Disease table of OSTEOPETROSIS, AUTOSOMAL DOMINANT OMIM ID: PS607634

Gene-disease associations table

GeneAssociated with OSTEOPETROSIS, AUTOSOMAL DOMINANT inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
CLCN7ClinVar, OMIM, HUMSAVARHGNC link16p13.32PS259700, PS607634
LRP5ClinVar, OMIM, HUMSAVARHGNC link11q13.29144750, 166710, PS133780, PS174050, 601884, 173900, 607636, 259770, PS607634

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
LRP5YES4SP1, VDR, KLF15, RUNX20
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
transporter activity (GO:0005215) 2.572LRP5, CLCN7
binding (GO:0005488) 0.182LRP5, CLCN7
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
establishment of localization (GO:0051234) 1.482LRP5, CLCN7
regulation of transport (GO:0051049) 2.242LRP5, CLCN7
transport (GO:0006810) 1.512LRP5, CLCN7
localization (GO:0051179) 1.42LRP5, CLCN7
biological regulation (GO:0065007) 0.392LRP5, CLCN7
regulation of localization (GO:0032879) 1.942LRP5, CLCN7
regulation of biological process (GO:0050789) 0.452LRP5, CLCN7
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) 0.62LRP5, CLCN7
integral component of membrane (GO:0016021) 1.142LRP5, CLCN7
membrane (GO:0016020) 0.682LRP5, CLCN7
cell part (GO:0044464) 0.112LRP5, CLCN7
cytoplasmic part (GO:0044444) 0.822LRP5, CLCN7
intracellular organelle (GO:0043229) 0.512LRP5, CLCN7
intracellular part (GO:0044424) 0.282LRP5, CLCN7
membrane part (GO:0044425) 0.952LRP5, CLCN7
membrane-bounded organelle (GO:0043227) 0.472LRP5, CLCN7
organelle (GO:0043226) 0.42LRP5, CLCN7
intrinsic component of membrane (GO:0031224) 1.132LRP5, CLCN7