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: rs876660190
rs876660190
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		CATCCAT 0.700 GeneticVariation CLINVAR Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis. 20418187 2010
dbSNP: rs876660190
rs876660190
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		CATCCAT 0.700 GeneticVariation CLINVAR MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay. 19953527 2010
dbSNP: rs876660190
rs876660190
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		CATCCAT 0.700 GeneticVariation CLINVAR Base excision repair and the role of MUTYH. 19725997 2007
dbSNP: rs876660190
rs876660190
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		CATCCAT 0.700 GeneticVariation CLINVAR Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. 16287072 2006
dbSNP: rs876660190
rs876660190
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		CATCCAT 0.700 GeneticVariation CLINVAR MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. 16557584 2006
dbSNP: rs876660190
rs876660190
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		CATCCAT 0.700 GeneticVariation CLINVAR Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway. 14633673 2003
dbSNP: rs876660190
rs876660190
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		CATCCAT 0.700 GeneticVariation CLINVAR Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. 12606733 2003