CD46, CD46 molecule, 4179

N. diseases: 258; N. variants: 21
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11118555
rs11118555
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C0018810
Disease:
heart rate 		A 0.800 GeneticVariation GWASDB Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. 23583979 2013
dbSNP: rs11118555
rs11118555
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C0018810
Disease:
heart rate 		A 0.800 GeneticVariation GWASCAT Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. 23583979 2013
dbSNP: rs121909589
rs121909589
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2752040
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 20513133 2010
dbSNP: rs121909589
rs121909589
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2752040
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. 19821824 2010
dbSNP: rs121909591
rs121909591
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2752040
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 20513133 2010
dbSNP: rs121909591
rs121909591
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2752040
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. 19821824 2010
dbSNP: rs121909589
rs121909589
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2752040
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Atypical hemolytic-uremic syndrome. 19846853 2009
dbSNP: rs121909591
rs121909591
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2752040
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Atypical hemolytic-uremic syndrome. 19846853 2009
dbSNP: rs121909589
rs121909589
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2752040
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. 16621965 2006
dbSNP: rs121909589
rs121909589
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2752040
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree. 16386793 2006
dbSNP: rs121909591
rs121909591
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2752040
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. 16621965 2006
dbSNP: rs121909591
rs121909591
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2752040
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree. 16386793 2006
dbSNP: rs121909589
rs121909589
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2752040
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome. 14566051 2003
dbSNP: rs121909591
rs121909591
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2752040
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome. 14566051 2003
dbSNP: rs121909589
rs121909589
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2752040
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		C 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs121909591
rs121909591
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2752040
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 		A 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs35118522
rs35118522
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C1821417
Disease:
RESTING HEART RATE 		T 0.700 GeneticVariation GWASCAT Thirty loci identified for heart rate response to exercise and recovery implicate autonomic nervous system. 29769521 2018
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: rs41317993
rs41317993
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C1821417
Disease:
RESTING HEART RATE 		A 0.700 GeneticVariation GWASCAT Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality. 27798624 2016
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: rs2724384
rs2724384
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C0009952
Disease:
Febrile Convulsions 		A 0.700 GeneticVariation GWASCAT Common variants associated with general and MMR vaccine-related febrile seizures. 25344690 2014
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