C1QB, complement C1q B chain, 713

N. diseases: 24; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150902
Disease: C1q DEFICIENCY
C1q DEFICIENCY 		0.710 GeneticVariation disease BEFREE In this study we report a new mutation in the non-coding region of C1qB that is associated with C1q deficiency. 25454803 2015
CUI: C3150902
Disease: C1q DEFICIENCY
C1q DEFICIENCY 		0.710 Biomarker disease GENOMICS_ENGLAND C1q regulatory region polymorphism down-regulating murine c1q protein levels with linkage to lupus nephritis. 12133956 2002
CUI: C3150902
Disease: C1q DEFICIENCY
C1q DEFICIENCY 		0.710 GeneticVariation disease UNIPROT Molecular basis of a new type of C1q-deficiency associated with a non-functional low molecular weight (LMW) C1q: parallels and differences to other known genetic C1q-defects. 9476130 1997
CUI: C3150902
Disease: C1q DEFICIENCY
C1q DEFICIENCY 		0.710 CausalMutation disease CLINVAR
CUI: C3150902
Disease: C1q DEFICIENCY
C1q DEFICIENCY 		0.710 Biomarker disease CTD_human
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.320 GeneticVariation disease BEFREE Some of these SNPs affect multiple genes in trans that are known to be altered in individuals with disease: rs4917014, previously associated with systemic lupus erythematosus (SLE), altered gene expression of C1QB and five type I interferon response genes, both hallmarks of SLE. 24013639 2013
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.320 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 		0.320 Biomarker disease GENOMICS_ENGLAND C1q regulatory region polymorphism down-regulating murine c1q protein levels with linkage to lupus nephritis. 12133956 2002
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease PSYGENET The results obtained suggest that C1QB gene may be considered as a relevant candidate gene for susceptibility to schizophrenia, and its rs291982*G minor allele might represent a risk factor for schizophrenia at least in Armenian population. 21951915 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease BEFREE The results obtained suggest that C1QB gene may be considered as a relevant candidate gene for susceptibility to schizophrenia, and its rs291982*G minor allele might represent a risk factor for schizophrenia at least in Armenian population. 21951915 2011
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.300 Biomarker disease CTD_human Gene Expression Patterns Associated With Histopathology in Toxic Liver Fibrosis. 26396155 2016
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.300 Biomarker disease CTD_human Gene Expression Patterns Associated With Histopathology in Toxic Liver Fibrosis. 26396155 2016
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: C0010093
Disease: Corpus Luteum Cyst
Corpus Luteum Cyst 		0.300 Biomarker disease CTD_human New insights into the pathogenesis of cystic follicles in cattle: microarray analysis of gene expression in granulosa cells. 21239663 2011
CUI: C0029927
Disease: Ovarian Cysts
Ovarian Cysts 		0.300 Biomarker disease CTD_human New insights into the pathogenesis of cystic follicles in cattle: microarray analysis of gene expression in granulosa cells. 21239663 2011
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		0.300 Biomarker disease CTD_human Cardioplegia prevents ischemia-induced transcriptional alterations of cytoprotective genes in rat hearts: a DNA microarray study. 16214533 2005
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.300 Biomarker group GENOMICS_ENGLAND C1q regulatory region polymorphism down-regulating murine c1q protein levels with linkage to lupus nephritis. 12133956 2002
CUI: C0003257
Disease: Antibody Deficiency Syndrome
Antibody Deficiency Syndrome 		0.300 Biomarker disease CTD_human A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual. 2894352 1988
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.300 Biomarker group CTD_human A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual. 2894352 1988
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 GeneticVariation disease UNIPROT
CUI: C0028840
Disease: Ocular Hypertension
Ocular Hypertension 		0.200 Biomarker disease RGD Retinal synthesis and deposition of complement components induced by ocular hypertension. 16677633 2006
CUI: C0035354
Disease: Retrograde Degeneration
Retrograde Degeneration 		0.200 Biomarker phenotype RGD Genetically determined susceptibility to neurodegeneration is associated with expression of inflammatory genes. 16934480 2006
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		0.100 Biomarker phenotype HPO
CUI: C1970257
Disease: Decreased serum complement factor I
Decreased serum complement factor I 		0.100 Biomarker phenotype HPO