C2, complement C2, 717

N. diseases: 71; N. variants: 39
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY 		0.770 Biomarker disease BEFREE Recombinant human complement component C2 produced in a human cell line restores the classical complement pathway activity in-vitro: an alternative treatment for C2 deficiency diseases. 20727163 2010
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY 		0.770 GeneticVariation disease UNIPROT A novel type II complement C2 deficiency allele in an African-American family. 9670930 1998
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY 		0.770 GeneticVariation disease UNIPROT Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion. 8621452 1996
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY 		0.770 GeneticVariation disease BEFREE A direct assay for the most common form of C2 deficiency established that the 28 bp deletion in the C2 gene is significantly more common in Caucasoid patients with SLE compared to controls (p < 0.05). 7932427 1994
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY 		0.770 Biomarker disease GENOMICS_ENGLAND Characterization of type I complement C2 deficiency MHC haplotypes. Strong conservation of the complotype/HLA-B-region and absence of disease association due to linked class II genes. 7901282 1993
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY 		0.770 GeneticVariation disease BEFREE These data demonstrate that: 1) type I human complement C2 deficiency is caused by a 28-base pair genomic deletion that causes skipping of exon 6 during RNA splicing, resulting in generation of a premature termination codon, 2) the 28-base pair deletion in the type I C2Q0 gene is strongly associated with the HLA haplotype/complotype A25,B18,C2Q0,BfS,C4A4,C4B2,Drw2, suggesting that all C2-deficient individuals with this haplotype/complotype will harbor the 28-base pair C2 gene deletion, and 3) type II C2 deficiency is caused by a different, as yet uncharacterized, molecular genetic defect. 1577763 1992
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY 		0.770 GeneticVariation disease CLINVAR Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing. 1577763 1992
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY 		0.770 GeneticVariation disease BEFREE Using a hemolytic-plaque assay, [35S]methionine metabolic labeling of proteins in tissue culture and immunoprecipitation, RNA extraction and Northern blot analysis, and DNA restriction-enzyme digestion and Southern blot analysis, we found that C2 deficiency is not due to a major gene deletion or rearrangement but is the result of a specific and selective pretranslational regulatory defect in C2 gene expression. 2582254 1985
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY 		0.770 Biomarker disease BEFREE Hereditary complement (C2) deficiency with discoid lupus erythematosus and idiopathic atrophoderma. 315933 1979
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY 		0.770 AlteredExpression disease BEFREE The prevalence of C2 deficiency in the SLE and juvenile rheumatoid arthritis patients was significantly increased (P = 0.0009 and P = 0.02, respectively) when compared with controls, 6 (1.2%) of 509 blood donors having C2 levels consistent with heterozygous deficiency. 965492 1976
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY 		0.770 Biomarker disease BEFREE Hereditary complement (C2) deficiency with dermatomyositis. 1090155 1975
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY 		0.770 CausalMutation disease CLINVAR
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY 		0.770 Biomarker disease CTD_human