MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
Disease: Adenomatous Polyps ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206677
Disease: Adenomatous Polyps
Adenomatous Polyps 		0.050 GeneticVariation disease BEFREE Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review. 23007840 2013
CUI: C0206677
Disease: Adenomatous Polyps
Adenomatous Polyps 		0.050 GeneticVariation disease BEFREE MYH mutations were identified only in the group of patients with attenuated adenomatous polyposis with ten or more adenomatous polyps. 17674103 2007
CUI: C0206677
Disease: Adenomatous Polyps
Adenomatous Polyps 		0.050 GeneticVariation disease BEFREE Chromosomal instability in MYH- and APC-mutant adenomatous polyps. 16510566 2006
CUI: C0206677
Disease: Adenomatous Polyps
Adenomatous Polyps 		0.050 GeneticVariation disease BEFREE Using Fisher's exact test and logistic regression, we compared the frequency of the known disease-causing MYH mutations Y165C, G382D and 466delE in 137 probands (117 cases with CRC and 20 cases diagnosed on the basis of adenomatous polyps only) from families with three or more CRCs but negative for mutations in the MMR genes and in 967 healthy controls with comparable ethnic backgrounds. 16774938 2006
CUI: C0206677
Disease: Adenomatous Polyps
Adenomatous Polyps 		0.050 GeneticVariation disease BEFREE However, the presence of biallelic germline MYH mutations correlated with the presence of >or=20 adenomatous polyps. 15236166 2004