CD46, CD46 molecule, 4179

N. diseases: 258; N. variants: 21
Disease: Atypical Hemolytic Uremic Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769742294
rs769742294
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome 		G 0.700 GeneticVariation CLINVAR Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients. 28056875 2017
dbSNP: rs769742294
rs769742294
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome 		G 0.700 GeneticVariation CLINVAR A national specialized service in England for atypical haemolytic uraemic syndrome-the first year's experience. 25899302 2016
dbSNP: rs769742294
rs769742294
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome 		G 0.700 GeneticVariation CLINVAR The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies. 26559391 2016
dbSNP: rs769742294
rs769742294
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome 		G 0.700 GeneticVariation CLINVAR Incomplete penetrance of CD46 mutation causing familial atypical hemolytic uremic syndrome. 26307634 2015
dbSNP: rs769742294
rs769742294
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome 		G 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs769742294
rs769742294
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome 		G 0.700 GeneticVariation CLINVAR Atypical haemolytic uraemic syndrome associated with a CD46 mutation triggered by Shigella flexneri. 24944786 2014
dbSNP: rs769742294
rs769742294
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome 		G 0.700 GeneticVariation CLINVAR Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype. 23431077 2013
dbSNP: rs769742294
rs769742294
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome 		G 0.700 GeneticVariation CLINVAR Two patients with history of STEC-HUS, posttransplant recurrence and complement gene mutations. 23731345 2013
dbSNP: rs769742294
rs769742294
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome 		G 0.700 GeneticVariation CLINVAR Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 20513133 2010
dbSNP: rs769742294
rs769742294
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome 		G 0.700 GeneticVariation CLINVAR The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models. 17089378 2007
dbSNP: rs769742294
rs769742294
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome 		G 0.700 GeneticVariation CLINVAR Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome. 16762990 2006
dbSNP: rs1027208016
rs1027208016
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome 		0.010 GeneticVariation BEFREE The two other mutations previously reported in CFB associated with aHUS are c.858C>G, p.F286L in exon 6 and c.967A>Gp.K323E in exon 7. 20108004 2010
dbSNP: rs1181467668
rs1181467668
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome 		0.010 GeneticVariation BEFREE The two other mutations previously reported in CFB associated with aHUS are c.858C>G, p.F286L in exon 6 and c.967A>Gp.K323E in exon 7. 20108004 2010
dbSNP: rs1230304944
rs1230304944
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome 		0.010 GeneticVariation BEFREE In this study, we report three unrelated patients with an identical heterozygous mutation, G261D, in the FI heavy chain who developed severe aHUS at different time points in their lives. 17084897 2007
dbSNP: rs780774047
rs780774047
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome 		0.010 GeneticVariation BEFREE In this study, we report three unrelated patients with an identical heterozygous mutation, G261D, in the FI heavy chain who developed severe aHUS at different time points in their lives. 17084897 2007