Disease table of HYPEREKPLEXIA, HEREDITARY 1 OMIM ID: 149400

Gene-disease associations table

GeneAssociated with HYPEREKPLEXIA, HEREDITARY 1 inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
GLRA1ClinVar, OMIM, HUMSAVARHGNC link5q33.11149400
GPHNClinVarHGNC link14q23.32PS252150, 149400

Download the disease annotation in CSV format

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
GLRA1YES1REST0
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
GLRA1GPHNNo-1GLRB

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
GLRA1GPHNyes, indirectGLRA1 forms heteropentameric channels with GLRB, that interacts with GPHN. [UniProt]
KEGG pathways annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
Neuroactive ligand-receptor interaction (hsa04080) NEW4.580.04GPHN, GLRA1
REACTOME pathways annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
Ligand-gated ion channel transport (R-HSA-975298) NEW8.280.0GPHN, GLRA1
Ion channel transport (R-HSA-983712) NEW5.340.027GPHN, GLRA1
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cation binding (GO:0043169) 1.42GPHN, GLRA1
metal ion binding (GO:0046872) 1.412GPHN, GLRA1
binding (GO:0005488) 0.182GPHN, GLRA1
protein binding (GO:0005515) 0.462GPHN, GLRA1
ion binding (GO:0043167) 1.362GPHN, GLRA1

NET-GE enrichment

Term New enriched termICP valueGenes
inorganic anion transmembrane transporter activity (GO:0015103) NEW4.870.012GPHN, GLRA1
amino acid binding (GO:0016597) NEW5.710.017GPHN, GLRA1
excitatory extracellular ligand-gated ion channel activity (GO:0005231) NEW5.730.002GPHN, GLRA1
inhibitory extracellular ligand-gated ion channel activity (GO:0005237) NEW7.950.033GPHN, GLRA1
ligand-gated ion channel activity (GO:0015276) NEW4.80.023GPHN, GLRA1
transmitter-gated channel activity (GO:0022835) NEW6.410.04GPHN, GLRA1
ligand-gated channel activity (GO:0022834) NEW4.80.023GPHN, GLRA1
transmitter-gated ion channel activity (GO:0022824) NEW6.410.04GPHN, GLRA1
chloride transmembrane transporter activity (GO:0015108) NEW5.240.005GPHN, GLRA1
anion channel activity (GO:0005253) NEW5.230.005GPHN, GLRA1
chloride channel activity (GO:0005254) NEW5.360.004GPHN, GLRA1
extracellular ligand-gated ion channel activity (GO:0005230) NEW5.420.004GPHN, GLRA1
glycine binding (GO:0016594) NEW7.10.0GPHN, GLRA1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.262GPHN, GLRA1
cellular component organization (GO:0016043) 1.242GPHN, GLRA1
single-organism cellular process (GO:0044763) 0.652GPHN, GLRA1
cellular component organization or biogenesis (GO:0071840) 1.222GPHN, GLRA1
localization (GO:0051179) 1.42GPHN, GLRA1
single-organism process (GO:0044699) 0.482GPHN, GLRA1

NET-GE enrichment

Term New enriched termICP valueGenes
acrosome reaction (GO:0007340) NEW7.020.001GPHN, GLRA1
neuromuscular process controlling posture (GO:0050884) NEW7.240.0GPHN, GLRA1
chloride transmembrane transport (GO:1902476) NEW5.220.015GPHN, GLRA1
action potential (GO:0001508) NEW5.420.016GPHN, GLRA1
adult walking behavior (GO:0007628) NEW6.230.009GPHN, GLRA1
chloride transport (GO:0006821) NEW5.130.022GPHN, GLRA1
inorganic anion transmembrane transport (GO:0098661) NEW5.040.03GPHN, GLRA1
neuromuscular process (GO:0050905) NEW5.270.038GPHN, GLRA1
neuron-neuron synaptic transmission (GO:0007270) NEW5.740.013GPHN, GLRA1
regulation of respiratory gaseous exchange (GO:0043576) NEW6.590.002GPHN, GLRA1
calcium ion-dependent exocytosis (GO:0017156) NEW5.590.003GPHN, GLRA1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
synaptic membrane (GO:0097060) 4.222GPHN, GLRA1
plasma membrane region (GO:0098590) 2.972GPHN, GLRA1
postsynaptic membrane (GO:0045211) 4.472GPHN, GLRA1
membrane (GO:0016020) 0.682GPHN, GLRA1
cell part (GO:0044464) 0.112GPHN, GLRA1
dendrite (GO:0030425) 3.922GPHN, GLRA1
neuron part (GO:0097458) 2.642GPHN, GLRA1
intracellular organelle (GO:0043229) 0.512GPHN, GLRA1
synapse part (GO:0044456) 3.422GPHN, GLRA1
synapse (GO:0045202) 3.582GPHN, GLRA1
neuron projection (GO:0043005) 3.122GPHN, GLRA1
plasma membrane (GO:0005886) 1.392GPHN, GLRA1
intracellular part (GO:0044424) 0.282GPHN, GLRA1
membrane part (GO:0044425) 0.952GPHN, GLRA1
cell projection (GO:0042995) 2.472GPHN, GLRA1
plasma membrane part (GO:0044459) 1.952GPHN, GLRA1
organelle (GO:0043226) 0.42GPHN, GLRA1
cell junction (GO:0030054) 2.752GPHN, GLRA1

NET-GE enrichment

Term New enriched termICP valueGenes
synaptic membrane (GO:0097060) -4.220.005GPHN, GLRA1
chloride channel complex (GO:0034707) NEW5.890.001GPHN, GLRA1
postsynaptic membrane (GO:0045211) -4.470.003GPHN, GLRA1
synapse part (GO:0044456) -3.420.015GPHN, GLRA1
ion channel complex (GO:0034702) NEW4.180.042GPHN, GLRA1
synapse (GO:0045202) -3.580.004GPHN, GLRA1
inhibitory synapse (GO:0060077) NEW7.240.0GPHN, GLRA1