Disease table of GENERALIZED ARTERIAL CALCIFICATION OF INFANCY OMIM ID: PS208000

Gene-disease associations table

GeneAssociated with GENERALIZED ARTERIAL CALCIFICATION OF INFANCY inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
ABCC6ClinVar, OMIM, HUMSAVARHGNC link16p13.113PS208000, 177850, 264800
ENPP1ClinVar, OMIM, HUMSAVARHGNC link6q23.25615522, PS193100, 125853, 601665, PS208000

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
ABCC6YES4HNF4A, PLAG1, PLAGL1, SOX20
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
purine ribonucleoside triphosphate binding (GO:0035639) 2.222ENPP1, ABCC6
binding (GO:0005488) 0.182ENPP1, ABCC6
heterocyclic compound binding (GO:1901363) 1.062ENPP1, ABCC6
purine nucleoside binding (GO:0001883) 2.222ENPP1, ABCC6
nucleoside binding (GO:0001882) 2.212ENPP1, ABCC6
nucleotide binding (GO:0000166) 1.962ENPP1, ABCC6
nucleoside phosphate binding (GO:1901265) 1.962ENPP1, ABCC6
ribonucleoside binding (GO:0032549) 2.222ENPP1, ABCC6
purine nucleotide binding (GO:0017076) 2.192ENPP1, ABCC6
ATP binding (GO:0005524) 2.432ENPP1, ABCC6
hydrolase activity (GO:0016787) 1.92ENPP1, ABCC6
small molecule binding (GO:0036094) 1.892ENPP1, ABCC6
catalytic activity (GO:0003824) 1.052ENPP1, ABCC6
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818) 3.032ENPP1, ABCC6
adenyl nucleotide binding (GO:0030554) 2.42ENPP1, ABCC6
carbohydrate derivative binding (GO:0097367) 2.032ENPP1, ABCC6
organic cyclic compound binding (GO:0097159) 1.052ENPP1, ABCC6
hydrolase activity, acting on acid anhydrides (GO:0016817) 3.032ENPP1, ABCC6
pyrophosphatase activity (GO:0016462) 3.042ENPP1, ABCC6
adenyl ribonucleotide binding (GO:0032559) 2.412ENPP1, ABCC6
purine ribonucleotide binding (GO:0032555) 2.22ENPP1, ABCC6
purine ribonucleoside binding (GO:0032550) 2.222ENPP1, ABCC6
ribonucleotide binding (GO:0032553) 2.192ENPP1, ABCC6
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
response to stimulus (GO:0050896) 1.222ENPP1, ABCC6
transport (GO:0006810) 1.512ENPP1, ABCC6
localization (GO:0051179) 1.42ENPP1, ABCC6
anion transport (GO:0006820) 3.712ENPP1, ABCC6
response to chemical (GO:0042221) 1.982ENPP1, ABCC6
establishment of localization (GO:0051234) 1.482ENPP1, ABCC6
ion transport (GO:0006811) 2.662ENPP1, ABCC6
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
plasma membrane region (GO:0098590) 2.972ENPP1, ABCC6
integral component of membrane (GO:0016021) 1.142ENPP1, ABCC6
membrane (GO:0016020) 0.682ENPP1, ABCC6
cell part (GO:0044464) 0.112ENPP1, ABCC6
basolateral plasma membrane (GO:0016323) 4.562ENPP1, ABCC6
intracellular organelle part (GO:0044446) 0.812ENPP1, ABCC6
cytoplasmic part (GO:0044444) 0.822ENPP1, ABCC6
organelle part (GO:0044422) 0.792ENPP1, ABCC6
plasma membrane (GO:0005886) 1.392ENPP1, ABCC6
intracellular part (GO:0044424) 0.282ENPP1, ABCC6
membrane part (GO:0044425) 0.952ENPP1, ABCC6
plasma membrane part (GO:0044459) 1.952ENPP1, ABCC6
intrinsic component of membrane (GO:0031224) 1.132ENPP1, ABCC6

NET-GE enrichment

Term New enriched termICP valueGenes
plasma membrane region (GO:0098590) -2.970.011ENPP1, ABCC6
basolateral plasma membrane (GO:0016323) -4.560.002ENPP1, ABCC6