3Yesbinding28TPM1, TMOD1, DES, MYL4, TNNT3, VIM, MYL3, MYBPC1, TPM2, MYL1, MYH3, MYBPC2, MYH14, NEB, TNNC2, MYH6, MYH8, TNNT1, MYH7, MYBPC3, ACTN2, MYL2, TTN, TNNI1, TPM3, TNNC1, TNNI2, TPM4
MYPNTNNI3No-3ACTN2, TTN, NEB

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Gene1Gene2InteractionNumber of common interactorsCommon genes in interaction
TNNT2TNNI3Yes3TNNC1, TNNI3, TNNT2

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Hypertrophic cardiomyopathy (HCM)hsa054106.212TNNI3, TNNT2
Cardiac muscle contractionhsa042606.342TNNI3, TNNT2
Dilated cardiomyopathyhsa054146.082TNNI3, TNNT2
Adrenergic signaling in cardiomyocyteshsa042615.442TNNI3, TNNT2

NET-GE enrichment

Term New enriched termICP valueGenes
Cardiovascular diseasesNEW5.060.011TNNI3, TNNT2
Dilated cardiomyopathy (hsa05414) -6.080.019TNNI3, TNNT2
Circulatory systemNEW4.630.02TNNI3, TNNT2
Hypertrophic cardiomyopathy (HCM) (hsa05410) -6.210.002TNNI3, TNNT2
Cardiac muscle contraction (hsa04260) -6.340.002TNNI3, TNNT2
Adrenergic signaling in cardiomyocytes (hsa04261) -5.440.006TNNI3, TNNT2
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Muscle contractionR-HSA-3970146.962TNNI3, TNNT2
Striated Muscle ContractionR-HSA-3905227.812TNNI3, TNNT2

NET-GE enrichment

Term New enriched termICP valueGenes
Muscle contraction (R-HSA-397014) -6.960.003TNNI3, TNNT2
Striated Muscle Contraction (R-HSA-390522) -7.810.0TNNI3, TNNT2
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
actin binding (GO:0003779) 3.743TNNI3, TNNT2, MYPN
binding (GO:0005488) 0.183TNNI3, TNNT2, MYPN
protein binding (GO:0005515) 0.463TNNI3, TNNT2, MYPN
cytoskeletal protein binding (GO:0008092) 3.023TNNI3, TNNT2, MYPN
protein domain specific binding (GO:0019904) 3.322TNNI3, MYPN
troponin C binding (GO:0030172) 8.642TNNI3, TNNT2

NET-GE enrichment

Term New enriched termICP valueGenes
cytoskeletal protein binding (GO:0008092) -3.020.002TNNI3, TNNT2, MYPN
troponin I binding (GO:0031013) NEW8.130.0TNNI3, TNNT2
actin binding (GO:0003779) -3.740.0TNNI3, TNNT2, MYPN
troponin C binding (GO:0030172) -8.640.0TNNI3, TNNT2
tropomyosin binding (GO:0005523) NEW7.10.0TNNT2, MYPN
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.263TNNI3, TNNT2, MYPN
single-organism cellular process (GO:0044763) 0.653TNNI3, TNNT2, MYPN
actin filament-based process (GO:0030029) 3.943TNNI3, TNNT2, MYPN
single-organism process (GO:0044699) 0.483TNNI3, TNNT2, MYPN
ventricular cardiac muscle tissue morphogenesis (GO:0055010) 6.072TNNI3, TNNT2
movement of cell or subcellular component (GO:0006928) 2.612TNNI3, TNNT2
striated muscle contraction (GO:0006941) 5.372TNNI3, TNNT2
muscle system process (GO:0003012) 4.182TNNI3, TNNT2
multicellular organismal process (GO:0032501) 1.452TNNI3, TNNT2
anatomical structure morphogenesis (GO:0009653) 2.532TNNI3, TNNT2
cardiac muscle contraction (GO:0060048) 5.882TNNI3, TNNT2
regulation of biological process (GO:0050789) 0.452TNNI3, TNNT2
cellular component organization or biogenesis (GO:0071840) 1.222TNNT2, MYPN
regulation of ATPase activity (GO:0043462) 5.592TNNI3, TNNT2
negative regulation of hydrolase activity (GO:0051346) 3.742TNNI3, TNNT2
regulation of system process (GO:0044057) 3.532TNNI3, TNNT2
cellular component organization (GO:0016043) 1.242TNNT2, MYPN
negative regulation of catalytic activity (GO:0043086) 3.02TNNI3, TNNT2
cardiac muscle tissue morphogenesis (GO:0055008) 5.82TNNI3, TNNT2
actin-myosin filament sliding (GO:0033275) 6.092TNNI3, TNNT2
biological regulation (GO:0065007) 0.392TNNI3, TNNT2
tissue morphogenesis (GO:0048729) 3.872TNNI3, TNNT2
negative regulation of molecular function (GO:0044092) 2.742TNNI3, TNNT2
regulation of molecular function (GO:0065009) 1.782TNNI3, TNNT2
regulation of biological quality (GO:0065008) 1.682TNNI3, TNNT2
developmental process (GO:0032502) 1.362TNNI3, TNNT2
regulation of catalytic activity (GO:0050790) 1.972TNNI3, TNNT2
muscle contraction (GO:0006936) 4.372TNNI3, TNNT2
regulation of muscle contraction (GO:0006937) 4.752TNNI3, TNNT2
negative regulation of ATPase activity (GO:0032780) 7.162TNNI3, TNNT2
regulation of heart contraction (GO:0008016) 4.352TNNI3, TNNT2
muscle filament sliding (GO:0030049) 6.092TNNI3, TNNT2
actin filament-based movement (GO:0030048) 5.542TNNI3, TNNT2
regulation of blood circulation (GO:1903522) 4.052TNNI3, TNNT2
regulation of muscle system process (GO:0090257) 4.512TNNI3, TNNT2
regulation of multicellular organismal process (GO:0051239) 1.872TNNI3, TNNT2
system process (GO:0003008) 2.32TNNI3, TNNT2
regulation of hydrolase activity (GO:0051336) 2.532TNNI3, TNNT2
single-organism developmental process (GO:0044767) 1.492TNNI3, TNNT2
actin-mediated cell contraction (GO:0070252) 5.882TNNI3, TNNT2
muscle tissue morphogenesis (GO:0060415) 5.622TNNI3, TNNT2

NET-GE enrichment

Term New enriched termICP valueGenes
cardiac muscle tissue morphogenesis (GO:0055008) -5.80.004TNNI3, TNNT2, MYPN
regulation of ATPase activity (GO:0043462) -5.590.018TNNI3, TNNT2
actomyosin structure organization (GO:0031032) NEW5.40.005TNNT2, MYPN
ventricular cardiac muscle tissue morphogenesis (GO:0055010) -6.070.002TNNI3, TNNT2
negative regulation of ATPase activity (GO:0032780) -7.160.0TNNI3, TNNT2
regulation of muscle contraction (GO:0006937) -4.750.02TNNI3, TNNT2
muscle filament sliding (GO:0030049) -6.090.002TNNI3, TNNT2
actin filament-based movement (GO:0030048) -5.540.006TNNI3, TNNT2
actin-myosin filament sliding (GO:0033275) -6.090.002TNNI3, TNNT2
sarcomere organization (GO:0045214) NEW6.40.001TNNT2, MYPN
regulation of muscle system process (GO:0090257) -4.510.033TNNI3, TNNT2
actin filament-based process (GO:0030029) -3.940.027TNNI3, TNNT2, MYPN
actin-mediated cell contraction (GO:0070252) -5.880.003TNNI3, TNNT2
muscle tissue morphogenesis (GO:0060415) -5.620.005TNNI3, TNNT2, MYPN
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.113TNNI3, TNNT2, MYPN
cytoplasmic part (GO:0044444) 0.823TNNI3, TNNT2, MYPN
sarcomere (GO:0030017) 5.953TNNI3, TNNT2, MYPN
intracellular organelle (GO:0043229) 0.513TNNI3, TNNT2, MYPN
intracellular part (GO:0044424) 0.283TNNI3, TNNT2, MYPN
organelle (GO:0043226) 0.43TNNI3, TNNT2, MYPN
organelle part (GO:0044422) 0.793TNNI3, TNNT2, MYPN
contractile fiber part (GO:0044449) 4.533TNNI3, TNNT2, MYPN
cytoplasm (GO:0005737) 1.012TNNI3, MYPN
protein complex (GO:0043234) 1.512TNNI3, TNNT2
macromolecular complex (GO:0032991) 1.352TNNI3, TNNT2
intracellular non-membrane-bounded organelle (GO:0043232) 1.762TNNI3, TNNT2
cytosol (GO:0005829) 1.682TNNI3, TNNT2
intracellular organelle part (GO:0044446) 0.812TNNI3, TNNT2
myofibril (GO:0030016) 6.142TNNI3, TNNT2
non-membrane-bounded organelle (GO:0043228) 1.762TNNI3, TNNT2
cytoskeletal part (GO:0044430) 2.492TNNI3, TNNT2
contractile fiber (GO:0043292) 5.812TNNI3, TNNT2
troponin complex (GO:0005861) 7.722TNNI3, TNNT2

NET-GE enrichment

Term New enriched termICP valueGenes
sarcomere (GO:0030017) -5.950.003TNNI3, TNNT2
troponin complex (GO:0005861) -7.720.0TNNI3, TNNT2
contractile fiber part (GO:0044449) -4.530.001TNNI3, TNNT2, MYPN