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: C0002726
Disease: Amyloidosis
Amyloidosis 		0.010 GeneticVariation disease BEFREE Here, we show that absence of TYROBP/DAP12 in a mouse model of AD-type cerebral Aβ amyloidosis (APP<sup>KM670/671NL</sup>/PSEN1<sup>Δexon9</sup>) recapitulates the expected network characteristics by normalizing the transcriptome of APP/PSEN1 mice and repressing the induction of genes involved in the switch from homeostatic microglia to disease-associated microglia (DAM), including Trem2, complement (C1qa, C1qb, C1qc, and Itgax), Clec7a and Cst7. 30283032 2019
CUI: C0027796
Disease: Neuralgia
Neuralgia 		0.010 Biomarker phenotype BEFREE Our results suggested that four differentially expressed genes, Jun, Gal, Cd74, and C1qb, had the potential to serve as prognostic or predictive markers for neuropathic pain, suggesting a potential application in the improvement of prognostic tools and treatments. 29331040 2018
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 AlteredExpression disease BEFREE We identified over two hundred differentially expressed genes, and identified the complement C1Q complex genes (C1QA, C1QB and C1QC) as a point of convergence between gene expression changes in human and mouse Rett syndrome brain. 27267200 2016
CUI: C0206138
Disease: CREST Syndrome
CREST Syndrome 		0.010 AlteredExpression disease BEFREE Interestingly, complement genes (C1QC and C1QB) showed elevated expression in lcSSc without PAH, but were expressed at the low levels in lcSSc-PAH. 26669670 2015
CUI: C0025202
Disease: melanoma
melanoma 		0.010 Biomarker disease BEFREE Transcriptome profiling of whole blood cells identifies PLEK2 and C1QB in human melanoma. 21698244 2011
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.010 AlteredExpression disease BEFREE By Northern blot hybridization, SALS was associated with increased mRNA for C1qB and clusterin in the motor cortex (Brodmann area A4), but not in superior temporal cortex (A17), relative to neurologically normal controls. 10471215 1999
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
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: 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: 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: 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