Disease table of ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA OMIM ID: PS107970

Gene-disease associations table

GeneAssociated with ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
TGFB3ClinVar, OMIMHGNC link14q24.32PS609192, PS107970
RYR2ClinVar, OMIM, HUMSAVARHGNC link1q434115000, PS604772, PS107970, 603829
DSC2ClinVar, OMIM, HUMSAVARHGNC link18q12.11PS107970
DSPClinVar, OMIM, HUMSAVARHGNC link6p24.38607655, 615821, PS604772, 609638, 612908, 605676, PS107970, 603829
JUPClinVar, OMIM, HUMSAVARHGNC link17q21.24601214, PS107970, 115000, 603829
PKP2ClinVar, OMIM, HUMSAVARHGNC link12p11.212PS107970, 603829
DSG2ClinVar, OMIM, HUMSAVARHGNC link18q12.14115000, PS604772, PS115200, PS107970
TMEM43ClinVar, OMIM, HUMSAVARHGNC link3p25.12PS310300, PS107970
CTNNA3ClinVar, OMIM, HUMSAVARHGNC link10q21.31PS107970

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Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
18q12.12DSC2, DSG2
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
18q122DSC2, DSG2
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
18q12DSC2, DSG2
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
18q2DSC2, DSG2
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
182DSC2, DSG2
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
TGFB3YES1HIF1A0
DSC2YES2CDX2, CDX10
JUPYES1DNMT3A0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
TGFB3DSC2No1ELAVL1
RYR2PKP2No1HSPB2
RYR2TMEM43No1CFTR
DSC2DSPNo3JUP, PKP2, PKP3
DSC2JUPYes7DSG1, TMEM17, GMCL1, DSG2, FLNB, PKP2, PKP3
DSC2PKP2Yes4JUP, TMEM17, DSG1, DSG2
DSC2DSG2Yes7TMEM216, TMEM17, JUP, FLNB, RYK, PKP2, PKP3
DSC2CTNNA3No1JUP
DSPJUPYes24WWOX, HNRNPA1, TARDBP, CCDC8, INSIG2, PKP2, PECAM1, CEP128, DYNLL1, COPS5, DSC1, OBSL1, EED, PTEN, CUL2, PKP3, DSP, CDK2, DES, MCM5, CDH5, NTRK1, MCM2, CUL7
DSPPKP2Yes6EED, SEC16A, JUP, DSP, DSC1, CUL3
DSPDSG2No8OBSL1, EED, CCDC8, JUP, CUL7, DSC1, PKP2, PKP3
DSPTMEM43No1NTRK1
DSPCTNNA3No1JUP
JUPPKP2Yes8APC, TMEM17, DSC2, EED, DSG2, DSG1, DSC1, DSP
JUPDSG2Yes27TPM1, DSC2, BMPR1A, MYH9, PKP3, EGFR, LIMA1, PAN2, ABCE1, DBN1, FLNB, OBSL1, DSC1, TMEM17, EED, GOLT1B, PPP1CB, TMOD3, PKP2, CHMP4B, FLOT1, CORO1C, FLNA, CCDC8, SYNPO, MYH10, CUL7
JUPTMEM43No6GOLT1B, CUL4B, BMPR1A, RAB5C, NTRK1, RAB7A
JUPCTNNA3Yes2CTNNA1, CTNNB1
PKP2DSG2Yes5EED, JUP, DSC1, TMEM17, DSC2
PKP2CTNNA3No1JUP
DSG2TMEM43No3GOLT1B, PLIN3, BMPR1A
DSG2CTNNA3No2GAG, JUP

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
TGFB3RYR2No-1PPP2R5D
TGFB3JUPNo-1CDH1
TGFB3CTNNA3No-3ACTN2, ACTN4, ACTN1
RYR2CTNNA3No-1PSEN1
DSC2DSPNo-4KRT16, JUP, PKP2, PKP3
DSC2JUPYesactivation, binding1DSG2
DSC2PKP2Yesbinding1DSG2
DSC2DSG2Yesbinding3JUP, PKP2, PKP3
DSC2CTNNA3No-1JUP
DSPJUPYesbinding3PKP4, DSC1, CDH5
DSPPKP2Yesbinding2DSC1, MYZAP
DSPDSG2No-4UBC, JUP, PKP2, PKP3
DSPTMEM43No-1UBC
DSPCTNNA3No-1JUP
JUPPKP2No-6CTNNB1, DSC2, DSG2, DSP, DSC1, DSG1
JUPDSG2Yesactivation1DSC2
JUPCTNNA3Yesbinding2VCL, CTNNB1
PKP2DSG2Yesbinding1DSC2
PKP2CTNNA3No-1CTNNB1
DSG2TMEM43No-1UBC
DSG2CTNNA3No-1JUP

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
DSC2DSG2Yes2DSC2, DSG2

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
Arrhythmogenic right ventricular cardiomyopathy (ARVC)hsa054126.327RYR2, CTNNA3, DSC2, DSG2, JUP, PKP2, DSP
Pathways in cancerhsa052003.983JUP, TGFB3, CTNNA3
Hypertrophic cardiomyopathy (HCM)hsa054106.212RYR2, TGFB3
Hippo signaling pathwayhsa043905.372TGFB3, CTNNA3
Dilated cardiomyopathyhsa054146.082RYR2, TGFB3

NET-GE enrichment

Term New enriched termICP valueGenes
Human DiseasesNEW1.540.012RYR2, CTNNA3, DSC2, TGFB3, DSG2, JUP, PKP2, DSP
Arrhythmogenic right ventricular cardiomyopathy (ARVC) (hsa05412) -6.320.0RYR2, CTNNA3, DSC2, DSG2, JUP, PKP2, DSP
Cardiovascular diseasesNEW5.060.0RYR2, CTNNA3, DSC2, TGFB3, DSG2, JUP, PKP2, DSP
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Apoptotic execution phaseR-HSA-751537.282DSP, DSG2
Apoptotic cleavage of cellular proteinsR-HSA-1114657.732DSP, DSG2
Programmed Cell DeathR-HSA-53578015.652DSP, DSG2
Apoptotic cleavage of cell adhesion proteinsR-HSA-3519069.522DSP, DSG2
ApoptosisR-HSA-1095815.682DSP, DSG2

NET-GE enrichment

Term New enriched termICP valueGenes
Apoptotic cleavage of cellular proteins (R-HSA-111465) -7.730.005JUP, DSP, DSG2
Apoptotic execution phase (R-HSA-75153) -7.280.01JUP, DSP, DSG2
Apoptotic cleavage of cell adhesion proteins (R-HSA-351906) -9.520.0JUP, DSP, DSG2
Programmed Cell Death (R-HSA-5357801) -5.650.01JUP, DSP, DSG2
Apoptosis (R-HSA-109581) -5.680.009JUP, DSP, DSG2
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.189RYR2, CTNNA3, DSC2, TGFB3, TMEM43, DSG2, JUP, PKP2, DSP
protein binding (GO:0005515) 0.469RYR2, CTNNA3, DSC2, TGFB3, TMEM43, DSG2, JUP, PKP2, DSP
protein binding involved in heterotypic cell-cell adhesion (GO:0086080) 7.546DSC2, CTNNA3, DSG2, JUP, PKP2, DSP
protein binding involved in cell adhesion (GO:0098631) 6.916DSC2, CTNNA3, DSG2, JUP, PKP2, DSP
protein binding involved in cell-cell adhesion (GO:0098632) 7.346DSC2, CTNNA3, DSG2, JUP, PKP2, DSP
cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication (GO:0086083) 7.956DSC2, CTNNA3, DSG2, JUP, PKP2, DSP
protein kinase binding (GO:0019901) 3.444JUP, PKP2, RYR2, DSP
kinase binding (GO:0019900) 3.324JUP, PKP2, RYR2, DSP
cell adhesion molecule binding (GO:0050839) 4.54CTNNA3, JUP, DSP, DSG2
enzyme binding (GO:0019899) 2.274JUP, PKP2, RYR2, DSP
cation binding (GO:0043169) 1.43RYR2, DSC2, DSG2
structural molecule activity (GO:0005198) 3.13JUP, PKP2, DSP
ion binding (GO:0043167) 1.363RYR2, DSC2, DSG2
calcium ion binding (GO:0005509) 3.173RYR2, DSC2, DSG2
metal ion binding (GO:0046872) 1.413RYR2, DSC2, DSG2
identical protein binding (GO:0042802) 2.633JUP, TGFB3, RYR2
protein kinase C binding (GO:0005080) 5.832PKP2, DSP
alpha-catenin binding (GO:0045294) 7.442JUP, PKP2
cadherin binding (GO:0045296) 6.412JUP, CTNNA3
macromolecular complex binding (GO:0044877) 2.612PKP2, CTNNA3
signal transducer activity (GO:0004871) 2.282JUP, RYR2
organic cyclic compound binding (GO:0097159) 1.052RYR2, DSP
protein complex binding (GO:0032403) 3.092PKP2, CTNNA3
ion channel binding (GO:0044325) 5.022RYR2, PKP2
protein dimerization activity (GO:0046983) 2.722JUP, TGFB3
protein self-association (GO:0043621) 5.932RYR2, TMEM43

NET-GE enrichment

Term New enriched termICP valueGenes
protein kinase binding (GO:0019901) -3.440.003PKP2, JUP, TGFB3, RYR2, DSP
intermediate filament binding (GO:0019215) NEW7.10.002PKP2, DSP
protein kinase C binding (GO:0005080) -5.830.016PKP2, DSP
cadherin binding (GO:0045296) -6.410.007JUP, CTNNA3
structural molecule activity (GO:0005198) -3.10.045CTNNA3, JUP, PKP2, RYR2, DSP
kinase binding (GO:0019900) -3.320.027PKP2, RYR2, TGFB3, JUP, DSP
cell adhesion molecule binding (GO:0050839) -4.50.005JUP, CTNNA3, DSP
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
single-organism process (GO:0044699) 0.489RYR2, CTNNA3, DSC2, TGFB3, TMEM43, DSG2, JUP, PKP2, DSP
multicellular organismal process (GO:0032501) 1.458RYR2, CTNNA3, DSC2, TGFB3, DSG2, JUP, PKP2, DSP
single-multicellular organism process (GO:0044707) 1.788RYR2, CTNNA3, DSC2, TGFB3, DSG2, JUP, PKP2, DSP
cellular process (GO:0009987) 0.268RYR2, DSC2, TGFB3, TMEM43, DSG2, JUP, PKP2, DSP
regulation of cellular process (GO:0050794) 0.58RYR2, CTNNA3, DSC2, TGFB3, DSG2, JUP, PKP2, DSP
single-organism cellular process (GO:0044763) 0.658RYR2, DSC2, TGFB3, TMEM43, DSG2, JUP, PKP2, DSP
regulation of multicellular organismal process (GO:0051239) 1.878RYR2, CTNNA3, DSC2, TGFB3, DSG2, JUP, PKP2, DSP
biological regulation (GO:0065007) 0.398RYR2, CTNNA3, DSC2, TGFB3, DSG2, JUP, PKP2, DSP
regulation of localization (GO:0032879) 1.948RYR2, CTNNA3, DSC2, TGFB3, DSG2, JUP, PKP2, DSP
regulation of biological process (GO:0050789) 0.458RYR2, CTNNA3, DSC2, TGFB3, DSG2, JUP, PKP2, DSP
regulation of cardiac muscle cell contraction (GO:0086004) 6.517RYR2, CTNNA3, DSC2, DSG2, JUP, PKP2, DSP
single organism signaling (GO:0044700) 3.257RYR2, CTNNA3, DSC2, DSG2, JUP, PKP2, DSP
regulation of cellular component movement (GO:0051270) 3.087RYR2, CTNNA3, DSC2, DSG2, JUP, PKP2, DSP
regulation of actin filament-based movement (GO:1903115) 6.337RYR2, CTNNA3, DSC2, DSG2, JUP, PKP2, DSP
regulation of system process (GO:0044057) 3.537RYR2, CTNNA3, DSC2, DSG2, JUP, PKP2, DSP
regulation of membrane potential (GO:0042391) 3.897RYR2, CTNNA3, DSC2, DSG2, JUP, PKP2, DSP
regulation of muscle contraction (GO:0006937) 4.757RYR2, CTNNA3, DSC2, DSG2, JUP, PKP2, DSP
regulation of actin filament-based process (GO:0032970) 3.977RYR2, CTNNA3, DSC2, DSG2, JUP, PKP2, DSP
regulation of heart contraction (GO:0008016) 4.357RYR2, CTNNA3, DSC2, DSG2, JUP, PKP2, DSP
regulation of heart rate (GO:0002027) 5.297RYR2, CTNNA3, DSC2, DSG2, JUP, PKP2, DSP
regulation of striated muscle contraction (GO:0006942) 5.387RYR2, CTNNA3, DSC2, DSG2, JUP, PKP2, DSP
regulation of blood circulation (GO:1903522) 4.057RYR2, CTNNA3, DSC2, DSG2, JUP, PKP2, DSP
regulation of muscle system process (GO:0090257) 4.517RYR2, CTNNA3, DSC2, DSG2, JUP, PKP2, DSP
regulation of action potential (GO:0098900) 6.077RYR2, CTNNA3, DSC2, DSG2, JUP, PKP2, DSP
regulation of cardiac muscle cell action potential (GO:0098901) 6.787RYR2, CTNNA3, DSC2, DSG2, JUP, PKP2, DSP
regulation of ventricular cardiac muscle cell action potential (GO:0098911) 7.337RYR2, CTNNA3, DSC2, DSG2, JUP, PKP2, DSP
regulation of biological quality (GO:0065008) 1.687RYR2, CTNNA3, DSC2, DSG2, JUP, PKP2, DSP
regulation of cardiac muscle contraction (GO:0055117) 5.577RYR2, CTNNA3, DSC2, DSG2, JUP, PKP2, DSP
signaling (GO:0023052) 3.257RYR2, CTNNA3, DSC2, DSG2, JUP, PKP2, DSP
developmental process (GO:0032502) 1.366RYR2, TGFB3, DSG2, JUP, PKP2, DSP
single organism cell adhesion (GO:0098602) 3.636DSC2, CTNNA3, DSG2, JUP, PKP2, DSP
single organismal cell-cell adhesion (GO:0016337) 3.696DSC2, CTNNA3, DSG2, JUP, PKP2, DSP
multicellular organismal signaling (GO:0035637) 5.366DSC2, CTNNA3, DSG2, JUP, PKP2, DSP
cardiac conduction (GO:0061337) 5.546DSC2, CTNNA3, DSG2, JUP, PKP2, DSP
cell-cell adhesion (GO:0098609) 3.346DSC2, CTNNA3, DSG2, JUP, PKP2, DSP
homotypic cell-cell adhesion (GO:0034109) 5.766DSC2, CTNNA3, DSG2, JUP, PKP2, DSP
response to stimulus (GO:0050896) 1.226RYR2, DSC2, TGFB3, DSG2, JUP, DSP
anatomical structure development (GO:0048856) 1.586RYR2, TGFB3, DSG2, JUP, PKP2, DSP
cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042) 7.946DSC2, CTNNA3, DSG2, JUP, PKP2, DSP
cellular component organization (GO:0016043) 1.246TGFB3, TMEM43, DSG2, JUP, PKP2, DSP
regulation of heart rate by cardiac conduction (GO:0086091) 6.336DSC2, CTNNA3, DSG2, JUP, PKP2, DSP
bundle of His cell-Purkinje myocyte adhesion involved in cell communication (GO:0086073) 7.946DSC2, CTNNA3, DSG2, JUP, PKP2, DSP
cell adhesion (GO:0007155) 2.826DSC2, CTNNA3, DSG2, JUP, PKP2, DSP
heterotypic cell-cell adhesion (GO:0034113) 6.436DSC2, CTNNA3, DSG2, JUP, PKP2, DSP
biological adhesion (GO:0022610) 2.816DSC2, CTNNA3, DSG2, JUP, PKP2, DSP
cellular component organization or biogenesis (GO:0071840) 1.226TGFB3, TMEM43, DSG2, JUP, PKP2, DSP
cell junction organization (GO:0034330) 4.515DSP, JUP, TGFB3, PKP2, DSG2
localization (GO:0051179) 1.45PKP2, RYR2, TGFB3, JUP, DSP
cell-cell junction organization (GO:0045216) 4.665DSP, JUP, TGFB3, PKP2, DSG2
response to oxygen-containing compound (GO:1901700) 2.574JUP, TGFB3, RYR2, DSG2
establishment of protein localization (GO:0045184) 2.534PKP2, RYR2, TGFB3, JUP
establishment of localization (GO:0051234) 1.484PKP2, RYR2, TGFB3, JUP
positive regulation of transport (GO:0051050) 2.94PKP2, RYR2, TGFB3, JUP
regulation of transport (GO:0051049) 2.244PKP2, JUP, TGFB3, RYR2
response to endogenous stimulus (GO:0009719) 2.794RYR2, TGFB3, JUP, DSG2
single-organism developmental process (GO:0044767) 1.494RYR2, TGFB3, PKP2, DSP
desmosome organization (GO:0002934) 7.534DSP, JUP, PKP2, DSG2
response to stress (GO:0006950) 1.84RYR2, TGFB3, DSP, DSC2
animal organ development (GO:0048513) 2.534JUP, TGFB3, PKP2, DSP
positive regulation of biological process (GO:0048518) 1.24PKP2, RYR2, TGFB3, JUP
response to chemical (GO:0042221) 1.984JUP, TGFB3, RYR2, DSG2
anatomical structure morphogenesis (GO:0009653) 2.534RYR2, TGFB3, PKP2, DSP
response to organic substance (GO:0010033) 2.24RYR2, TGFB3, JUP, DSG2
response to organic cyclic compound (GO:0014070) 3.074RYR2, TGFB3, JUP, DSG2
regulation of primary metabolic process (GO:0080090) 1.083RYR2, TGFB3, JUP
regulation of cellular localization (GO:0060341) 3.033RYR2, TGFB3, JUP
ventricular cardiac muscle tissue morphogenesis (GO:0055010) 6.073RYR2, PKP2, DSP
adherens junction organization (GO:0034332) 5.483JUP, PKP2, DSP
regulation of cellular metabolic process (GO:0031323) 1.073RYR2, TGFB3, JUP
signal transduction (GO:0007165) 1.283JUP, TGFB3, RYR2
regulation of signaling (GO:0023051) 1.723RYR2, TGFB3, JUP
regulation of cell communication (GO:0010646) 1.733JUP, TGFB3, RYR2
cellular response to stimulus (GO:0051716) 1.973JUP, RYR2, DSC2
regulation of metabolic process (GO:0019222) 1.023RYR2, TGFB3, JUP
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.463JUP, TGFB3, RYR2
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.433JUP, TGFB3, RYR2
positive regulation of molecular function (GO:0044093) 2.233RYR2, TGFB3, JUP
regulation of cellular biosynthetic process (GO:0031326) 1.383RYR2, TGFB3, JUP
negative regulation of biological process (GO:0048519) 1.333RYR2, TGFB3, PKP2
regulation of molecular function (GO:0065009) 1.783JUP, TGFB3, RYR2
regulation of gene expression (GO:0010468) 1.373JUP, TGFB3, RYR2
regulation of cell proliferation (GO:0042127) 2.413JUP, TGFB3, PKP2
tissue morphogenesis (GO:0048729) 3.873RYR2, PKP2, DSP
cardiac muscle tissue morphogenesis (GO:0055008) 5.83RYR2, PKP2, DSP
regulation of biosynthetic process (GO:0009889) 1.373RYR2, TGFB3, JUP
regulation of nucleic acid-templated transcription (GO:1903506) 1.553JUP, TGFB3, RYR2
regulation of nitrogen compound metabolic process (GO:0051171) 1.363JUP, TGFB3, RYR2
regulation of RNA biosynthetic process (GO:2001141) 1.553RYR2, TGFB3, JUP
cell communication (GO:0007154) 3.043RYR2, PKP2, DSC2
single-organism localization (GO:1902578) 2.093RYR2, TGFB3, JUP
organelle organization (GO:0006996) 2.023JUP, PKP2, DSP
response to abiotic stimulus (GO:0009628) 2.83JUP, TGFB3, RYR2
detection of stimulus (GO:0051606) 3.223RYR2, TGFB3, JUP
response to external stimulus (GO:0009605) 2.553JUP, RYR2, DSC2
regulation of macromolecule metabolic process (GO:0060255) 1.083RYR2, TGFB3, JUP
regulation of RNA metabolic process (GO:0051252) 1.523JUP, TGFB3, RYR2
regulation of transcription, DNA-templated (GO:0006355) 1.563RYR2, TGFB3, JUP
single-organism organelle organization (GO:1902589) 2.683JUP, PKP2, DSP
regulation of macromolecule biosynthetic process (GO:0010556) 1.433JUP, TGFB3, RYR2
muscle tissue morphogenesis (GO:0060415) 5.623RYR2, PKP2, DSP
cytoskeleton organization (GO:0007010) 3.223JUP, PKP2, DSP
negative regulation of cellular process (GO:0048523) 1.413RYR2, TGFB3, PKP2
positive regulation of cellular process (GO:0048522) 1.33JUP, TGFB3, RYR2
regulation of intracellular protein transport (GO:0033157) 3.82JUP, TGFB3
protein localization (GO:0008104) 2.362TGFB3, DSP
positive regulation of intracellular transport (GO:0032388) 4.082JUP, TGFB3
regulation of intracellular transport (GO:0032386) 3.582JUP, TGFB3
positive regulation of response to stimulus (GO:0048584) 2.182JUP, TGFB3
regulation of response to stimulus (GO:0048583) 1.542JUP, TGFB3
cell surface receptor signaling pathway (GO:0007166) 2.092RYR2, TGFB3
enzyme linked receptor protein signaling pathway (GO:0007167) 3.242RYR2, TGFB3
action potential (GO:0001508) 5.422RYR2, PKP2
detection of chemical stimulus (GO:0009593) 3.492RYR2, TGFB3
establishment of protein localization to plasma membrane (GO:0090002) 5.22JUP, PKP2
regulation of signal transduction (GO:0009966) 1.842JUP, TGFB3
positive regulation of signal transduction (GO:0009967) 2.52JUP, TGFB3
response to wounding (GO:0009611) 4.392TGFB3, DSP
response to mechanical stimulus (GO:0009612) 4.412JUP, RYR2
positive regulation of protein import (GO:1904591) 5.082JUP, TGFB3
macromolecule localization (GO:0033036) 2.342TGFB3, DSP
cell-cell adhesion via plasma-membrane adhesion molecules (GO:0098742) 4.392DSC2, DSG2
transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178) 4.62RYR2, TGFB3
positive regulation of signaling (GO:0023056) 2.412JUP, TGFB3
single organism reproductive process (GO:0044702) 2.732TGFB3, DSG2
intermediate filament organization (GO:0045109) 6.732PKP2, DSP
intermediate filament cytoskeleton organization (GO:0045104) 6.042PKP2, DSP
response to organonitrogen compound (GO:0010243) 3.22JUP, RYR2
intermediate filament-based process (GO:0045103) 6.022PKP2, DSP
response to hormone (GO:0009725) 3.332TGFB3, DSG2
regulation of protein import (GO:1904589) 4.522JUP, TGFB3
chemical homeostasis (GO:0048878) 2.972RYR2, PKP2
cellular component assembly (GO:0022607) 2.142JUP, PKP2
regulation of protein targeting (GO:1903533) 4.02JUP, TGFB3
positive regulation of protein transport (GO:0051222) 3.612JUP, TGFB3
regulation of protein transport (GO:0051223) 3.122JUP, TGFB3
response to hypoxia (GO:0001666) 4.132RYR2, TGFB3
positive regulation of catalytic activity (GO:0043085) 2.42RYR2, TGFB3
regulation of establishment of protein localization (GO:0070201) 3.022JUP, TGFB3
regulation of catalytic activity (GO:0050790) 1.972RYR2, TGFB3
transport (GO:0006810) 1.512RYR2, TGFB3
tissue development (GO:0009888) 3.272DSP, DSG2
wound healing (GO:0042060) 5.132TGFB3, DSP
positive regulation of protein import into nucleus (GO:0042307) 5.112JUP, TGFB3
regulation of protein import into nucleus (GO:0042306) 4.542JUP, TGFB3
regulation of protein localization to nucleus (GO:1900180) 4.342JUP, TGFB3
positive regulation of protein localization to nucleus (GO:1900182) 4.872JUP, TGFB3
response to decreased oxygen levels (GO:0036293) 4.092RYR2, TGFB3
response to nitrogen compound (GO:1901698) 3.122JUP, RYR2
cellular response to nitrogen compound (GO:1901699) 3.792JUP, RYR2
positive regulation of nucleocytoplasmic transport (GO:0046824) 4.932JUP, TGFB3
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.242RYR2, TGFB3
regulation of nucleocytoplasmic transport (GO:0046822) 4.332JUP, TGFB3
establishment of localization in cell (GO:0051649) 2.472RYR2, TGFB3
regulation of cellular component organization (GO:0051128) 2.012PKP2, TGFB3
regulation of cellular protein localization (GO:1903827) 3.432JUP, TGFB3
cell-cell junction assembly (GO:0007043) 5.422JUP, PKP2
cellular response to chemical stimulus (GO:0070887) 2.572JUP, RYR2
cell communication by electrical coupling (GO:0010644) 7.022RYR2, PKP2
positive regulation of cell communication (GO:0010647) 2.412JUP, TGFB3
positive regulation of establishment of protein localization (GO:1904951) 3.492JUP, TGFB3
positive regulation of cellular protein localization (GO:1903829) 3.852JUP, TGFB3
regulation of protein localization (GO:0032880) 2.882JUP, TGFB3
ventricular cardiac muscle cell action potential (GO:0086005) 7.022RYR2, PKP2
cardiac muscle cell action potential (GO:0086001) 6.332RYR2, PKP2
cardiac muscle cell action potential involved in contraction (GO:0086002) 6.472RYR2, PKP2
positive regulation of multicellular organismal process (GO:0051240) 2.492RYR2, TGFB3
cellular response to endogenous stimulus (GO:0071495) 3.332JUP, RYR2
negative regulation of cell proliferation (GO:0008285) 3.262PKP2, TGFB3
establishment of protein localization to organelle (GO:0072594) 3.922RYR2, TGFB3
positive regulation of ion transport (GO:0043270) 4.362RYR2, PKP2
cell-cell signaling involved in cardiac conduction (GO:0086019) 8.122RYR2, PKP2
cell junction assembly (GO:0034329) 4.862JUP, PKP2
cellular response to organic cyclic compound (GO:0071407) 3.932JUP, RYR2
response to progesterone (GO:0032570) 5.842TGFB3, DSG2
response to steroid hormone (GO:0048545) 4.242TGFB3, DSG2
homeostatic process (GO:0042592) 2.612RYR2, PKP2
cell communication by electrical coupling involved in cardiac conduction (GO:0086064) 7.162RYR2, PKP2
cell communication involved in cardiac conduction (GO:0086065) 6.732RYR2, PKP2
multicellular organism development (GO:0007275) 2.542RYR2, TGFB3
regulation of ion transport (GO:0043269) 3.42RYR2, PKP2
response to lipid (GO:0033993) 3.112TGFB3, DSG2
cellular response to organonitrogen compound (GO:0071417) 3.872JUP, RYR2
cellular response to organic substance (GO:0071310) 2.782JUP, RYR2
skin development (GO:0043588) 5.842JUP, DSP
embryonic morphogenesis (GO:0048598) 3.722RYR2, TGFB3
positive regulation of intracellular protein transport (GO:0090316) 4.192JUP, TGFB3
regulation of metal ion transport (GO:0010959) 3.942RYR2, PKP2
reproductive process (GO:0022414) 2.552TGFB3, DSG2
single-organism transport (GO:0044765) 2.182RYR2, TGFB3
desmosome assembly (GO:0002159) 8.342JUP, PKP2
cell-cell signaling (GO:0007267) 3.352RYR2, PKP2
homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156) 4.682DSC2, DSG2
response to oxygen levels (GO:0070482) 4.022RYR2, TGFB3
cellular response to oxygen-containing compound (GO:1901701) 3.222JUP, RYR2
establishment of protein localization to membrane (GO:0090150) 4.142JUP, PKP2
regulation of cell differentiation (GO:0045595) 2.422PKP2, TGFB3
regulation of cellular component biogenesis (GO:0044087) 3.082PKP2, TGFB3
response to ketone (GO:1901654) 4.532TGFB3, DSG2

NET-GE enrichment

Term New enriched termICP valueGenes
regulation of membrane potential (GO:0042391) -3.890.0RYR2, DSC2, DSG2, JUP, PKP2, DSP
single organismal cell-cell adhesion (GO:0016337) -3.690.0DSP, CTNNA3, JUP, PKP2, DSC2
regulation of multicellular organismal process (GO:0051239) -1.870.005RYR2, DSC2, TGFB3, DSG2, JUP, PKP2, DSP
multicellular organismal signaling (GO:0035637) -5.360.0DSP, JUP, PKP2, DSC2, DSG2
ventricular cardiac muscle tissue morphogenesis (GO:0055010) -6.070.0RYR2, PKP2, DSP
adherens junction organization (GO:0034332) -5.480.003JUP, PKP2, DSP
cell junction organization (GO:0034330) -4.510.001JUP, TGFB3, PKP2, DSP
cell adhesion (GO:0007155) -2.820.001DSC2, CTNNA3, DSG2, JUP, PKP2, DSP
signaling (GO:0023052) -3.250.0RYR2, DSC2, DSG2, JUP, PKP2, DSP
bundle of His cell to Purkinje myocyte communication (GO:0086069) NEW9.040.0DSP, JUP, PKP2, DSC2, DSG2
action potential (GO:0001508) -5.420.0RYR2, DSC2, DSG2, JUP, PKP2, DSP
cell communication by electrical coupling (GO:0010644) -7.020.012RYR2, PKP2
cell communication by electrical coupling involved in cardiac conduction (GO:0086064) -7.160.029RYR2, PKP2
cell communication involved in cardiac conduction (GO:0086065) -6.730.0RYR2, DSC2, DSG2, JUP, PKP2, DSP
cellular component disassembly involved in execution phase of apoptosis (GO:0006921) NEW6.470.014JUP, DSP, DSG2
ventricular cardiac muscle cell action potential (GO:0086005) -7.020.0RYR2, DSC2, DSG2, JUP, PKP2, DSP
cardiac muscle cell action potential involved in contraction (GO:0086002) -6.470.0RYR2, DSC2, DSG2, JUP, PKP2, DSP
cardiac muscle cell action potential (GO:0086001) -6.330.0RYR2, DSC2, DSG2, JUP, PKP2, DSP
regulation of system process (GO:0044057) -3.530.0RYR2, DSC2, TGFB3, DSG2, JUP, PKP2, DSP
regulation of heart rate (GO:0002027) -5.290.0RYR2, DSC2, DSG2, JUP, PKP2, DSP
tissue morphogenesis (GO:0048729) -3.870.01JUP, PKP2, RYR2, DSP
regulation of biological quality (GO:0065008) -1.680.02RYR2, DSC2, TGFB3, DSG2, JUP, PKP2, DSP
gap junction assembly (GO:0016264) NEW7.650.01JUP, PKP2
single organism cell adhesion (GO:0098602) -3.630.026DSP, CTNNA3, JUP, PKP2, DSC2
cardiac conduction (GO:0061337) -5.540.0DSP, JUP, PKP2, DSC2, DSG2
cardiac muscle tissue morphogenesis (GO:0055008) -5.80.001JUP, PKP2, RYR2, DSP
regulation of heart contraction (GO:0008016) -4.350.0RYR2, DSC2, DSG2, JUP, PKP2, DSP
cell-cell signaling involved in cardiac conduction (GO:0086019) -8.120.001RYR2, PKP2
intermediate filament bundle assembly (GO:0045110) NEW7.940.008PKP2, DSP
cellular component disassembly (GO:0022411) NEW3.520.039DSP, JUP, TGFB3, DSC2, DSG2
cell-cell junction organization (GO:0045216) -4.660.0JUP, TGFB3, PKP2, DSP
desmosome assembly (GO:0002159) -8.340.001JUP, PKP2
desmosome organization (GO:0002934) -7.530.0JUP, PKP2, DSP
cell communication (GO:0007154) -3.040.0RYR2, DSC2, DSG2, JUP, PKP2, DSP
single organism signaling (GO:0044700) -3.250.0RYR2, DSC2, DSG2, JUP, PKP2, DSP
biological adhesion (GO:0022610) -2.810.001DSC2, CTNNA3, DSG2, JUP, PKP2, DSP
intermediate filament organization (GO:0045109) -6.730.016PKP2, DSP
regulation of heart rate by cardiac conduction (GO:0086091) -6.330.0DSP, JUP, PKP2, DSC2, DSG2
muscle tissue morphogenesis (GO:0060415) -5.620.001JUP, PKP2, RYR2, DSP
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.119RYR2, CTNNA3, DSC2, TGFB3, TMEM43, DSG2, JUP, PKP2, DSP
organelle (GO:0043226) 0.49RYR2, CTNNA3, DSC2, TGFB3, TMEM43, DSG2, JUP, PKP2, DSP
intracellular part (GO:0044424) 0.288RYR2, CTNNA3, DSC2, TGFB3, TMEM43, JUP, PKP2, DSP
membrane part (GO:0044425) 0.958RYR2, DSC2, TGFB3, TMEM43, DSG2, JUP, PKP2, DSP
membrane (GO:0016020) 0.688RYR2, DSC2, TGFB3, TMEM43, DSG2, JUP, PKP2, DSP
membrane-bounded organelle (GO:0043227) 0.478RYR2, DSC2, TGFB3, TMEM43, DSG2, JUP, PKP2, DSP
intracellular organelle (GO:0043229) 0.517RYR2, CTNNA3, TGFB3, TMEM43, JUP, PKP2, DSP
plasma membrane (GO:0005886) 1.397RYR2, DSC2, TGFB3, DSG2, JUP, PKP2, DSP
intracellular membrane-bounded organelle (GO:0043231) 0.66RYR2, TGFB3, TMEM43, JUP, PKP2, DSP
anchoring junction (GO:0070161) 3.616DSC2, CTNNA3, DSG2, JUP, PKP2, DSP
membrane-bounded vesicle (GO:0031988) 1.716RYR2, DSC2, TGFB3, DSG2, JUP, DSP
intracellular organelle part (GO:0044446) 0.816RYR2, TGFB3, TMEM43, JUP, PKP2, DSP
cell junction (GO:0030054) 2.756DSC2, CTNNA3, DSG2, JUP, PKP2, DSP
cell-cell junction (GO:0005911) 3.856DSC2, CTNNA3, DSG2, JUP, PKP2, DSP
extracellular region part (GO:0044421) 1.576RYR2, DSC2, TGFB3, DSG2, JUP, DSP
organelle part (GO:0044422) 0.796RYR2, TGFB3, TMEM43, JUP, PKP2, DSP
vesicle (GO:0031982) 1.646RYR2, DSC2, TGFB3, DSG2, JUP, DSP
extracellular organelle (GO:0043230) 1.895DSP, JUP, RYR2, DSG2, DSC2
extracellular exosome (GO:0070062) 1.895DSP, JUP, RYR2, DSG2, DSC2
cell-cell contact zone (GO:0044291) 5.695DSP, JUP, PKP2, DSC2, DSG2
integral component of membrane (GO:0016021) 1.145RYR2, PKP2, DSC2, DSG2, TMEM43
desmosome (GO:0030057) 6.585DSP, JUP, PKP2, DSC2, DSG2
intercalated disc (GO:0014704) 5.935DSP, JUP, PKP2, DSC2, DSG2
cytoplasmic part (GO:0044444) 0.825RYR2, TGFB3, JUP, DSC2, TMEM43
adherens junction (GO:0005912) 3.665DSP, CTNNA3, JUP, PKP2, DSC2
extracellular vesicle (GO:1903561) 1.895DSP, JUP, RYR2, DSG2, DSC2
nucleus (GO:0005634) 1.075JUP, TGFB3, PKP2, DSP, TMEM43
intrinsic component of membrane (GO:0031224) 1.135RYR2, PKP2, DSC2, DSG2, TMEM43
cytoplasm (GO:0005737) 1.014JUP, TGFB3, CTNNA3, DSP
cell-cell adherens junction (GO:0005913) 5.814CTNNA3, JUP, DSP, DSC2
plasma membrane part (GO:0044459) 1.954JUP, TGFB3, DSP, DSG2
cytoskeleton (GO:0005856) 2.553JUP, CTNNA3, DSP
plasma membrane region (GO:0098590) 2.973JUP, DSP, DSG2
supramolecular fiber (GO:0099512) 3.313JUP, PKP2, DSP
polymeric cytoskeletal fiber (GO:0099513) 3.313JUP, PKP2, DSP
intracellular non-membrane-bounded organelle (GO:0043232) 1.763JUP, CTNNA3, DSP
fascia adherens (GO:0005916) 7.53JUP, CTNNA3, DSP
non-membrane-bounded organelle (GO:0043228) 1.763JUP, CTNNA3, DSP
nuclear part (GO:0044428) 1.553JUP, PKP2, TMEM43
cytoskeletal part (GO:0044430) 2.493JUP, PKP2, DSP
intermediate filament (GO:0005882) 4.483JUP, PKP2, DSP
protein complex (GO:0043234) 1.512JUP, RYR2
organelle membrane (GO:0031090) 1.972RYR2, TMEM43
membrane protein complex (GO:0098796) 2.842JUP, RYR2
lateral plasma membrane (GO:0016328) 5.892JUP, DSG2
endoplasmic reticulum (GO:0005783) 2.562RYR2, TMEM43
organelle lumen (GO:0043233) 3.052TMEM43, TGFB3
cytoplasmic vesicle (GO:0031410) 2.872TGFB3, DSC2
cell surface (GO:0009986) 3.442TGFB3, DSG2
membrane-enclosed lumen (GO:0031974) 3.052TMEM43, TGFB3
endoplasmic reticulum part (GO:0044432) 2.732RYR2, TMEM43
intracellular organelle lumen (GO:0070013) 3.052TMEM43, TGFB3
intracellular vesicle (GO:0097708) 2.862TGFB3, DSC2
macromolecular complex (GO:0032991) 1.352JUP, RYR2
Z disc (GO:0030018) 5.112JUP, RYR2
contractile fiber part (GO:0044449) 4.532JUP, RYR2

NET-GE enrichment

Term New enriched termICP valueGenes
lateral plasma membrane (GO:0016328) -5.890.017JUP, DSG2
cell-cell contact zone (GO:0044291) -5.690.0DSP, JUP, PKP2, RYR2, DSC2
anchoring junction (GO:0070161) -3.610.0RYR2, CTNNA3, DSC2, DSG2, JUP, PKP2, DSP
intercalated disc (GO:0014704) -5.930.0DSP, JUP, PKP2, RYR2, DSC2
fascia adherens (GO:0005916) -7.50.0JUP, CTNNA3, DSP
cell-cell adherens junction (GO:0005913) -5.810.0CTNNA3, JUP, DSP, DSC2
adherens junction (GO:0005912) -3.660.001RYR2, DSC2, CTNNA3, JUP, PKP2, DSP
cell-cell junction (GO:0005911) -3.850.0DSC2, CTNNA3, DSG2, JUP, PKP2, DSP
plasma membrane (GO:0005886) -1.390.035RYR2, DSC2, TGFB3, DSG2, JUP, PKP2, DSP
desmosome (GO:0030057) -6.580.0DSP, JUP, PKP2, DSC2, DSG2
cell junction (GO:0030054) -2.750.0RYR2, CTNNA3, DSC2, DSG2, JUP, PKP2, DSP