Disease table of CHARGE SYNDROME OMIM ID: 214800

Gene-disease associations table

GeneAssociated with CHARGE SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SEMA3EClinVar, OMIMHGNC link7q21.111214800
CHD7ClinVar, OMIM, HUMSAVARHGNC link8q12.23214800, 608765, PS147950

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) 0.182CHD7, SEMA3E
protein binding (GO:0005515) 0.462CHD7, SEMA3E
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
regulation of developmental growth (GO:0048638) 4.042CHD7, SEMA3E
cell differentiation (GO:0030154) 2.142CHD7, SEMA3E
cellular component organization (GO:0016043) 1.242CHD7, SEMA3E
anatomical structure morphogenesis (GO:0009653) 2.532CHD7, SEMA3E
multicellular organism development (GO:0007275) 2.542CHD7, SEMA3E
single-organism process (GO:0044699) 0.482CHD7, SEMA3E
regulation of neurogenesis (GO:0050767) 3.212CHD7, SEMA3E
cellular developmental process (GO:0048869) 1.822CHD7, SEMA3E
regulation of growth (GO:0040008) 3.262CHD7, SEMA3E
regulation of cell development (GO:0060284) 3.012CHD7, SEMA3E
regulation of biological process (GO:0050789) 0.452CHD7, SEMA3E
biological regulation (GO:0065007) 0.392CHD7, SEMA3E
cellular component organization or biogenesis (GO:0071840) 1.222CHD7, SEMA3E
positive regulation of biological process (GO:0048518) 1.22CHD7, SEMA3E
regulation of biological quality (GO:0065008) 1.682CHD7, SEMA3E
developmental process (GO:0032502) 1.362CHD7, SEMA3E
multicellular organismal process (GO:0032501) 1.452CHD7, SEMA3E
tube morphogenesis (GO:0035239) 4.352CHD7, SEMA3E
regulation of developmental process (GO:0050793) 2.12CHD7, SEMA3E
cellular process (GO:0009987) 0.262CHD7, SEMA3E
regulation of cellular process (GO:0050794) 0.52CHD7, SEMA3E
single-organism developmental process (GO:0044767) 1.492CHD7, SEMA3E
regulation of cell differentiation (GO:0045595) 2.422CHD7, SEMA3E
single-organism cellular process (GO:0044763) 0.652CHD7, SEMA3E
regulation of multicellular organismal process (GO:0051239) 1.872CHD7, SEMA3E
regulation of localization (GO:0032879) 1.942CHD7, SEMA3E
single-multicellular organism process (GO:0044707) 1.782CHD7, SEMA3E
anatomical structure development (GO:0048856) 1.582CHD7, SEMA3E
regulation of nervous system development (GO:0051960) 3.12CHD7, SEMA3E
regulation of multicellular organismal development (GO:2000026) 2.312CHD7, SEMA3E
system development (GO:0048731) 2.922CHD7, SEMA3E
GO - cellular component annotation: shared terms / NET-GE enrichment (no shared terms)