|
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 |
|
COMPLEMENT COMPONENT 2 DEFICIENCY
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
A novel type II complement C2 deficiency allele in an African-American family.
|
9670930 |
1998 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
COMPLEMENT COMPONENT 2 DEFICIENCY
|
0.770 |
Biomarker
|
disease |
BEFREE |
Hereditary complement (C2) deficiency with discoid lupus erythematosus and idiopathic atrophoderma.
|
315933 |
1979 |
|
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 |
|
COMPLEMENT COMPONENT 2 DEFICIENCY
|
0.770 |
Biomarker
|
disease |
BEFREE |
Hereditary complement (C2) deficiency with dermatomyositis.
|
1090155 |
1975 |
|
COMPLEMENT COMPONENT 2 DEFICIENCY
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
COMPLEMENT COMPONENT 2 DEFICIENCY
|
0.770 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Age related macular degeneration
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
In this post hoc analysis of cross-sectional data from US participants in the Comparison of AMD Treatments Trials, genotyping was performed in 835 participants with TaqMan assays for the SNPs rs1061170 (Y402H variant in CFH), rs800292 (rs800292" genes_norm="3075">I62V variant in CFH), rs10490924 (rs10490924;s10490924" genes_norm="387715;717">A69S variant in ARMS2), rs11200638 (HTRA1), rs547154 (C2), rs2230199 (rs2230199" genes_norm="5654;718">R102G variant in C3), rs10468017 (LIPC), and rs4151667 (L9H variant in CFB).
|
29801032 |
2018 |
|
Age related macular degeneration
|
0.680 |
Biomarker
|
disease |
BEFREE |
To evaluate the contribution of genetic variants of complement factor H (CFH), complement component 2 and 3 (C2 and C3), complement factor B (CFB), and age-related maculopathy susceptibility 2 (ARMS2) to age-related macular degeneration (AMD) risk in the Mexican Mestizo population.
|
24453474 |
2014 |
|
Age related macular degeneration
|
0.680 |
GeneticVariation
|
disease |
GWASDB |
Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
|
23577725 |
2013 |
|
Age related macular degeneration
|
0.680 |
GeneticVariation
|
disease |
GWASDB |
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
|
22705344 |
2012 |
|
Age related macular degeneration
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
To determine whether genetic variants in the complement component 2 and factor B gene (C2/CFB) locus are associated with the risk for typical age-related macular degeneration (AMD) or polypoidal choroidal vasculopathy (PCV) in a Japanese population.
|
22232432 |
2012 |
|
Age related macular degeneration
|
0.680 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
|
22694956 |
2012 |
|
Age related macular degeneration
|
0.680 |
GeneticVariation
|
disease |
GWASCAT |
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
|
21665990 |
2011 |
|
Age related macular degeneration
|
0.680 |
GeneticVariation
|
disease |
GWASDB |
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
|
21665990 |
2011 |
|
Age related macular degeneration
|
0.680 |
Biomarker
|
disease |
BEFREE |
The involvement of complement factor B and complement component C2 in an Indian cohort with age-related macular degeneration.
|
19696172 |
2010 |
|
Age related macular degeneration
|
0.680 |
GeneticVariation
|
disease |
GWASDB |
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
|
20385819 |
2010 |
|
Age related macular degeneration
|
0.680 |
GeneticVariation
|
disease |
GWASCAT |
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
|
20385819 |
2010 |
|
Age related macular degeneration
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
No association with AMD was found for SNP rs9332739 (E318D) in the C2 gene or for rs4151667 (L9H), rs1048709 (R150R), rs4151659 (K565E), or rs2072633 (IVS17) in the BF gene.
|
18806293 |
2009 |