Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 CausalMutation disease 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
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease 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
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 CausalMutation disease CLINVAR MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis. 22865608 2013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 CausalMutation disease CLINVAR MutYH mutation carriers have increased breast cancer risk. 21952991 2012
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR Idiopathic gastric acid hypersecretion in a patient with MUTYH-associated polyposis. 19806110 2009
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. 15366000 2004
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR Distinct functional consequences of MUTYH variants associated with colorectal cancer: Damaged DNA affinity, glycosylase activity and interaction with PCNA and Hus1. 26377631 2015
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 CausalMutation disease CLINVAR The role of MYH and microsatellite instability in the development of sporadic colorectal cancer. 17031395 2006
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 CausalMutation disease CLINVAR Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis. 21178863 2010
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 CausalMutation disease CLINVAR Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers. 12707038 2003
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 CausalMutation disease CLINVAR MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay. 19953527 2010
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 CausalMutation disease CLINVAR A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants. 21063410 2010
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 CausalMutation disease CLINVAR Increased frequency of disease-causing MYH mutations in colon cancer families. 16774938 2006
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 CausalMutation disease CLINVAR Idiopathic gastric acid hypersecretion in a patient with MUTYH-associated polyposis. 19806110 2009
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 CausalMutation disease CLINVAR Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. 17489848 2007
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease 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
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. 16287072 2006
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 CausalMutation disease 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
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 GeneticVariation disease CLINVAR Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary. 26446593 2016
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 CausalMutation disease CLINVAR Adaptive variation in environmental and genetic sex determination in a fish. 3561487 1987
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 CausalMutation disease CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775 2009
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 CausalMutation disease CLINVAR BRAF mutations in multiple sebaceous hyperplasias of patients belonging to MYH-associated polyposis pedigrees. 17273161 2007
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 CausalMutation disease CLINVAR Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. 18091433 2007
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
0.710 CausalMutation disease CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011