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: rs121908381
rs121908381
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort. 28533537 2017
dbSNP: rs121908381
rs121908381
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH. 27194394 2016
dbSNP: rs121908381
rs121908381
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Inactivating MUTYH germline mutations in pediatric patients with high-grade midline gliomas. 26902849 2016
dbSNP: rs121908381
rs121908381
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing. 25590978 2015
dbSNP: rs121908381
rs121908381
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. 19032956 2009
dbSNP: rs121908381
rs121908381
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775 2009
dbSNP: rs121908381
rs121908381
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Sebaceous adenomas in an MYH associated polyposis patient of Indian (Gujarati) origin. 17874208 2008
dbSNP: rs121908381
rs121908381
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Characterization of mutant MUTYH proteins associated with familial colorectal cancer. 18534194 2008
dbSNP: rs121908381
rs121908381
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Analysis of inherited MYH/(MutYH) mutations in British Asian patients with colorectal cancer. 17369389 2007
dbSNP: rs121908381
rs121908381
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation 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
dbSNP: rs121908381
rs121908381
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. 12853198 2003
dbSNP: rs121908381
rs121908381
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations. 12393807 2002