Disease table of MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION OMIM ID: 255310

Gene-disease associations table

GeneAssociated with MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
RYR1ClinVar, HUMSAVARHGNC link19q13.24255310, 117000, PS145600, 255320
SEPN1ClinVar, OMIMHGNC link1p36.112255310, 602771
ACTA1ClinVar, OMIM, HUMSAVARHGNC link1q42.133255310, PS161800, 616852
TPM3ClinVar, OMIM, HUMSAVARHGNC link1q21.32255310, PS161800
MYH7ClinVarHGNC link14q11.29PS192600, 160500, PS604169, PS115200, 603829, 255310, 255160, 608358, 181430

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
1q2TPM3, ACTA1
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
13SEPN1, TPM3, ACTA1
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
ACTA1YES4AR, FOS, JUN, KLF30
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
SEPN1TPM3No1ELAVL1
ACTA1TPM3No16HDAC8, TPM1, CUL7, CDK2, ACTB, ADD1, OBSL1, MYH9, PPP1CB, CAPZA2, TRIP6, MYO18A, NTRK1, MYH10, MCM2, TPM2
ACTA1MYH7No2TPM2, SPTAN1
TPM3MYH7No3ACTN2, TPM2, KXD1

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
RYR1ACTA1No-1CALM2
ACTA1TPM3Yesbinding19ACTN2, TPM1, MYH11, ACTN1, MYH7, MYH8, CFL1, MYH3, ITGA1, PXN, MYH9, TNNC2, MYH6, TLN1, MYH14, VCL, DSTN, UBC, TPM2
ACTA1MYH7Yesbinding16ACTN2, TPM1, MYH11, MYH6, MYH2, TPM2, MYH4, MYH14, MYH3, MYH1, TNNC2, TPM3, GAS7, MYH10, MYH8, MYH9
TPM3MYH7Yesbinding27TPM1, MYH8, MYH9, MYL3, MYL6B, MYBPC3, TPM2, MYL1, MYH11, MYH6, ACTA1, MYH14, TNNC2, ACTG2, ACTA2, ACTC1, TNNI3, MYL9, TNNT2, MYL12B, ACTN2, MYL2, TNNC1, TNNI1, TNNT3, MYH3, TNNI2

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

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
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)hsa054106.212MYH7, TPM3
Cardiac muscle contractionhsa042606.342MYH7, TPM3
Dilated cardiomyopathyhsa054146.082MYH7, TPM3
Adrenergic signaling in cardiomyocyteshsa042615.442MYH7, TPM3

NET-GE enrichment

Term New enriched termICP valueGenes
Hypertrophic cardiomyopathy (HCM) (hsa05410) -6.210.014MYH7, TPM3
Cardiac muscle contraction (hsa04260) -6.340.012MYH7, TPM3
Dilated cardiomyopathy (hsa05414) -6.080.017MYH7, TPM3
Adrenergic signaling in cardiomyocytes (hsa04261) -5.440.013MYH7, TPM3, RYR1
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Muscle contractionR-HSA-3970146.962ACTA1, TPM3
Striated Muscle ContractionR-HSA-3905227.812ACTA1, TPM3

NET-GE enrichment

Term New enriched termICP valueGenes
Muscle contraction (R-HSA-397014) -6.960.004ACTA1, TPM3
Striated Muscle Contraction (R-HSA-390522) -7.810.01ACTA1, TPM3
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.185MYH7, SEPN1, ACTA1, TPM3, RYR1
protein binding (GO:0005515) 0.465MYH7, SEPN1, ACTA1, TPM3, RYR1
cytoskeletal protein binding (GO:0008092) 3.023ACTA1, MYH7, TPM3
purine ribonucleoside triphosphate binding (GO:0035639) 2.222ACTA1, MYH7
purine nucleoside binding (GO:0001883) 2.222ACTA1, MYH7
ion binding (GO:0043167) 1.362SEPN1, RYR1
heterocyclic compound binding (GO:1901363) 1.062ACTA1, MYH7
nucleoside phosphate binding (GO:1901265) 1.962ACTA1, MYH7
nucleoside binding (GO:0001882) 2.212ACTA1, MYH7
cation binding (GO:0043169) 1.42SEPN1, RYR1
nucleotide binding (GO:0000166) 1.962ACTA1, MYH7
actin binding (GO:0003779) 3.742MYH7, TPM3
calcium ion binding (GO:0005509) 3.172SEPN1, RYR1
ribonucleoside binding (GO:0032549) 2.222ACTA1, MYH7
purine nucleotide binding (GO:0017076) 2.192ACTA1, MYH7
metal ion binding (GO:0046872) 1.412SEPN1, RYR1
ATP binding (GO:0005524) 2.432ACTA1, MYH7
small molecule binding (GO:0036094) 1.892ACTA1, MYH7
catalytic activity (GO:0003824) 1.052SEPN1, MYH7
adenyl nucleotide binding (GO:0030554) 2.42ACTA1, MYH7
carbohydrate derivative binding (GO:0097367) 2.032ACTA1, MYH7
organic cyclic compound binding (GO:0097159) 1.052ACTA1, MYH7
adenyl ribonucleotide binding (GO:0032559) 2.412ACTA1, MYH7
calmodulin binding (GO:0005516) 4.552MYH7, RYR1
purine ribonucleotide binding (GO:0032555) 2.22ACTA1, MYH7
purine ribonucleoside binding (GO:0032550) 2.222ACTA1, MYH7
ribonucleotide binding (GO:0032553) 2.192ACTA1, MYH7

NET-GE enrichment

Term New enriched termICP valueGenes
actin binding (GO:0003779) -3.740.008MYH7, ACTA1, TPM3, RYR1
calmodulin binding (GO:0005516) -4.550.021ACTA1, MYH7, RYR1
calcium ion binding (GO:0005509) -3.170.004MYH7, SEPN1, ACTA1, TPM3, RYR1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.265MYH7, SEPN1, ACTA1, TPM3, RYR1
multicellular organismal process (GO:0032501) 1.455MYH7, SEPN1, ACTA1, TPM3, RYR1
single-organism cellular process (GO:0044763) 0.655MYH7, SEPN1, ACTA1, TPM3, RYR1
single-organism process (GO:0044699) 0.485MYH7, SEPN1, ACTA1, TPM3, RYR1
system process (GO:0003008) 2.35MYH7, SEPN1, ACTA1, TPM3, RYR1
developmental process (GO:0032502) 1.364SEPN1, ACTA1, MYH7, RYR1
muscle contraction (GO:0006936) 4.374MYH7, ACTA1, TPM3, RYR1
anatomical structure development (GO:0048856) 1.584SEPN1, ACTA1, MYH7, RYR1
single-organism developmental process (GO:0044767) 1.494SEPN1, ACTA1, MYH7, RYR1
muscle system process (GO:0003012) 4.184MYH7, ACTA1, TPM3, RYR1
biological regulation (GO:0065007) 0.394SEPN1, ACTA1, MYH7, RYR1
regulation of biological process (GO:0050789) 0.454SEPN1, ACTA1, MYH7, RYR1
response to endogenous stimulus (GO:0009719) 2.793SEPN1, ACTA1, RYR1
muscle cell development (GO:0055001) 5.293SEPN1, ACTA1, RYR1
cellular response to stimulus (GO:0051716) 1.973SEPN1, ACTA1, RYR1
actin filament-based process (GO:0030029) 3.943ACTA1, MYH7, TPM3
single-multicellular organism process (GO:0044707) 1.783SEPN1, ACTA1, RYR1
skeletal muscle fiber development (GO:0048741) 6.363SEPN1, ACTA1, RYR1
cellular developmental process (GO:0048869) 1.823SEPN1, ACTA1, RYR1
response to stimulus (GO:0050896) 1.223SEPN1, ACTA1, RYR1
cell development (GO:0048468) 3.283SEPN1, ACTA1, RYR1
striated muscle cell development (GO:0055002) 5.423SEPN1, ACTA1, RYR1
myotube cell development (GO:0014904) 6.233SEPN1, ACTA1, RYR1
movement of cell or subcellular component (GO:0006928) 2.613ACTA1, MYH7, TPM3
muscle filament sliding (GO:0030049) 6.093ACTA1, MYH7, TPM3
actin filament-based movement (GO:0030048) 5.543ACTA1, MYH7, TPM3
actin-myosin filament sliding (GO:0033275) 6.093ACTA1, MYH7, TPM3
muscle fiber development (GO:0048747) 5.83SEPN1, ACTA1, RYR1
response to chemical (GO:0042221) 1.983SEPN1, ACTA1, RYR1
actin-mediated cell contraction (GO:0070252) 5.883ACTA1, MYH7, TPM3
regulation of biological quality (GO:0065008) 1.683SEPN1, MYH7, RYR1
response to organic substance (GO:0010033) 2.23SEPN1, ACTA1, RYR1
response to organic cyclic compound (GO:0014070) 3.073SEPN1, ACTA1, RYR1
regulation of multicellular organismal process (GO:0051239) 1.872MYH7, RYR1
ion homeostasis (GO:0050801) 3.422SEPN1, RYR1
regulation of sequestering of calcium ion (GO:0051282) 5.072SEPN1, RYR1
regulation of homeostatic process (GO:0032844) 3.652SEPN1, RYR1
homeostatic process (GO:0042592) 2.612SEPN1, RYR1
calcium ion homeostasis (GO:0055074) 3.972SEPN1, RYR1
cellular response to chemical stimulus (GO:0070887) 2.572SEPN1, RYR1
regulation of signaling (GO:0023051) 1.722SEPN1, RYR1
inorganic ion homeostasis (GO:0098771) 3.432SEPN1, RYR1
response to purine-containing compound (GO:0014074) 4.672SEPN1, RYR1
anatomical structure morphogenesis (GO:0009653) 2.532MYH7, RYR1
cellular component organization or biogenesis (GO:0071840) 1.222SEPN1, ACTA1
divalent inorganic cation homeostasis (GO:0072507) 3.92SEPN1, RYR1
single-organism metabolic process (GO:0044710) 1.632SEPN1, MYH7
growth (GO:0040007) 3.82SEPN1, ACTA1
regulation of system process (GO:0044057) 3.532MYH7, RYR1
cellular response to purine-containing compound (GO:0071415) 7.532SEPN1, RYR1
cellular response to organonitrogen compound (GO:0071417) 3.872SEPN1, RYR1
cellular component organization (GO:0016043) 1.242SEPN1, ACTA1
cellular response to alkaloid (GO:0071312) 6.22SEPN1, RYR1
cellular response to caffeine (GO:0071313) 7.652SEPN1, RYR1
cellular response to organic substance (GO:0071310) 2.782SEPN1, RYR1
animal organ development (GO:0048513) 2.532MYH7, RYR1
positive regulation of biological process (GO:0048518) 1.22SEPN1, ACTA1
cellular response to endogenous stimulus (GO:0071495) 3.332SEPN1, RYR1
regulation of response to stimulus (GO:0048583) 1.542SEPN1, MYH7
regulation of heart contraction (GO:0008016) 4.352MYH7, RYR1
response to caffeine (GO:0031000) 6.842SEPN1, RYR1
regulation of cellular process (GO:0050794) 0.52SEPN1, RYR1
response to stress (GO:0006950) 1.82SEPN1, RYR1
regulation of blood circulation (GO:1903522) 4.052MYH7, RYR1
metabolic process (GO:0008152) 0.582SEPN1, MYH7
metal ion homeostasis (GO:0055065) 3.612SEPN1, RYR1
cation homeostasis (GO:0055080) 3.462SEPN1, RYR1
response to alkaloid (GO:0043279) 4.832SEPN1, RYR1
regulation of localization (GO:0032879) 1.942SEPN1, RYR1
response to abiotic stimulus (GO:0009628) 2.82ACTA1, RYR1
cellular response to organic cyclic compound (GO:0071407) 3.932SEPN1, RYR1
response to organonitrogen compound (GO:0010243) 3.22SEPN1, RYR1
cellular response to nitrogen compound (GO:1901699) 3.792SEPN1, RYR1
chemical homeostasis (GO:0048878) 2.972SEPN1, RYR1
regulation of ion homeostasis (GO:2000021) 4.442SEPN1, RYR1
response to nitrogen compound (GO:1901698) 3.122SEPN1, RYR1

NET-GE enrichment

Term New enriched termICP valueGenes
muscle cell development (GO:0055001) -5.290.034ACTA1, RYR1
striated muscle cell development (GO:0055002) -5.420.026ACTA1, RYR1
actin filament-based process (GO:0030029) -3.940.005MYH7, ACTA1, TPM3, RYR1
muscle contraction (GO:0006936) -4.370.001MYH7, ACTA1, TPM3, RYR1
skeletal muscle fiber development (GO:0048741) -6.360.035ACTA1, RYR1
actin-myosin filament sliding (GO:0033275) -6.090.0ACTA1, MYH7, TPM3
myotube cell development (GO:0014904) -6.230.047ACTA1, RYR1
muscle filament sliding (GO:0030049) -6.090.0ACTA1, MYH7, TPM3
actin filament-based movement (GO:0030048) -5.540.001ACTA1, MYH7, TPM3
muscle system process (GO:0003012) -4.180.003MYH7, ACTA1, TPM3, RYR1
muscle fiber development (GO:0048747) -5.80.009ACTA1, RYR1
actin-mediated cell contraction (GO:0070252) -5.880.0ACTA1, MYH7, TPM3
system process (GO:0003008) -2.30.014MYH7, ACTA1, TPM3, RYR1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.115MYH7, SEPN1, ACTA1, TPM3, RYR1
intracellular organelle (GO:0043229) 0.515MYH7, SEPN1, ACTA1, TPM3, RYR1
intracellular organelle part (GO:0044446) 0.815MYH7, SEPN1, ACTA1, TPM3, RYR1
cytoplasmic part (GO:0044444) 0.825MYH7, SEPN1, ACTA1, TPM3, RYR1
intracellular part (GO:0044424) 0.285MYH7, SEPN1, ACTA1, TPM3, RYR1
organelle (GO:0043226) 0.45MYH7, SEPN1, ACTA1, TPM3, RYR1
organelle part (GO:0044422) 0.795MYH7, SEPN1, ACTA1, TPM3, RYR1
cytoplasm (GO:0005737) 1.014MYH7, ACTA1, TPM3, RYR1
membrane-bounded organelle (GO:0043227) 0.474SEPN1, ACTA1, TPM3, RYR1
contractile fiber part (GO:0044449) 4.534MYH7, ACTA1, TPM3, RYR1
actin filament bundle (GO:0032432) 5.743ACTA1, MYH7, TPM3
stress fiber (GO:0001725) 5.813ACTA1, MYH7, TPM3
extracellular vesicle (GO:1903561) 1.893ACTA1, TPM3, RYR1
extracellular organelle (GO:0043230) 1.893ACTA1, TPM3, RYR1
vesicle (GO:0031982) 1.643ACTA1, TPM3, RYR1
intracellular non-membrane-bounded organelle (GO:0043232) 1.763ACTA1, MYH7, TPM3
extracellular exosome (GO:0070062) 1.893ACTA1, TPM3, RYR1
membrane-bounded vesicle (GO:0031988) 1.713ACTA1, TPM3, RYR1
non-membrane-bounded organelle (GO:0043228) 1.763ACTA1, MYH7, TPM3
cytoskeletal part (GO:0044430) 2.493ACTA1, MYH7, TPM3
contractile actin filament bundle (GO:0097517) 5.813ACTA1, MYH7, TPM3
extracellular region part (GO:0044421) 1.573ACTA1, TPM3, RYR1
actomyosin (GO:0042641) 5.663ACTA1, MYH7, TPM3
cytoskeleton (GO:0005856) 2.552ACTA1, TPM3
protein complex (GO:0043234) 1.512MYH7, RYR1
macromolecular complex (GO:0032991) 1.352MYH7, RYR1
endoplasmic reticulum (GO:0005783) 2.562SEPN1, RYR1
endoplasmic reticulum part (GO:0044432) 2.732SEPN1, RYR1
cytosol (GO:0005829) 1.682ACTA1, TPM3
membrane (GO:0016020) 0.682SEPN1, RYR1
endoplasmic reticulum membrane (GO:0005789) 2.952SEPN1, RYR1
sarcomere (GO:0030017) 5.952ACTA1, MYH7
membrane part (GO:0044425) 0.952SEPN1, RYR1
intracellular membrane-bounded organelle (GO:0043231) 0.62SEPN1, RYR1

NET-GE enrichment

Term New enriched termICP valueGenes
actin filament bundle (GO:0032432) -5.740.0ACTA1, MYH7, TPM3
stress fiber (GO:0001725) -5.810.0ACTA1, MYH7, TPM3
I band (GO:0031674) NEW6.670.011ACTA1, RYR1
myofibril (GO:0030016) NEW6.140.027ACTA1, TPM3
sarcomere (GO:0030017) -5.950.031ACTA1, MYH7
contractile fiber part (GO:0044449) -4.530.001MYH7, ACTA1, TPM3, RYR1
Z disc (GO:0030018) NEW5.110.007ACTA1, MYH7, RYR1
actomyosin (GO:0042641) -5.660.001ACTA1, MYH7, TPM3