Disease table of SEIZURES, FAMILIAL FEBRILE OMIM ID: PS121210

Gene-disease associations table

GeneAssociated with SEIZURES, FAMILIAL FEBRILE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SCN9AClinVar, OMIM, HUMSAVARHGNC link2q24.36PS121210, 243000, PS308350, 167400, PS604233, 133020
ADGRV1ClinVar, OMIMHGNC link5q14.32PS121210, PS276900
SCN1AClinVar, OMIM, HUMSAVARHGNC link2q24.35606369, PS604233, 609634, PS308350, PS121210
CPA6ClinVar, OMIM, HUMSAVARHGNC link8q13.22PS600512, PS121210
GABRG2ClinVar, OMIM, HUMSAVARHGNC link5q343PS121210, 607681, PS604233

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Common tandem groupNumber of genes in this tandem group associated to this diseaseGenes in this tandem group associated to this disease
Group 1382SCN9A, SCN1A
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
2q24.32SCN9A, SCN1A
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
2q242SCN9A, SCN1A
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
2q22SCN9A, SCN1A
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
5q2ADGRV1, GABRG2
2q2SCN9A, SCN1A
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
22SCN9A, SCN1A
52ADGRV1, GABRG2
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
SCN9AYES1USF10
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-4224753.932SCN9A, SCN1A
Interaction between L1 and AnkyrinsR-HSA-4450958.032SCN9A, SCN1A
L1CAM interactionsR-HSA-3737606.192SCN9A, SCN1A
Developmental BiologyR-HSA-12667383.482SCN9A, SCN1A

NET-GE enrichment

Term New enriched termICP valueGenes
Interaction between L1 and Ankyrins (R-HSA-445095) -8.030.001SCN9A, SCN1A
L1CAM interactions (R-HSA-373760) -6.190.018SCN9A, SCN1A
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.184SCN9A, GABRG2, SCN1A, CPA6
substrate-specific transmembrane transporter activity (GO:0022891) 2.93SCN1A, GABRG2, SCN9A
cation binding (GO:0043169) 1.43SCN1A, SCN9A, CPA6
substrate-specific transporter activity (GO:0022892) 2.723SCN9A, GABRG2, SCN1A
substrate-specific channel activity (GO:0022838) 3.673SCN1A, GABRG2, SCN9A
transporter activity (GO:0005215) 2.573SCN9A, GABRG2, SCN1A
ion channel activity (GO:0005216) 3.713SCN9A, GABRG2, SCN1A
ion binding (GO:0043167) 1.363SCN9A, SCN1A, CPA6
ion transmembrane transporter activity (GO:0015075) 3.043SCN1A, GABRG2, SCN9A
transmembrane transporter activity (GO:0022857) 2.823SCN9A, GABRG2, SCN1A
channel activity (GO:0015267) 3.63SCN9A, GABRG2, SCN1A
gated channel activity (GO:0022836) 3.963SCN1A, GABRG2, SCN9A
passive transmembrane transporter activity (GO:0022803) 3.63SCN9A, GABRG2, SCN1A
metal ion binding (GO:0046872) 1.413SCN9A, SCN1A, CPA6
inorganic cation transmembrane transporter activity (GO:0022890) 3.492SCN9A, SCN1A
cation channel activity (GO:0005261) 4.042SCN9A, SCN1A
sodium ion transmembrane transporter activity (GO:0015081) 4.832SCN1A, SCN9A
sodium ion binding (GO:0031402) 7.12SCN9A, SCN1A
cation transmembrane transporter activity (GO:0008324) 3.322SCN9A, SCN1A
alkali metal ion binding (GO:0031420) 6.692SCN1A, SCN9A
voltage-gated channel activity (GO:0022832) 4.492SCN1A, SCN9A
monovalent inorganic cation transmembrane transporter activity (GO:0015077) 3.872SCN9A, SCN1A
voltage-gated sodium channel activity (GO:0005248) 6.742SCN1A, SCN9A
sodium channel activity (GO:0005272) 6.132SCN1A, SCN9A
voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential (GO:1905030) 6.742SCN9A, SCN1A
voltage-gated ion channel activity (GO:0005244) 4.492SCN1A, SCN9A
metal ion transmembrane transporter activity (GO:0046873) 3.712SCN9A, SCN1A

NET-GE enrichment

Term New enriched termICP valueGenes
sodium channel activity (GO:0005272) -6.130.008SCN1A, SCN9A
sodium ion transmembrane transporter activity (GO:0015081) -4.830.035SCN1A, SCN9A
ion channel activity (GO:0005216) -3.710.007SCN9A, GABRG2, SCN1A
channel activity (GO:0015267) -3.60.009SCN9A, GABRG2, SCN1A
voltage-gated cation channel activity (GO:0022843) NEW4.830.041SCN9A, SCN1A
voltage-gated sodium channel activity (GO:0005248) -6.740.001SCN1A, SCN9A
passive transmembrane transporter activity (GO:0022803) -3.60.009SCN9A, GABRG2, SCN1A
substrate-specific channel activity (GO:0022838) -3.670.008SCN1A, GABRG2, SCN9A
gated channel activity (GO:0022836) -3.960.004SCN9A, GABRG2, SCN1A
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
multicellular organismal process (GO:0032501) 1.453SCN1A, GABRG2, SCN9A
single-multicellular organism process (GO:0044707) 1.783SCN9A, GABRG2, SCN1A
single-organism behavior (GO:0044708) 3.793SCN9A, GABRG2, SCN1A
ion transport (GO:0006811) 2.663SCN1A, GABRG2, SCN9A
transport (GO:0006810) 1.513SCN1A, GABRG2, SCN9A
behavior (GO:0007610) 3.473SCN1A, GABRG2, SCN9A
transmembrane transport (GO:0055085) 2.723SCN9A, GABRG2, SCN1A
ion transmembrane transport (GO:0034220) 3.083SCN9A, GABRG2, SCN1A
biological regulation (GO:0065007) 0.393SCN1A, GABRG2, SCN9A
inorganic ion transmembrane transport (GO:0098660) 3.383SCN9A, GABRG2, SCN1A
localization (GO:0051179) 1.43SCN9A, GABRG2, SCN1A
establishment of localization (GO:0051234) 1.483SCN1A, GABRG2, SCN9A
regulation of biological process (GO:0050789) 0.453SCN9A, GABRG2, SCN1A
single-organism process (GO:0044699) 0.483SCN1A, GABRG2, SCN9A
regulation of membrane potential (GO:0042391) 3.892SCN9A, SCN1A
regulation of transport (GO:0051049) 2.242SCN9A, SCN1A
neuronal action potential (GO:0019228) 6.42SCN1A, SCN9A
post-embryonic development (GO:0009791) 5.352GABRG2, SCN9A
membrane depolarization (GO:0051899) 5.622SCN9A, SCN1A
regulation of postsynaptic membrane potential (GO:0060078) 5.722SCN1A, SCN9A
action potential (GO:0001508) 5.422SCN1A, SCN9A
regulation of ion transmembrane transport (GO:0034765) 3.772SCN9A, SCN1A
regulation of localization (GO:0032879) 1.942SCN1A, SCN9A
regulation of transmembrane transport (GO:0034762) 3.742SCN9A, SCN1A
membrane depolarization during action potential (GO:0086010) 6.072SCN1A, SCN9A
sodium ion transmembrane transport (GO:0035725) 5.232SCN1A, SCN9A
inorganic cation transmembrane transport (GO:0098662) 3.552SCN9A, SCN1A
cation transport (GO:0006812) 3.112SCN9A, SCN1A
regulation of biological quality (GO:0065008) 1.682SCN1A, SCN9A
monovalent inorganic cation transport (GO:0015672) 3.742SCN1A, SCN9A
neurological system process (GO:0050877) 2.642SCN9A, SCN1A
cellular process (GO:0009987) 0.262GABRG2, SCN1A
sodium ion transport (GO:0006814) 4.752SCN1A, SCN9A
metal ion transport (GO:0030001) 3.362SCN9A, SCN1A
response to chemical (GO:0042221) 1.982GABRG2, SCN9A
regulation of cellular process (GO:0050794) 0.52GABRG2, SCN1A
system process (GO:0003008) 2.32SCN1A, SCN9A
adult behavior (GO:0030534) 4.792GABRG2, SCN1A
response to stimulus (GO:0050896) 1.222GABRG2, SCN9A
regulation of ion transport (GO:0043269) 3.42SCN1A, SCN9A
cation transmembrane transport (GO:0098655) 3.432SCN9A, SCN1A

NET-GE enrichment

Term New enriched termICP valueGenes
single-organism behavior (GO:0044708) -3.790.01SCN9A, GABRG2, SCN1A
neuronal action potential (GO:0019228) -6.40.003SCN9A, SCN1A
sodium ion transmembrane transport (GO:0035725) -5.230.028SCN9A, SCN1A
behavior (GO:0007610) -3.470.024SCN9A, GABRG2, SCN1A
post-embryonic development (GO:0009791) -5.350.026GABRG2, SCN9A
membrane depolarization (GO:0051899) -5.620.041SCN1A, SCN9A
inorganic ion transmembrane transport (GO:0098660) -3.380.036SCN1A, GABRG2, SCN9A
action potential (GO:0001508) -5.420.017SCN1A, SCN9A
membrane depolarization during action potential (GO:0086010) -6.070.005SCN9A, SCN1A
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein complex (GO:0043234) 1.513SCN1A, GABRG2, SCN9A
transmembrane transporter complex (GO:1902495) 4.063SCN1A, GABRG2, SCN9A
cell part (GO:0044464) 0.113SCN1A, GABRG2, SCN9A
integral component of membrane (GO:0016021) 1.143SCN9A, GABRG2, SCN1A
membrane (GO:0016020) 0.683SCN1A, GABRG2, SCN9A
transporter complex (GO:1990351) 4.043SCN1A, GABRG2, SCN9A
membrane part (GO:0044425) 0.953SCN9A, GABRG2, SCN1A
membrane protein complex (GO:0098796) 2.843SCN1A, GABRG2, SCN9A
ion channel complex (GO:0034702) 4.183SCN9A, GABRG2, SCN1A
plasma membrane (GO:0005886) 1.393SCN9A, GABRG2, SCN1A
macromolecular complex (GO:0032991) 1.353SCN1A, GABRG2, SCN9A
cell projection (GO:0042995) 2.473SCN9A, GABRG2, SCN1A
plasma membrane part (GO:0044459) 1.953SCN1A, GABRG2, SCN9A
intrinsic component of membrane (GO:0031224) 1.133SCN1A, GABRG2, SCN9A
plasma membrane protein complex (GO:0098797) 3.552SCN1A, SCN9A
integral component of plasma membrane (GO:0005887) 2.572GABRG2, SCN9A
cell projection part (GO:0044463) 2.972GABRG2, SCN1A
axon (GO:0030424) 4.152GABRG2, SCN1A
sodium channel complex (GO:0034706) 6.972SCN1A, SCN9A
neuron part (GO:0097458) 2.642GABRG2, SCN1A
cation channel complex (GO:0034703) 4.692SCN9A, SCN1A
neuron projection (GO:0043005) 3.122GABRG2, SCN1A
intracellular part (GO:0044424) 0.282GABRG2, SCN1A
intrinsic component of plasma membrane (GO:0031226) 2.532GABRG2, SCN9A
cell junction (GO:0030054) 2.752GABRG2, SCN1A
voltage-gated sodium channel complex (GO:0001518) 7.162SCN9A, SCN1A

NET-GE enrichment

Term New enriched termICP valueGenes
transmembrane transporter complex (GO:1902495) -4.060.024SCN1A, GABRG2, SCN9A
transporter complex (GO:1990351) -4.040.025SCN1A, GABRG2, SCN9A
sodium channel complex (GO:0034706) -6.970.001SCN1A, SCN9A
ion channel complex (GO:0034702) -4.180.002SCN9A, GABRG2, SCN1A
cation channel complex (GO:0034703) -4.690.037SCN9A, SCN1A
voltage-gated sodium channel complex (GO:0001518) -7.160.0SCN9A, SCN1A