Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. 27829682 2017
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. 23361220 2014
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. 24444654 2014
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells. 22926731 2012
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR The first mutations in the MYH gene reported in Moroccan colon cancer patients. 22266422 2012
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer. 21171015 2011
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis. 20418187 2010
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay. 19953527 2010
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. 20848659 2010
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis. 21178863 2010
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants. 21063410 2010
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer. 19836313 2009
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. 19394335 2009
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775 2009
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. 19032956 2009
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 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
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Characterization of mutant MUTYH proteins associated with familial colorectal cancer. 18534194 2008
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. 17489848 2007
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. 16557584 2006
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. 16492921 2006
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). 16140997 2005
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. 12606733 2003
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. 11818965 2002
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 GeneticVariation CLINVAR
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 GeneticVariation UNIPROT