Disease table of ATRIAL STANDSTILL 1 OMIM ID: 108770

Gene-disease associations table

GeneAssociated with ATRIAL STANDSTILL 1 inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SCN5AHUMSAVARHGNC link3p22.211272120, 108770, PS113900, PS604772, PS608583, PS192500, PS115200, 603829, 115000, PS601144, PS608567
GJA5OMIM, HUMSAVARHGNC link1q21.22PS608583, 108770

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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
GJA5YES1TBX50
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
transporter activity (GO:0005215) 2.572SCN5A, GJA5
transmembrane transporter activity (GO:0022857) 2.822SCN5A, GJA5
channel activity (GO:0015267) 3.62SCN5A, GJA5
binding (GO:0005488) 0.182SCN5A, GJA5
protein binding (GO:0005515) 0.462SCN5A, GJA5
passive transmembrane transporter activity (GO:0022803) 3.62SCN5A, GJA5

NET-GE enrichment

Term New enriched termICP valueGenes
channel activity (GO:0015267) -3.60.027SCN5A, GJA5
passive transmembrane transporter activity (GO:0022803) -3.60.027SCN5A, GJA5
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
regulation of membrane potential (GO:0042391) 3.892SCN5A, GJA5
multicellular organismal signaling (GO:0035637) 5.362SCN5A, GJA5
regulation of transport (GO:0051049) 2.242SCN5A, GJA5
regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307) 6.842SCN5A, GJA5
regulation of membrane repolarization (GO:0060306) 6.42SCN5A, GJA5
regulation of homeostatic process (GO:0032844) 3.652SCN5A, GJA5
regulation of striated muscle contraction (GO:0006942) 5.382SCN5A, GJA5
signaling (GO:0023052) 3.252SCN5A, GJA5
AV node cell to bundle of His cell communication (GO:0086067) 8.342SCN5A, GJA5
action potential (GO:0001508) 5.422SCN5A, GJA5
regulation of ion transmembrane transport (GO:0034765) 3.772SCN5A, GJA5
localization (GO:0051179) 1.42SCN5A, GJA5
anatomical structure morphogenesis (GO:0009653) 2.532SCN5A, GJA5
regulation of biological process (GO:0050789) 0.452SCN5A, GJA5
regulation of transmembrane transport (GO:0034762) 3.742SCN5A, GJA5
regulation of cardiac muscle cell contraction (GO:0086004) 6.512SCN5A, GJA5
ventricular cardiac muscle cell action potential (GO:0086005) 7.022SCN5A, GJA5
regulation of localization (GO:0032879) 1.942SCN5A, GJA5
cardiac muscle cell action potential (GO:0086001) 6.332SCN5A, GJA5
cardiac muscle cell action potential involved in contraction (GO:0086002) 6.472SCN5A, GJA5
cardiac conduction (GO:0061337) 5.542SCN5A, GJA5
positive regulation of multicellular organismal process (GO:0051240) 2.492SCN5A, GJA5
transmembrane transport (GO:0055085) 2.722SCN5A, GJA5
regulation of heart rate (GO:0002027) 5.292SCN5A, GJA5
regulation of ion homeostasis (GO:2000021) 4.442SCN5A, GJA5
biological regulation (GO:0065007) 0.392SCN5A, GJA5
single-organism process (GO:0044699) 0.482SCN5A, GJA5
regulation of action potential (GO:0098900) 6.072SCN5A, GJA5
positive regulation of biological process (GO:0048518) 1.22SCN5A, GJA5
regulation of actin filament-based process (GO:0032970) 3.972SCN5A, GJA5
regulation of biological quality (GO:0065008) 1.682SCN5A, GJA5
monovalent inorganic cation transport (GO:0015672) 3.742SCN5A, GJA5
multicellular organismal process (GO:0032501) 1.452SCN5A, GJA5
developmental process (GO:0032502) 1.362SCN5A, GJA5
regulation of heart contraction (GO:0008016) 4.352SCN5A, GJA5
SA node cell action potential (GO:0086015) 7.942SCN5A, GJA5
regulation of actin filament-based movement (GO:1903115) 6.332SCN5A, GJA5
regulation of muscle contraction (GO:0006937) 4.752SCN5A, GJA5
cation transport (GO:0006812) 3.112SCN5A, GJA5
ion transport (GO:0006811) 2.662SCN5A, GJA5
transport (GO:0006810) 1.512SCN5A, GJA5
regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373) 7.782SCN5A, GJA5
regulation of cellular process (GO:0050794) 0.52SCN5A, GJA5
single-organism developmental process (GO:0044767) 1.492SCN5A, GJA5
positive regulation of blood circulation (GO:1903524) 5.162SCN5A, GJA5
regulation of blood circulation (GO:1903522) 4.052SCN5A, GJA5
regulation of muscle system process (GO:0090257) 4.512SCN5A, GJA5
regulation of multicellular organismal process (GO:0051239) 1.872SCN5A, GJA5
cell communication (GO:0007154) 3.042SCN5A, GJA5
establishment of localization (GO:0051234) 1.482SCN5A, GJA5
regulation of cardiac muscle contraction (GO:0055117) 5.572SCN5A, GJA5
regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371) 7.652SCN5A, GJA5
system process (GO:0003008) 2.32SCN5A, GJA5
single organism signaling (GO:0044700) 3.252SCN5A, GJA5
regulation of cellular component movement (GO:0051270) 3.082SCN5A, GJA5
regulation of system process (GO:0044057) 3.532SCN5A, GJA5
single-multicellular organism process (GO:0044707) 1.782SCN5A, GJA5
anatomical structure development (GO:0048856) 1.582SCN5A, GJA5
single-organism cellular process (GO:0044763) 0.652SCN5A, GJA5
regulation of membrane depolarization (GO:0003254) 6.042SCN5A, GJA5
regulation of heart rate by cardiac conduction (GO:0086091) 6.332SCN5A, GJA5
regulation of cardiac muscle cell membrane repolarization (GO:0099623) 6.682SCN5A, GJA5
regulation of ion transport (GO:0043269) 3.42SCN5A, GJA5
metal ion transport (GO:0030001) 3.362SCN5A, GJA5
cellular process (GO:0009987) 0.262SCN5A, GJA5
cell communication involved in cardiac conduction (GO:0086065) 6.732SCN5A, GJA5
positive regulation of cellular process (GO:0048522) 1.32SCN5A, GJA5

NET-GE enrichment

Term New enriched termICP valueGenes
regulation of membrane potential (GO:0042391) -3.890.029SCN5A, GJA5
regulation of homeostatic process (GO:0032844) -3.650.042SCN5A, GJA5
regulation of striated muscle contraction (GO:0006942) -5.380.016SCN5A, GJA5
bundle of His cell to Purkinje myocyte communication (GO:0086069) NEW9.040.0SCN5A, GJA5
action potential (GO:0001508) -5.420.002SCN5A, GJA5
AV node cell to bundle of His cell communication (GO:0086067) -8.340.0SCN5A, GJA5
cell communication involved in cardiac conduction (GO:0086065) -6.730.001SCN5A, GJA5
cardiac muscle cell action potential (GO:0086001) -6.330.0SCN5A, GJA5
cardiac muscle cell action potential involved in contraction (GO:0086002) -6.470.0SCN5A, GJA5
regulation of cardiac muscle contraction (GO:0055117) -5.570.009SCN5A, GJA5
regulation of muscle contraction (GO:0006937) -4.750.006SCN5A, GJA5
regulation of heart contraction (GO:0008016) -4.350.008SCN5A, GJA5
regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371) -7.650.0SCN5A, GJA5
regulation of muscle system process (GO:0090257) -4.510.009SCN5A, GJA5
atrial cardiac muscle cell action potential (GO:0086014) NEW7.650.0SCN5A, GJA5
regulation of membrane depolarization (GO:0003254) -6.040.006SCN5A, GJA5
regulation of ion homeostasis (GO:2000021) -4.440.01SCN5A, GJA5
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein complex (GO:0043234) 1.512SCN5A, GJA5
plasma membrane protein complex (GO:0098797) 3.552SCN5A, GJA5
macromolecular complex (GO:0032991) 1.352SCN5A, GJA5
integral component of membrane (GO:0016021) 1.142SCN5A, GJA5
membrane (GO:0016020) 0.682SCN5A, GJA5
cell part (GO:0044464) 0.112SCN5A, GJA5
intercalated disc (GO:0014704) 5.932SCN5A, GJA5
membrane protein complex (GO:0098796) 2.842SCN5A, GJA5
intrinsic component of membrane (GO:0031224) 1.132SCN5A, GJA5
cell-cell junction (GO:0005911) 3.852SCN5A, GJA5
plasma membrane (GO:0005886) 1.392SCN5A, GJA5
membrane part (GO:0044425) 0.952SCN5A, GJA5
plasma membrane part (GO:0044459) 1.952SCN5A, GJA5
cell-cell contact zone (GO:0044291) 5.692SCN5A, GJA5
cell junction (GO:0030054) 2.752SCN5A, GJA5

NET-GE enrichment

Term New enriched termICP valueGenes
intercalated disc (GO:0014704) -5.930.0SCN5A, GJA5
cell-cell contact zone (GO:0044291) -5.690.002SCN5A, GJA5
cell-cell junction (GO:0005911) -3.850.011SCN5A, GJA5