Disease table of C1Q DEFICIENCY OMIM ID: 613652

Gene-disease associations table

GeneAssociated with C1Q DEFICIENCY inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
C1QCClinVar, OMIM, HUMSAVARHGNC link1p36.121613652
C1QBClinVar, OMIM, HUMSAVARHGNC link1p36.121613652
C1QAClinVar, OMIMHGNC link1p36.121613652

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Common tandem groupNumber of genes in this tandem group associated to this diseaseGenes in this tandem group associated to this disease
Group 213C1QC, C1QB, C1QA
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
1p36.123C1QC, C1QB, C1QA
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
1p363C1QC, C1QB, C1QA
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
1p33C1QC, C1QB, C1QA
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
1p3C1QC, C1QB, C1QA
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
13C1QC, C1QB, C1QA
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
C1QBYES1IRF80
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
C1QCC1QBNo1FN1
C1QCC1QANo2APOA1, FN1
C1QBC1QANo1FN1

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
Gene1Gene2InteractionNumber of common interactorsCommon genes in interaction
C1QCC1QBYes3C1QB, C1QC, C1QA
C1QCC1QAYes3C1QB, C1QC, C1QA
C1QBC1QAYes3C1QB, C1QC, C1QA

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

Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Pertussishsa051336.463C1QB, C1QC, C1QA
Complement and coagulation cascadeshsa046106.583C1QB, C1QC, C1QA
Systemic lupus erythematosushsa053225.953C1QB, C1QC, C1QA
Chagas disease (American trypanosomiasis)hsa051425.993C1QB, C1QC, C1QA
Prion diseaseshsa050207.483C1QB, C1QC, C1QA
Staphylococcus aureus infectionhsa051506.643C1QB, C1QC, C1QA

NET-GE enrichment

Term New enriched termICP valueGenes
Pertussis (hsa05133) -6.460.0C1QB, C1QC, C1QA
Neurodegenerative diseasesNEW4.270.014C1QB, C1QC, C1QA
Infectious diseases: BacterialNEW3.760.006C1QB, C1QC, C1QA
Complement and coagulation cascades (hsa04610) -6.580.0C1QB, C1QC, C1QA
Systemic lupus erythematosus (hsa05322) -5.950.0C1QB, C1QC, C1QA
Infectious diseases: ParasiticNEW4.460.01C1QB, C1QC, C1QA
Immune diseasesNEW4.470.009C1QB, C1QC, C1QA
Chagas disease (American trypanosomiasis) (hsa05142) -5.990.0C1QB, C1QC, C1QA
Prion diseases (hsa05020) -7.480.0C1QB, C1QC, C1QA
Immune systemNEW2.920.032C1QB, C1QC, C1QA
Staphylococcus aureus infection (hsa05150) -6.640.0C1QB, C1QC, C1QA
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Creation of C4 and C2 activatorsR-HSA-1667865.583C1QB, C1QC, C1QA
Innate Immune SystemR-HSA-1682493.173C1QB, C1QC, C1QA
Immune SystemR-HSA-1682562.373C1QB, C1QC, C1QA
Classical antibody-mediated complement activationR-HSA-1736235.633C1QB, C1QC, C1QA
Complement cascadeR-HSA-1666585.383C1QB, C1QC, C1QA
Initial triggering of complementR-HSA-1666635.513C1QB, C1QC, C1QA

NET-GE enrichment

Term New enriched termICP valueGenes
Creation of C4 and C2 activators (R-HSA-166786) -5.580.0C1QB, C1QC, C1QA
Innate Immune System (R-HSA-168249) -3.170.01C1QB, C1QC, C1QA
Classical antibody-mediated complement activation (R-HSA-173623) -5.630.0C1QB, C1QC, C1QA
Complement cascade (R-HSA-166658) -5.380.0C1QB, C1QC, C1QA
Initial triggering of complement (R-HSA-166663) -5.510.0C1QB, C1QC, C1QA
Binding and Uptake of Ligands by Scavenger Receptors (R-HSA-2173782) NEW5.380.024C1QA, C1QB
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
hydrolase activity (GO:0016787) 1.93C1QB, C1QC, C1QA
endopeptidase activity (GO:0004175) 3.633C1QB, C1QC, C1QA
serine-type endopeptidase activity (GO:0004252) 4.43C1QB, C1QC, C1QA
serine hydrolase activity (GO:0017171) 4.263C1QB, C1QC, C1QA
catalytic activity (GO:0003824) 1.053C1QB, C1QC, C1QA
peptidase activity, acting on L-amino acid peptides (GO:0070011) 3.263C1QB, C1QC, C1QA
peptidase activity (GO:0008233) 3.233C1QB, C1QC, C1QA
serine-type peptidase activity (GO:0008236) 4.273C1QB, C1QC, C1QA
binding (GO:0005488) 0.182C1QA, C1QB
protein binding (GO:0005515) 0.462C1QA, C1QB

NET-GE enrichment

Term New enriched termICP valueGenes
peptidase activity (GO:0008233) -3.230.014C1QB, C1QC, C1QA
peptidase activity, acting on L-amino acid peptides (GO:0070011) -3.260.012C1QB, C1QC, C1QA
endopeptidase activity (GO:0004175) -3.630.004C1QB, C1QC, C1QA
calcium ion binding (GO:0005509) NEW3.170.024C1QB, C1QC, C1QA
protein homodimerization activity (GO:0042803) NEW3.160.029C1QB, C1QC, C1QA
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
positive regulation of response to stimulus (GO:0048584) 2.183C1QB, C1QC, C1QA
regulation of response to stimulus (GO:0048583) 1.543C1QB, C1QC, C1QA
regulation of biological process (GO:0050789) 0.453C1QB, C1QC, C1QA
regulation of immune system process (GO:0002682) 2.53C1QB, C1QC, C1QA
protein activation cascade (GO:0072376) 5.213C1QB, C1QC, C1QA
organic substance metabolic process (GO:0071704) 0.633C1QB, C1QC, C1QA
positive regulation of immune system process (GO:0002684) 2.963C1QB, C1QC, C1QA
biological regulation (GO:0065007) 0.393C1QB, C1QC, C1QA
positive regulation of biological process (GO:0048518) 1.23C1QB, C1QC, C1QA
proteolysis (GO:0006508) 2.733C1QB, C1QC, C1QA
innate immune response (GO:0045087) 3.553C1QB, C1QC, C1QA
defense response (GO:0006952) 2.783C1QB, C1QC, C1QA
response to stress (GO:0006950) 1.83C1QB, C1QC, C1QA
complement activation (GO:0006956) 5.493C1QB, C1QC, C1QA
metabolic process (GO:0008152) 0.583C1QB, C1QC, C1QA
immune response (GO:0006955) 2.863C1QB, C1QC, C1QA
complement activation, classical pathway (GO:0006958) 5.743C1QB, C1QC, C1QA
humoral immune response (GO:0006959) 4.593C1QB, C1QC, C1QA
primary metabolic process (GO:0044238) 0.693C1QB, C1QC, C1QA
regulation of immune response (GO:0050776) 2.983C1QB, C1QC, C1QA
protein metabolic process (GO:0019538) 1.453C1QB, C1QC, C1QA
response to stimulus (GO:0050896) 1.223C1QB, C1QC, C1QA
positive regulation of immune response (GO:0050778) 3.43C1QB, C1QC, C1QA
macromolecule metabolic process (GO:0043170) 0.833C1QB, C1QC, C1QA
immune system process (GO:0002376) 2.293C1QB, C1QC, C1QA
activation of immune response (GO:0002253) 3.673C1QB, C1QC, C1QA
immune effector process (GO:0002252) 3.583C1QB, C1QC, C1QA
single-organism process (GO:0044699) 0.482C1QA, C1QB

NET-GE enrichment

Term New enriched termICP valueGenes
regulation of immune response (GO:0050776) -2.980.007C1QB, C1QC, C1QA
protein activation cascade (GO:0072376) -5.210.0C1QB, C1QC, C1QA
innate immune response (GO:0045087) -3.550.005C1QB, C1QC, C1QA
positive regulation of response to stimulus (GO:0048584) -2.180.042C1QB, C1QC, C1QA
positive regulation of immune response (GO:0050778) -3.40.024C1QB, C1QC, C1QA
defense response (GO:0006952) -2.780.021C1QB, C1QC, C1QA
negative regulation of myeloid cell differentiation (GO:0045638) NEW5.420.024C1QA, C1QC
positive regulation of immune system process (GO:0002684) -2.960.006C1QB, C1QC, C1QA
regulation of immune system process (GO:0002682) -2.50.022C1QB, C1QC, C1QA
activation of immune response (GO:0002253) -3.670.001C1QB, C1QC, C1QA
immune effector process (GO:0002252) -3.580.019C1QB, C1QC, C1QA
complement activation (GO:0006956) -5.490.0C1QB, C1QC, C1QA
complement activation, classical pathway (GO:0006958) -5.740.0C1QB, C1QC, C1QA
humoral immune response (GO:0006959) -4.590.0C1QB, C1QC, C1QA
immune response (GO:0006955) -2.860.015C1QB, C1QC, C1QA
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein complex (GO:0043234) 1.513C1QB, C1QC, C1QA
macromolecular complex (GO:0032991) 1.353C1QB, C1QC, C1QA
vesicle (GO:0031982) 1.643C1QB, C1QC, C1QA
extracellular exosome (GO:0070062) 1.893C1QB, C1QC, C1QA
membrane-bounded vesicle (GO:0031988) 1.713C1QB, C1QC, C1QA
organelle (GO:0043226) 0.43C1QB, C1QC, C1QA
extracellular region (GO:0005576) 2.183C1QB, C1QC, C1QA
extracellular organelle (GO:0043230) 1.893C1QB, C1QC, C1QA
extracellular vesicle (GO:1903561) 1.893C1QB, C1QC, C1QA
membrane-bounded organelle (GO:0043227) 0.473C1QB, C1QC, C1QA
extracellular region part (GO:0044421) 1.573C1QB, C1QC, C1QA
collagen trimer (GO:0005581) 5.213C1QB, C1QC, C1QA
complement component C1 complex (GO:0005602) 9.112C1QA, C1QB
blood microparticle (GO:0072562) 4.882C1QB, C1QC

NET-GE enrichment

Term New enriched termICP valueGenes
extracellular organelle (GO:0043230) -1.890.046C1QB, C1QC, C1QA
extracellular vesicular exosome (GO:0070062) -1.890.045C1QB, C1QC, C1QA
blood microparticle (GO:0072562) -4.880.003C1QB, C1QC, C1QA
extracellular region (GO:0005576) -2.180.009C1QB, C1QC, C1QA
collagen trimer (GO:0005581) -5.210.0C1QB, C1QC, C1QA
extracellular membrane-bounded organelle (GO:0065010) NEW8.70.046C1QB, C1QC, C1QA
complement component C1 complex (GO:0005602) -9.110.0C1QA, C1QB