CD46, CD46 molecule, 4179

N. diseases: 258; N. variants: 21
Disease: Atypical Hemolytic Uremic Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease BEFREE Furthermore, we found weak indications that there is one protective and one risk haplotype predisposing to nephritis composed of several polymorphisms in noncoding regions of CD46, which were previously implicated in aHUS. 22171659 2011
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease CLINVAR Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype. 23431077 2013
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease CLINVAR Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 20513133 2010
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease 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
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease BEFREE In this individual, the development of aHUS has been facilitated by the combination of a trigger (pregnancy), an acquired rare genetic variant (CFH mutation) and a common susceptibility factor (CD46 haplotype). 22420623 2012
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease BEFREE Recurrent atypical haemolytic uraemic syndrome post kidney transplant due to a CD46 mutation in the setting of SMARCAL1-mediated inherited kidney disease. 28176476 2017
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease BEFREE Our results suggest that isolated kidney transplantation may be a good first option for care in aHUS patients carrying CFI/MCP combined heterozygous mutations. 19459807 2009
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease CLINVAR Atypical haemolytic uraemic syndrome associated with a CD46 mutation triggered by Shigella flexneri. 24944786 2014
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease BEFREE Atypical hemolytic uremic syndrome (aHUS) is associated with mutations in genes encoding complement-regulatory proteins factor H, I and B and membrane cofactor protein. 19590060 2009
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease BEFREE In both familial and sporadic atypical haemolytic-uraemic syndrome (aHUS), mutations have been reported in regulators of the alternative complement pathway including factor H (CFH), membrane cofactor protein (MCP), and the serine protease factor I (IF). 15784724 2005
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease BEFREE Mutations in FH and MCP are linked to atypical hemolytic uremic syndrome, a type of thrombotic microangiopathy (TMA) that causes renal failure. 28057640 2017
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease BEFREE In summary, these data suggest that genotyping for the risk haplotypes in CFH and MCP may help predict the risk of developing aHUS in unaffected carriers of mutations. 23431077 2013
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease CLINVAR Two patients with history of STEC-HUS, posttransplant recurrence and complement gene mutations. 23731345 2013
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease BEFREE Surprisingly, 4 patients had mutations only in MCP, without mutations in any of the other genes that cause aHUS. 21706448 2012
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease BEFREE Mutations in factor H (CFH), factor I (IF), and membrane cofactor protein (MCP) genes have been described as risk factors for atypical hemolytic uremic syndrome (aHUS). 17599974 2007
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease BEFREE We presented the second reported case of aHUS associated with a heterozygous c.191G > T mutation in exon 2 of MCP who responded rapidly to plasma exchange. 24005975 2013
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease CLINVAR A national specialized service in England for atypical haemolytic uraemic syndrome-the first year's experience. 25899302 2016
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease CLINVAR Incomplete penetrance of CD46 mutation causing familial atypical hemolytic uremic syndrome. 26307634 2015
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease CLINVAR Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome. 16762990 2006
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease BEFREE We describe a case of a 22-year-old man who presented with clinical features of atypical haemolytic uraemic syndrome and in whom genetic analysis of complement regulatory proteins demonstrated a CD46 mutation. 23780777 2013
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease BEFREE Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome. 16882452 2007
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease CLINVAR Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients. 28056875 2017
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease BEFREE Atypical hemolytic uremic syndrome (aHUS) mutations have been reported in the complement regulatory proteins factor H, factor I, and membrane cofactor protein (MCP). 16575691 2006
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		0.700 GeneticVariation disease BEFREE Atypical hemolytic-uremic syndrome: recurrent phenotypic expression of a patient with MCP gene mutation combined with risk haplotypes. 30676336 2019