Disease table of VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF OMIM ID: PS277450

Gene-disease associations table

GeneAssociated with VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
GGCXClinVar, OMIM, HUMSAVARHGNC link2p11.22610842, PS277450
VKORC1ClinVar, OMIM, HUMSAVARHGNC link16p11.22122700, PS277450

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
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
GGCXVKORC1No1SMN1

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
GGCXVKORC1maybe, indirectMaybe they interact indirectly through vitamin k. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Ubiquinone and other terpenoid-quinone biosynthesishsa001309.452GGCX, VKORC1

NET-GE enrichment

Term New enriched termICP valueGenes
Ubiquinone and other terpenoid-quinone biosynthesis (hsa00130) -9.450.0GGCX, VKORC1
Metabolism of cofactors and vitaminsNEW5.160.007GGCX, VKORC1
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Gamma-carboxylation, transport, and amino-terminal cleavage of proteinsR-HSA-1598549.522GGCX, VKORC1
Post-translational protein modificationR-HSA-5975924.542GGCX, VKORC1
Gamma carboxylation, hypusine formation and arylsulfatase activationR-HSA-1638417.812GGCX, VKORC1
Metabolism of proteinsR-HSA-3924993.412GGCX, VKORC1

NET-GE enrichment

Term New enriched termICP valueGenes
Gamma-carboxylation, transport, and amino-terminal cleavage of proteins (R-HSA-159854) -9.520.0GGCX, VKORC1
Post-translational protein modification (R-HSA-597592) -4.540.011GGCX, VKORC1
Gamma carboxylation, hypusine formation and arylsulfatase activation (R-HSA-163841) -7.810.0GGCX, VKORC1
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
catalytic activity (GO:0003824) 1.052GGCX, VKORC1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
hemostasis (GO:0007599) 4.52GGCX, VKORC1
blood coagulation (GO:0007596) 4.522GGCX, VKORC1
single-organism process (GO:0044699) 0.482GGCX, VKORC1
cellular protein metabolic process (GO:0044267) 1.632GGCX, VKORC1
cellular macromolecule metabolic process (GO:0044260) 0.932GGCX, VKORC1
protein carboxylation (GO:0018214) 7.332GGCX, VKORC1
peptidyl-amino acid modification (GO:0018193) 2.982GGCX, VKORC1
organic substance metabolic process (GO:0071704) 0.632GGCX, VKORC1
biological regulation (GO:0065007) 0.392GGCX, VKORC1
regulation of biological quality (GO:0065008) 1.682GGCX, VKORC1
multicellular organismal process (GO:0032501) 1.452GGCX, VKORC1
regulation of body fluid levels (GO:0050878) 3.762GGCX, VKORC1
cellular process (GO:0009987) 0.262GGCX, VKORC1
cellular protein modification process (GO:0006464) 1.792GGCX, VKORC1
macromolecule modification (GO:0043412) 1.732GGCX, VKORC1
protein modification process (GO:0036211) 1.792GGCX, VKORC1
metabolic process (GO:0008152) 0.582GGCX, VKORC1
primary metabolic process (GO:0044238) 0.692GGCX, VKORC1
single-multicellular organism process (GO:0044707) 1.782GGCX, VKORC1
protein metabolic process (GO:0019538) 1.452GGCX, VKORC1
peptidyl-glutamic acid carboxylation (GO:0017187) 7.332GGCX, VKORC1
peptidyl-glutamic acid modification (GO:0018200) 6.332GGCX, VKORC1
cellular metabolic process (GO:0044237) 0.692GGCX, VKORC1
macromolecule metabolic process (GO:0043170) 0.832GGCX, VKORC1
coagulation (GO:0050817) 4.512GGCX, VKORC1

NET-GE enrichment

Term New enriched termICP valueGenes
hemostasis (GO:0007599) -4.50.028GGCX, VKORC1
regulation of body fluid levels (GO:0050878) -3.760.044GGCX, VKORC1
post-translational protein modification (GO:0043687) NEW6.170.006GGCX, VKORC1
blood coagulation (GO:0007596) -4.520.028GGCX, VKORC1
peptidyl-glutamic acid carboxylation (GO:0017187) -7.330.0GGCX, VKORC1
peptidyl-glutamic acid modification (GO:0018200) -6.330.0GGCX, VKORC1
coagulation (GO:0050817) -4.510.028GGCX, VKORC1
protein carboxylation (GO:0018214) -7.330.0GGCX, VKORC1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.62GGCX, VKORC1
integral component of membrane (GO:0016021) 1.142GGCX, VKORC1
membrane (GO:0016020) 0.682GGCX, VKORC1
cell part (GO:0044464) 0.112GGCX, VKORC1
cytoplasmic part (GO:0044444) 0.822GGCX, VKORC1
endoplasmic reticulum membrane (GO:0005789) 2.952GGCX, VKORC1
intracellular organelle part (GO:0044446) 0.812GGCX, VKORC1
endoplasmic reticulum part (GO:0044432) 2.732GGCX, VKORC1
intracellular organelle (GO:0043229) 0.512GGCX, VKORC1
intrinsic component of membrane (GO:0031224) 1.132GGCX, VKORC1
intracellular part (GO:0044424) 0.282GGCX, VKORC1
membrane part (GO:0044425) 0.952GGCX, VKORC1
membrane-bounded organelle (GO:0043227) 0.472GGCX, VKORC1
organelle (GO:0043226) 0.42GGCX, VKORC1
organelle part (GO:0044422) 0.792GGCX, VKORC1
endoplasmic reticulum (GO:0005783) 2.562GGCX, VKORC1

NET-GE enrichment

Term New enriched termICP valueGenes
endoplasmic reticulum part (GO:0044432) -2.730.045GGCX, VKORC1
endoplasmic reticulum membrane (GO:0005789) -2.950.023GGCX, VKORC1