Disease table of PROGRESSIVE FAMILIAL HEART BLOCK OMIM ID: PS113900

Gene-disease associations table

GeneAssociated with PROGRESSIVE FAMILIAL HEART BLOCK inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
TRPM4ClinVar, OMIM, HUMSAVARHGNC link19q13.332PS113900, PS604772
SCN5AClinVar, OMIM, HUMSAVARHGNC link3p22.211272120, 108770, PS113900, PS604772, PS608583, PS192500, PS115200, 603829, 115000, PS601144, PS608567

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
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
substrate-specific transmembrane transporter activity (GO:0022891) 2.92TRPM4, SCN5A
inorganic cation transmembrane transporter activity (GO:0022890) 3.492TRPM4, SCN5A
substrate-specific transporter activity (GO:0022892) 2.722TRPM4, SCN5A
cation channel activity (GO:0005261) 4.042TRPM4, SCN5A
sodium ion transmembrane transporter activity (GO:0015081) 4.832TRPM4, SCN5A
gated channel activity (GO:0022836) 3.962TRPM4, SCN5A
transporter activity (GO:0005215) 2.572TRPM4, SCN5A
ion channel activity (GO:0005216) 3.712TRPM4, SCN5A
cation transmembrane transporter activity (GO:0008324) 3.322TRPM4, SCN5A
transmembrane transporter activity (GO:0022857) 2.822TRPM4, SCN5A
ion transmembrane transporter activity (GO:0015075) 3.042TRPM4, SCN5A
monovalent inorganic cation transmembrane transporter activity (GO:0015077) 3.872TRPM4, SCN5A
channel activity (GO:0015267) 3.62TRPM4, SCN5A
binding (GO:0005488) 0.182TRPM4, SCN5A
protein binding (GO:0005515) 0.462TRPM4, SCN5A
passive transmembrane transporter activity (GO:0022803) 3.62TRPM4, SCN5A
metal ion transmembrane transporter activity (GO:0046873) 3.712TRPM4, SCN5A
substrate-specific channel activity (GO:0022838) 3.672TRPM4, SCN5A
sodium channel activity (GO:0005272) 6.132TRPM4, SCN5A
calmodulin binding (GO:0005516) 4.552TRPM4, SCN5A

NET-GE enrichment

Term New enriched termICP valueGenes
cation channel activity (GO:0005261) -4.040.017TRPM4, SCN5A
ion channel activity (GO:0005216) -3.710.034TRPM4, SCN5A
channel activity (GO:0015267) -3.60.039TRPM4, SCN5A
gated channel activity (GO:0022836) -3.960.022TRPM4, SCN5A
passive transmembrane transporter activity (GO:0022803) -3.60.039TRPM4, SCN5A
metal ion transmembrane transporter activity (GO:0046873) -3.710.034TRPM4, SCN5A
substrate-specific channel activity (GO:0022838) -3.670.036TRPM4, SCN5A
calmodulin binding (GO:0005516) -4.550.036TRPM4, SCN5A
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
regulation of membrane potential (GO:0042391) 3.892TRPM4, SCN5A
multicellular organismal signaling (GO:0035637) 5.362TRPM4, SCN5A
regulation of transport (GO:0051049) 2.242TRPM4, SCN5A
regulation of homeostatic process (GO:0032844) 3.652TRPM4, SCN5A
positive regulation of cell proliferation (GO:0008284) 3.012TRPM4, SCN5A
regulation of striated muscle contraction (GO:0006942) 5.382TRPM4, SCN5A
signaling (GO:0023052) 3.252TRPM4, SCN5A
localization (GO:0051179) 1.42TRPM4, SCN5A
regulation of biological process (GO:0050789) 0.452TRPM4, SCN5A
single-organism process (GO:0044699) 0.482TRPM4, SCN5A
regulation of cardiac muscle cell contraction (GO:0086004) 6.512TRPM4, SCN5A
regulation of localization (GO:0032879) 1.942TRPM4, SCN5A
cardiac conduction (GO:0061337) 5.542TRPM4, SCN5A
regulation of system process (GO:0044057) 3.532TRPM4, SCN5A
positive regulation of action potential (GO:0045760) 7.332TRPM4, SCN5A
positive regulation of multicellular organismal process (GO:0051240) 2.492TRPM4, SCN5A
regulation of muscle contraction (GO:0006937) 4.752TRPM4, SCN5A
transmembrane transport (GO:0055085) 2.722TRPM4, SCN5A
regulation of heart rate (GO:0002027) 5.292TRPM4, SCN5A
sodium ion transmembrane transport (GO:0035725) 5.232TRPM4, SCN5A
biological regulation (GO:0065007) 0.392TRPM4, SCN5A
inorganic cation transmembrane transport (GO:0098662) 3.552TRPM4, SCN5A
regulation of action potential (GO:0098900) 6.072TRPM4, SCN5A
inorganic ion transmembrane transport (GO:0098660) 3.382TRPM4, SCN5A
positive regulation of biological process (GO:0048518) 1.22TRPM4, SCN5A
regulation of actin filament-based process (GO:0032970) 3.972TRPM4, SCN5A
regulation of biological quality (GO:0065008) 1.682TRPM4, SCN5A
monovalent inorganic cation transport (GO:0015672) 3.742TRPM4, SCN5A
multicellular organismal process (GO:0032501) 1.452TRPM4, SCN5A
positive regulation of heart rate (GO:0010460) 6.592TRPM4, SCN5A
regulation of cell proliferation (GO:0042127) 2.412TRPM4, SCN5A
regulation of heart contraction (GO:0008016) 4.352TRPM4, SCN5A
regulation of actin filament-based movement (GO:1903115) 6.332TRPM4, SCN5A
positive regulation of transport (GO:0051050) 2.92TRPM4, SCN5A
cation transport (GO:0006812) 3.112TRPM4, SCN5A
ion transport (GO:0006811) 2.662TRPM4, SCN5A
transport (GO:0006810) 1.512TRPM4, SCN5A
sodium ion transport (GO:0006814) 4.752TRPM4, SCN5A
ion transmembrane transport (GO:0034220) 3.082TRPM4, SCN5A
positive regulation of blood circulation (GO:1903524) 5.162TRPM4, SCN5A
regulation of blood circulation (GO:1903522) 4.052TRPM4, SCN5A
regulation of muscle system process (GO:0090257) 4.512TRPM4, SCN5A
regulation of multicellular organismal process (GO:0051239) 1.872TRPM4, SCN5A
establishment of localization (GO:0051234) 1.482TRPM4, SCN5A
regulation of cardiac muscle contraction (GO:0055117) 5.572TRPM4, SCN5A
regulation of cellular process (GO:0050794) 0.52TRPM4, SCN5A
system process (GO:0003008) 2.32TRPM4, SCN5A
single organism signaling (GO:0044700) 3.252TRPM4, SCN5A
regulation of cellular component movement (GO:0051270) 3.082TRPM4, SCN5A
single-multicellular organism process (GO:0044707) 1.782TRPM4, SCN5A
response to stimulus (GO:0050896) 1.222TRPM4, SCN5A
single-organism cellular process (GO:0044763) 0.652TRPM4, SCN5A
regulation of membrane depolarization (GO:0003254) 6.042TRPM4, SCN5A
regulation of ion homeostasis (GO:2000021) 4.442TRPM4, SCN5A
positive regulation of heart contraction (GO:0045823) 6.152TRPM4, SCN5A
metal ion transport (GO:0030001) 3.362TRPM4, SCN5A
cellular process (GO:0009987) 0.262TRPM4, SCN5A
cation transmembrane transport (GO:0098655) 3.432TRPM4, SCN5A
positive regulation of cellular process (GO:0048522) 1.32TRPM4, SCN5A

NET-GE enrichment

Term New enriched termICP valueGenes
regulation of membrane potential (GO:0042391) -3.890.036TRPM4, SCN5A
regulation of heart contraction (GO:0008016) -4.350.01TRPM4, SCN5A
multicellular organismal signaling (GO:0035637) -5.360.001TRPM4, SCN5A
cardiac conduction (GO:0061337) -5.540.001TRPM4, SCN5A
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
endoplasmic reticulum (GO:0005783) 2.562TRPM4, SCN5A
integral component of membrane (GO:0016021) 1.142TRPM4, SCN5A
membrane (GO:0016020) 0.682TRPM4, SCN5A
cell part (GO:0044464) 0.112TRPM4, SCN5A
cytoplasmic part (GO:0044444) 0.822TRPM4, SCN5A
intracellular organelle (GO:0043229) 0.512TRPM4, SCN5A
organelle part (GO:0044422) 0.792TRPM4, SCN5A
plasma membrane (GO:0005886) 1.392TRPM4, SCN5A
intracellular part (GO:0044424) 0.282TRPM4, SCN5A
membrane part (GO:0044425) 0.952TRPM4, SCN5A
membrane-bounded organelle (GO:0043227) 0.472TRPM4, SCN5A
organelle (GO:0043226) 0.42TRPM4, SCN5A
intrinsic component of membrane (GO:0031224) 1.132TRPM4, SCN5A
intracellular membrane-bounded organelle (GO:0043231) 0.62TRPM4, SCN5A