Disease table of EPILEPSY, FAMILIAL TEMPORAL LOBE OMIM ID: PS600512

Gene-disease associations table

GeneAssociated with EPILEPSY, FAMILIAL TEMPORAL LOBE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
GALOMIM, HUMSAVARHGNC link11q13.21PS600512
CPA6ClinVar, OMIM, HUMSAVARHGNC link8q13.22PS600512, PS121210
LGI1ClinVar, OMIM, HUMSAVARHGNC link10q23.331PS600512
RELNClinVar, OMIM, HUMSAVARHGNC link7q22.12PS600512, PS607432

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
RELNYES4HDAC1, DNMT1, TBR1, MECP20
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 (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.184LGI1, GAL, RELN, CPA6
receptor binding (GO:0005102) 2.433GAL, LGI1, RELN
protein binding (GO:0005515) 0.463GAL, RELN, LGI1
cation binding (GO:0043169) 1.42RELN, CPA6
hydrolase activity (GO:0016787) 1.92RELN, CPA6
ion binding (GO:0043167) 1.362RELN, CPA6
catalytic activity (GO:0003824) 1.052RELN, CPA6
peptidase activity, acting on L-amino acid peptides (GO:0070011) 3.262RELN, CPA6
peptidase activity (GO:0008233) 3.232RELN, CPA6
metal ion binding (GO:0046872) 1.412RELN, CPA6
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.363GAL, RELN, LGI1
cellular process (GO:0009987) 0.263GAL, LGI1, RELN
anatomical structure development (GO:0048856) 1.583GAL, RELN, LGI1
regulation of cellular component organization (GO:0051128) 2.013GAL, RELN, LGI1
positive regulation of signaling (GO:0023056) 2.413GAL, RELN, LGI1
biological regulation (GO:0065007) 0.393GAL, RELN, LGI1
single-organism cellular process (GO:0044763) 0.653GAL, RELN, LGI1
single-organism process (GO:0044699) 0.483GAL, RELN, LGI1
regulation of signaling (GO:0023051) 1.723GAL, RELN, LGI1
positive regulation of biological process (GO:0048518) 1.23GAL, RELN, LGI1
system development (GO:0048731) 2.923GAL, LGI1, RELN
positive regulation of cell communication (GO:0010647) 2.413GAL, RELN, LGI1
regulation of cell communication (GO:0010646) 1.733GAL, LGI1, RELN
regulation of biological process (GO:0050789) 0.453GAL, LGI1, RELN
regulation of cellular process (GO:0050794) 0.53GAL, RELN, LGI1
positive regulation of cellular process (GO:0048522) 1.33GAL, LGI1, RELN
positive regulation of ion transmembrane transporter activity (GO:0032414) 5.552GAL, RELN
protein localization (GO:0008104) 2.362GAL, RELN
positive regulation of metabolic process (GO:0009893) 1.742GAL, RELN
regulation of ion transmembrane transporter activity (GO:0032412) 4.552GAL, RELN
regulation of anatomical structure morphogenesis (GO:0022603) 2.792GAL, RELN
cell projection organization (GO:0030030) 3.142LGI1, RELN
regulation of transport (GO:0051049) 2.242GAL, RELN
positive regulation of cellular metabolic process (GO:0031325) 1.812GAL, RELN
regulation of cellular metabolic process (GO:0031323) 1.072GAL, RELN
positive regulation of synaptic transmission (GO:0050806) 5.072LGI1, RELN
behavior (GO:0007610) 3.472GAL, RELN
movement of cell or subcellular component (GO:0006928) 2.612LGI1, RELN
metabolic process (GO:0008152) 0.582RELN, CPA6
signal transduction (GO:0007165) 1.282GAL, RELN
neuron projection development (GO:0031175) 4.582LGI1, RELN
positive regulation of transmembrane transport (GO:0034764) 4.992GAL, RELN
regulation of ion transmembrane transport (GO:0034765) 3.772GAL, RELN
positive regulation of ion transmembrane transport (GO:0034767) 5.052GAL, RELN
cellular component organization or biogenesis (GO:0071840) 1.222RELN, LGI1
positive regulation of transporter activity (GO:0032411) 5.442GAL, RELN
modulation of synaptic transmission (GO:0050804) 4.092RELN, LGI1
regulation of localization (GO:0032879) 1.942GAL, RELN
regulation of metabolic process (GO:0019222) 1.022GAL, RELN
organic substance metabolic process (GO:0071704) 0.632RELN, CPA6
positive regulation of multicellular organismal process (GO:0051240) 2.492GAL, RELN
cellular component organization (GO:0016043) 1.242LGI1, RELN
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462GAL, RELN
regulation of cell development (GO:0060284) 3.012GAL, RELN
regulation of developmental process (GO:0050793) 2.12GAL, RELN
regulation of transporter activity (GO:0032409) 4.452GAL, RELN
regulation of ion transport (GO:0043269) 3.42GAL, RELN
positive regulation of molecular function (GO:0044093) 2.232GAL, RELN
regulation of cellular biosynthetic process (GO:0031326) 1.382GAL, RELN
regulation of macromolecule metabolic process (GO:0060255) 1.082GAL, RELN
proteolysis (GO:0006508) 2.732RELN, CPA6
regulation of molecular function (GO:0065009) 1.782GAL, RELN
macromolecule localization (GO:0033036) 2.342GAL, RELN
regulation of gene expression (GO:0010468) 1.372GAL, RELN
positive regulation of transport (GO:0051050) 2.92GAL, RELN
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432GAL, RELN
regulation of biosynthetic process (GO:0009889) 1.372GAL, RELN
regulation of nucleic acid-templated transcription (GO:1903506) 1.552GAL, RELN
positive regulation of ion transport (GO:0043270) 4.362GAL, RELN
response to stress (GO:0006950) 1.82GAL, RELN
regulation of cell growth (GO:0001558) 3.752GAL, LGI1
regulation of nitrogen compound metabolic process (GO:0051171) 1.362GAL, RELN
regulation of multicellular organismal process (GO:0051239) 1.872GAL, RELN
regulation of RNA biosynthetic process (GO:2001141) 1.552GAL, RELN
neuron projection guidance (GO:0097485) 4.432LGI1, RELN
localization (GO:0051179) 1.42GAL, RELN
single-organism localization (GO:1902578) 2.092GAL, RELN
positive regulation of macromolecule metabolic process (GO:0010604) 1.812GAL, RELN
primary metabolic process (GO:0044238) 0.692RELN, CPA6
regulation of biological quality (GO:0065008) 1.682GAL, RELN
nervous system development (GO:0007399) 3.532GAL, LGI1
regulation of primary metabolic process (GO:0080090) 1.082GAL, RELN
positive regulation of developmental process (GO:0051094) 2.772GAL, RELN
protein metabolic process (GO:0019538) 1.452RELN, CPA6
regulation of transmembrane transporter activity (GO:0022898) 4.522GAL, RELN
response to stimulus (GO:0050896) 1.222GAL, RELN
regulation of RNA metabolic process (GO:0051252) 1.522GAL, RELN
axon guidance (GO:0007411) 4.442LGI1, RELN
regulation of cell differentiation (GO:0045595) 2.422GAL, RELN
macromolecule metabolic process (GO:0043170) 0.832RELN, CPA6
regulation of transcription, DNA-templated (GO:0006355) 1.562GAL, RELN
regulation of macromolecule biosynthetic process (GO:0010556) 1.432GAL, RELN
regulation of multicellular organismal development (GO:2000026) 2.312GAL, RELN
regulation of transmembrane transport (GO:0034762) 3.742GAL, RELN
regulation of growth (GO:0040008) 3.262GAL, LGI1

NET-GE enrichment

Term New enriched termICP valueGenes
positive regulation of ion transmembrane transporter activity (GO:0032414) -5.550.012GAL, RELN
positive regulation of synaptic transmission (GO:0050806) -5.070.031LGI1, RELN
positive regulation of transporter activity (GO:0032411) -5.440.017GAL, RELN
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
extracellular region (GO:0005576) 2.184LGI1, GAL, RELN, CPA6
extracellular space (GO:0005615) 2.634RELN, GAL, LGI1, CPA6
extracellular region part (GO:0044421) 1.574RELN, GAL, LGI1, CPA6
cytoplasm (GO:0005737) 1.012GAL, RELN
cell part (GO:0044464) 0.112GAL, RELN
extracellular matrix (GO:0031012) 3.812RELN, CPA6
neuron part (GO:0097458) 2.642GAL, RELN
intracellular part (GO:0044424) 0.282GAL, RELN
proteinaceous extracellular matrix (GO:0005578) 4.012RELN, CPA6

NET-GE enrichment

Term New enriched termICP valueGenes
extracellular space (GO:0005615) -2.630.024GAL, RELN, LGI1
extracellular matrix (GO:0031012) -3.810.043RELN, CPA6
proteinaceous extracellular matrix (GO:0005578) -4.010.026RELN, CPA6
extracellular region part (GO:0044421) -1.570.038RELN, GAL, LGI1, CPA6