C1QB, complement C1q B chain, 713

N. diseases: 24; N. variants: 8
Disease: C1q DEFICIENCY ×
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