Disease table of HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 OMIM ID: 170400

Gene-disease associations table

GeneAssociated with HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SCN4AClinVarHGNC link17q23.36PS601462, 170400, 170500, 613345, 608390, 168300
CACNA1SClinVar, OMIM, HUMSAVARHGNC link1q32.13170400, 188580, PS145600

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

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Axon guidanceR-HSA-4224753.932CACNA1S, SCN4A
Developmental BiologyR-HSA-12667383.482CACNA1S, SCN4A

NET-GE enrichment

Term New enriched termICP valueGenes
Axon guidance (R-HSA-422475) -3.930.03CACNA1S, SCN4A
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) 2.92CACNA1S, SCN4A
inorganic cation transmembrane transporter activity (GO:0022890) 3.492CACNA1S, SCN4A
substrate-specific transporter activity (GO:0022892) 2.722CACNA1S, SCN4A
cation channel activity (GO:0005261) 4.042CACNA1S, SCN4A
voltage-gated ion channel activity (GO:0005244) 4.492CACNA1S, SCN4A
transporter activity (GO:0005215) 2.572CACNA1S, SCN4A
ion channel activity (GO:0005216) 3.712CACNA1S, SCN4A
cation transmembrane transporter activity (GO:0008324) 3.322CACNA1S, SCN4A
ion transmembrane transporter activity (GO:0015075) 3.042CACNA1S, SCN4A
voltage-gated channel activity (GO:0022832) 4.492CACNA1S, SCN4A
transmembrane transporter activity (GO:0022857) 2.822CACNA1S, SCN4A
channel activity (GO:0015267) 3.62CACNA1S, SCN4A
gated channel activity (GO:0022836) 3.962CACNA1S, SCN4A
passive transmembrane transporter activity (GO:0022803) 3.62CACNA1S, SCN4A
metal ion transmembrane transporter activity (GO:0046873) 3.712CACNA1S, SCN4A
substrate-specific channel activity (GO:0022838) 3.672CACNA1S, SCN4A

NET-GE enrichment

Term New enriched termICP valueGenes
inorganic cation transmembrane transporter activity (GO:0022890) -3.490.026CACNA1S, SCN4A
voltage-gated ion channel activity (GO:0005244) -4.490.018CACNA1S, SCN4A
cation channel activity (GO:0005261) -4.040.05CACNA1S, SCN4A
ion channel activity (GO:0005216) -3.710.017CACNA1S, SCN4A
cation transmembrane transporter activity (GO:0008324) -3.320.04CACNA1S, SCN4A
voltage-gated channel activity (GO:0022832) -4.490.003CACNA1S, SCN4A
channel activity (GO:0015267) -3.60.019CACNA1S, SCN4A
gated channel activity (GO:0022836) -3.960.011CACNA1S, SCN4A
passive transmembrane transporter activity (GO:0022803) -3.60.019CACNA1S, SCN4A
metal ion transmembrane transporter activity (GO:0046873) -3.710.017CACNA1S, SCN4A
substrate-specific channel activity (GO:0022838) -3.670.018CACNA1S, SCN4A
voltage-gated cation channel activity (GO:0022843) NEW4.830.012CACNA1S, SCN4A
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
regulation of membrane potential (GO:0042391) 3.892CACNA1S, SCN4A
regulation of transport (GO:0051049) 2.242CACNA1S, SCN4A
membrane depolarization (GO:0051899) 5.622CACNA1S, SCN4A
regulation of ion transmembrane transport (GO:0034765) 3.772CACNA1S, SCN4A
regulation of localization (GO:0032879) 1.942CACNA1S, SCN4A
regulation of biological process (GO:0050789) 0.452CACNA1S, SCN4A
regulation of ion transport (GO:0043269) 3.42CACNA1S, SCN4A
membrane depolarization during action potential (GO:0086010) 6.072CACNA1S, SCN4A
localization (GO:0051179) 1.42CACNA1S, SCN4A
biological regulation (GO:0065007) 0.392CACNA1S, SCN4A
inorganic cation transmembrane transport (GO:0098662) 3.552CACNA1S, SCN4A
inorganic ion transmembrane transport (GO:0098660) 3.382CACNA1S, SCN4A
regulation of biological quality (GO:0065008) 1.682CACNA1S, SCN4A
multicellular organismal process (GO:0032501) 1.452CACNA1S, SCN4A
muscle contraction (GO:0006936) 4.372CACNA1S, SCN4A
cation transport (GO:0006812) 3.112CACNA1S, SCN4A
ion transport (GO:0006811) 2.662CACNA1S, SCN4A
transport (GO:0006810) 1.512CACNA1S, SCN4A
ion transmembrane transport (GO:0034220) 3.082CACNA1S, SCN4A
metal ion transport (GO:0030001) 3.362CACNA1S, SCN4A
establishment of localization (GO:0051234) 1.482CACNA1S, SCN4A
transmembrane transport (GO:0055085) 2.722CACNA1S, SCN4A
system process (GO:0003008) 2.32CACNA1S, SCN4A
muscle system process (GO:0003012) 4.182CACNA1S, SCN4A
regulation of transmembrane transport (GO:0034762) 3.742CACNA1S, SCN4A
cation transmembrane transport (GO:0098655) 3.432CACNA1S, SCN4A

NET-GE enrichment

Term New enriched termICP valueGenes
regulation of membrane potential (GO:0042391) -3.890.016CACNA1S, SCN4A
muscle contraction (GO:0006936) -4.370.009CACNA1S, SCN4A
membrane depolarization (GO:0051899) -5.620.04CACNA1S, SCN4A
muscle system process (GO:0003012) -4.180.013CACNA1S, SCN4A
regulation of ion transmembrane transport (GO:0034765) -3.770.023CACNA1S, SCN4A
membrane depolarization during action potential (GO:0086010) -6.070.0CACNA1S, SCN4A
regulation of transmembrane transport (GO:0034762) -3.740.025CACNA1S, SCN4A
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein complex (GO:0043234) 1.512CACNA1S, SCN4A
transmembrane transporter complex (GO:1902495) 4.062CACNA1S, SCN4A
cell part (GO:0044464) 0.112CACNA1S, SCN4A
integral component of membrane (GO:0016021) 1.142CACNA1S, SCN4A
membrane (GO:0016020) 0.682CACNA1S, SCN4A
transporter complex (GO:1990351) 4.042CACNA1S, SCN4A
plasma membrane protein complex (GO:0098797) 3.552CACNA1S, SCN4A
membrane protein complex (GO:0098796) 2.842CACNA1S, SCN4A
ion channel complex (GO:0034702) 4.182CACNA1S, SCN4A
cation channel complex (GO:0034703) 4.692CACNA1S, SCN4A
membrane part (GO:0044425) 0.952CACNA1S, SCN4A
macromolecular complex (GO:0032991) 1.352CACNA1S, SCN4A
plasma membrane part (GO:0044459) 1.952CACNA1S, SCN4A
intrinsic component of membrane (GO:0031224) 1.132CACNA1S, SCN4A

NET-GE enrichment

Term New enriched termICP valueGenes
transmembrane transporter complex (GO:1902495) -4.060.007CACNA1S, SCN4A
T-tubule (GO:0030315) NEW6.090.001CACNA1S, SCN4A
transporter complex (GO:1990351) -4.040.007CACNA1S, SCN4A
ion channel complex (GO:0034702) -4.180.006CACNA1S, SCN4A
cation channel complex (GO:0034703) -4.690.002CACNA1S, SCN4A
contractile fiber part (GO:0044449) NEW4.530.036CACNA1S, SCN4A