Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587778541
rs587778541
T 0.700 CausalMutation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570

2015

dbSNP: rs587778541
rs587778541
T 0.700 CausalMutation CLINVAR Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability. 23108399

2013

dbSNP: rs587778541
rs587778541
T 0.700 CausalMutation CLINVAR Identification of a patient with atypical MUTYH-associated polyposis through detection of the KRAS c.34G>T mutation in liver metastasis. 23341527

2013

dbSNP: rs587778541
rs587778541
T 0.700 CausalMutation CLINVAR Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms. 24278394

2013

dbSNP: rs587778541
rs587778541
T 0.700 CausalMutation CLINVAR Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. 20848659

2010

dbSNP: rs587778541
rs587778541
T 0.700 CausalMutation CLINVAR MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay. 19953527

2010

dbSNP: rs587778541
rs587778541
T 0.700 CausalMutation CLINVAR Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis. 20418187

2010

dbSNP: rs587778541
rs587778541
T 0.700 CausalMutation CLINVAR Structural constraints and the importance of lipophilicity for the mitochondrial uncoupling activity of naturally occurring caffeic acid esters with potential for the treatment of insulin resistance. 19732755

2010

dbSNP: rs587778541
rs587778541
T 0.700 CausalMutation CLINVAR Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas. 19527492

2009

dbSNP: rs587778541
rs587778541
T 0.700 CausalMutation CLINVAR APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. 19793053

2009

dbSNP: rs587778541
rs587778541
T 0.700 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009

dbSNP: rs587778541
rs587778541
T 0.700 CausalMutation CLINVAR Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. 18091433

2007

dbSNP: rs587778541
rs587778541
T 0.700 CausalMutation CLINVAR Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis. 16890597

2006

dbSNP: rs587778541
rs587778541
T 0.700 CausalMutation CLINVAR The role of MYH and microsatellite instability in the development of sporadic colorectal cancer. 17031395

2006

dbSNP: rs587778541
rs587778541
T 0.700 CausalMutation CLINVAR Increased frequency of disease-causing MYH mutations in colon cancer families. 16774938

2006

dbSNP: rs587778541
rs587778541
T 0.700 CausalMutation CLINVAR MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. 16557584

2006

dbSNP: rs587778541
rs587778541
T 0.700 CausalMutation CLINVAR The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients. 15635083

2005

dbSNP: rs587778541
rs587778541
T 0.700 CausalMutation CLINVAR Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. 16134147

2005

dbSNP: rs587778541
rs587778541
T 0.700 CausalMutation CLINVAR Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas. 14999774

2004

dbSNP: rs587778541
rs587778541
T 0.700 CausalMutation CLINVAR Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers. 12707038

2003