MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
Disease: Stomach Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs36053993
rs36053993
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0038356
Disease:
Stomach Neoplasms 		T 0.700 CausalMutation CLINVAR MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay. 19953527 2010
dbSNP: rs36053993
rs36053993
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0038356
Disease:
Stomach Neoplasms 		T 0.700 CausalMutation CLINVAR Biallelic MYH germline mutations as cause of Muir-Torre syndrome. 19998059 2010
dbSNP: rs36053993
rs36053993
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0038356
Disease:
Stomach Neoplasms 		T 0.700 CausalMutation CLINVAR Characterization of mutant MUTYH proteins associated with familial colorectal cancer. 18534194 2008
dbSNP: rs36053993
rs36053993
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0038356
Disease:
Stomach Neoplasms 		T 0.700 CausalMutation CLINVAR Colorectal cancer in a monoallelic MYH mutation carrier. 23625202 2013
dbSNP: rs36053993
rs36053993
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0038356
Disease:
Stomach Neoplasms 		T 0.700 CausalMutation CLINVAR MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review. 22158503 2012
dbSNP: rs36053993
rs36053993
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0038356
Disease:
Stomach Neoplasms 		T 0.700 CausalMutation CLINVAR A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants. 21063410 2010