MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587780078
rs587780078
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TCC 0.700 CausalMutation CLINVAR Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. 27829682 2017
dbSNP: rs587780078
rs587780078
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TCC 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
dbSNP: rs587780078
rs587780078
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TCC 0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
dbSNP: rs587780078
rs587780078
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TCC 0.700 CausalMutation CLINVAR Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability. 23108399 2013
dbSNP: rs587780078
rs587780078
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TCC 0.700 CausalMutation CLINVAR High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis. 22744763 2012
dbSNP: rs587780078
rs587780078
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TCC 0.700 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775 2009
dbSNP: rs587780078
rs587780078
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TCC 0.700 CausalMutation CLINVAR Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? 19531215 2009
dbSNP: rs587780078
rs587780078
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TCC 0.700 CausalMutation CLINVAR Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). 16140997 2005
dbSNP: rs587780078
rs587780078
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TCC 0.700 CausalMutation CLINVAR High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis. 15188161 2004
dbSNP: rs587780078
rs587780078
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TCC 0.700 CausalMutation CLINVAR Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. 15366000 2004