C1QA, complement C1q A chain, 712

N. diseases: 88; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.670 GeneticVariation disease BEFREE The identification of new mutation in C1qA gene that disrupts the start codon (ATG to AGG (Met1Arg)) has not been reported previously and it expands the knowledge and importance of the C1q gene in the pathogenesis of lupus especially in the high-risk African-American population. 22472776 2012
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.670 GeneticVariation disease BEFREE The C1qA SNPs, rs172378 and rs665691, confer no genetic predisposition to SLE in a Chinese Han population. 22236909 2012
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.670 GeneticVariation disease BEFREE Recent studies have tested genetic variation at the C1QA, C1QB and C1QC (complement component 1, q subcomponent, A chain, complement component 1, q subcomponent, B chain and complement component 1, q subcomponent, c chain) loci in relation to systemic lupus erythematosus (SLE) risk. 20528885 2010
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.670 Biomarker disease BEFREE The C1QA gene is associated with subphenotypes of lupus in the African-American and Hispanic subjects. 19440201 2009
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.670 GeneticVariation disease BEFREE Polymorphisms of the C1qA gene are associated with low serum C1q levels in patients with cutaneous LE, but C1q polymorphisms have not been studied in patients with systemic lupus. 18504288 2009
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.670 GeneticVariation disease BEFREE Statistical analysis also revealed that there were no significant associations observed in the genotype distributions and allele frequencies among the patients with SLE and healthy control subjects with both C1qA-Gly70 (G/A) and C1qC-Pro14 (T/C) SNPs. 18505047 2008
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.670 GeneticVariation disease BEFREE The C1qA polymorphism associated with decreased distant metastasis has also been correlated with an increased incidence of subcutaneous systemic lupus and C1q deficiencies, suggesting that an altered immune response may play a role in the observed association. 16465510 2006
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.670 Biomarker disease MGD Central role of complement in passive protection by human IgG1 and IgG2 anti-pneumococcal antibodies in mice. 12794146 2003
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.670 Biomarker disease MGD Homozygous C1q deficiency causes glomerulonephritis associated with multiple apoptotic bodies. 9590289 1998
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.670 Biomarker disease CTD_human Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family. 8840296 1996
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.670 Biomarker disease HPO
CUI: C3150902
Disease: C1q DEFICIENCY
C1q DEFICIENCY 		0.610 Biomarker disease GENOMICS_ENGLAND C1q: A fresh look upon an old molecule. 28601358 2017
CUI: C3150902
Disease: C1q DEFICIENCY
C1q DEFICIENCY 		0.610 GeneticVariation disease BEFREE Identification of novel coding mutation in C1qA gene in an African-American pedigree with lupus and C1q deficiency. 22472776 2012
CUI: C3150902
Disease: C1q DEFICIENCY
C1q DEFICIENCY 		0.610 CausalMutation disease CLINVAR
CUI: C3150902
Disease: C1q DEFICIENCY
C1q DEFICIENCY 		0.610 Biomarker disease CTD_human
CUI: C0015230
Disease: Exanthema
Exanthema 		0.310 Biomarker phenotype BEFREE In a case study of exploring the mechanism of rash, we find that HLAs, C1QA and APOA1 are the key gene players and thus can be potential targets (or biomarkers) in monitoring or countermining rashes. 30053268 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 GeneticVariation disease BEFREE In order to explore whether these alterations are genetically determined or not, in the present study we evaluated the possible association of complement C1Q component gene variants with susceptibility to schizophrenia in Armenian population, focusing on four frequent single nucleotide polymorphisms (SNPs) of C1QA and C1QB genes. 21951915 2011
CUI: C0015230
Disease: Exanthema
Exanthema 		0.310 Biomarker phenotype CTD_human Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family. 8840296 1996
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.300 Biomarker group GENOMICS_ENGLAND C1q: A fresh look upon an old molecule. 28601358 2017
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		0.300 Biomarker disease CTD_human The molecular phenotype of endocapillary proliferation: novel therapeutic targets for IgA nephropathy. 25133636 2014
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C3280742
Disease: SYSTEMIC LUPUS ERYTHEMATOSUS 16
SYSTEMIC LUPUS ERYTHEMATOSUS 16 		0.300 SusceptibilityMutation disease ORPHANET The role of complement in the development of systemic lupus erythematosus. 15032584 2004
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		0.300 Biomarker disease CTD_human Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family. 8840296 1996
CUI: C0017662
Disease: Glomerulonephritis, Membranoproliferative
Glomerulonephritis, Membranoproliferative 		0.300 Biomarker disease CTD_human Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family. 8840296 1996
CUI: C0020951
Disease: Immune Complex Diseases
Immune Complex Diseases 		0.300 Biomarker group CTD_human Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family. 8840296 1996