Disease table of NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA OMIM ID: 600794

Gene-disease associations table

GeneAssociated with NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
GARSClinVar, OMIM, HUMSAVARHGNC link7p14.32PS118220, 600794
BSCL2ClinVar, OMIM, HUMSAVARHGNC link11q12.34PS608594, PS303350, 600794, 615924

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 (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) 0.182BSCL2, GARS
protein binding (GO:0005515) 0.462BSCL2, GARS
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
primary metabolic process (GO:0044238) 0.692BSCL2, GARS
single-organism metabolic process (GO:0044710) 1.632BSCL2, GARS
cellular process (GO:0009987) 0.262BSCL2, GARS
organic substance metabolic process (GO:0071704) 0.632BSCL2, GARS
single-organism cellular process (GO:0044763) 0.652BSCL2, GARS
metabolic process (GO:0008152) 0.582BSCL2, GARS
single-organism process (GO:0044699) 0.482BSCL2, GARS
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.62BSCL2, GARS
cell part (GO:0044464) 0.112BSCL2, GARS
cytoplasmic part (GO:0044444) 0.822BSCL2, GARS
intracellular organelle part (GO:0044446) 0.812BSCL2, GARS
intracellular organelle (GO:0043229) 0.512BSCL2, GARS
intracellular part (GO:0044424) 0.282BSCL2, GARS
membrane-bounded organelle (GO:0043227) 0.472BSCL2, GARS
organelle (GO:0043226) 0.42BSCL2, GARS
organelle part (GO:0044422) 0.792BSCL2, GARS