Disease table of EPILEPSY, FAMILIAL ADULT MYOCLONIC OMIM ID: PS601068

Gene-disease associations table

GeneAssociated with EPILEPSY, FAMILIAL ADULT MYOCLONIC inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
CNTN2OMIMHGNC link1q32.11PS601068
ADRA2BOMIMHGNC link2q11.21PS601068

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
ADRA2BYES3SP1, STAT6, TFAP2A0
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) 0.182CNTN2, ADRA2B
protein binding (GO:0005515) 0.462CNTN2, ADRA2B
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
regulation of primary metabolic process (GO:0080090) 1.082CNTN2, ADRA2B
regulation of metabolic process (GO:0019222) 1.022CNTN2, ADRA2B
positive regulation of cellular protein metabolic process (GO:0032270) 2.492CNTN2, ADRA2B
positive regulation of cellular metabolic process (GO:0031325) 1.812CNTN2, ADRA2B
positive regulation of response to stimulus (GO:0048584) 2.182CNTN2, ADRA2B
regulation of response to stimulus (GO:0048583) 1.542CNTN2, ADRA2B
positive regulation of signaling (GO:0023056) 2.412CNTN2, ADRA2B
regulation of signaling (GO:0023051) 1.722CNTN2, ADRA2B
positive regulation of cell communication (GO:0010647) 2.412CNTN2, ADRA2B
regulation of cell communication (GO:0010646) 1.732CNTN2, ADRA2B
regulation of biological process (GO:0050789) 0.452CNTN2, ADRA2B
single-organism process (GO:0044699) 0.482CNTN2, ADRA2B
positive regulation of metabolic process (GO:0009893) 1.742CNTN2, ADRA2B
regulation of neurogenesis (GO:0050767) 3.212CNTN2, ADRA2B
positive regulation of macromolecule metabolic process (GO:0010604) 1.812CNTN2, ADRA2B
regulation of neuron differentiation (GO:0045664) 3.392CNTN2, ADRA2B
regulation of signal transduction (GO:0009966) 1.842CNTN2, ADRA2B
positive regulation of signal transduction (GO:0009967) 2.52CNTN2, ADRA2B
regulation of protein metabolic process (GO:0051246) 1.932CNTN2, ADRA2B
positive regulation of protein metabolic process (GO:0051247) 2.432CNTN2, ADRA2B
regulation of cell development (GO:0060284) 3.012CNTN2, ADRA2B
regulation of anatomical structure size (GO:0090066) 3.782CNTN2, ADRA2B
regulation of developmental process (GO:0050793) 2.12CNTN2, ADRA2B
biological regulation (GO:0065007) 0.392CNTN2, ADRA2B
positive regulation of biological process (GO:0048518) 1.22CNTN2, ADRA2B
negative regulation of biological process (GO:0048519) 1.332CNTN2, ADRA2B
regulation of biological quality (GO:0065008) 1.682CNTN2, ADRA2B
multicellular organismal process (GO:0032501) 1.452CNTN2, ADRA2B
regulation of macromolecule metabolic process (GO:0060255) 1.082CNTN2, ADRA2B
regulation of cellular metabolic process (GO:0031323) 1.072CNTN2, ADRA2B
cellular process (GO:0009987) 0.262CNTN2, ADRA2B
regulation of cellular process (GO:0050794) 0.52CNTN2, ADRA2B
regulation of cell differentiation (GO:0045595) 2.422CNTN2, ADRA2B
single-organism cellular process (GO:0044763) 0.652CNTN2, ADRA2B
regulation of multicellular organismal process (GO:0051239) 1.872CNTN2, ADRA2B
system process (GO:0003008) 2.32CNTN2, ADRA2B
regulation of cellular protein metabolic process (GO:0032268) 1.992CNTN2, ADRA2B
regulation of nervous system development (GO:0051960) 3.12CNTN2, ADRA2B
regulation of multicellular organismal development (GO:2000026) 2.312CNTN2, ADRA2B
negative regulation of cellular process (GO:0048523) 1.412CNTN2, ADRA2B
positive regulation of cellular process (GO:0048522) 1.32CNTN2, ADRA2B
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intrinsic component of plasma membrane (GO:0031226) 2.532CNTN2, ADRA2B
integral component of membrane (GO:0016021) 1.142CNTN2, ADRA2B
membrane (GO:0016020) 0.682CNTN2, ADRA2B
cell part (GO:0044464) 0.112CNTN2, ADRA2B
integral component of plasma membrane (GO:0005887) 2.572CNTN2, ADRA2B
plasma membrane (GO:0005886) 1.392CNTN2, ADRA2B
membrane part (GO:0044425) 0.952CNTN2, ADRA2B
plasma membrane part (GO:0044459) 1.952CNTN2, ADRA2B
intrinsic component of membrane (GO:0031224) 1.132CNTN2, ADRA2B