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: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary. 26446593 2016
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Cutaneous Sebaceous Lesions in a Patient With MUTYH-Associated Polyposis Mimicking Muir-Torre Syndrome. 27870730 2016
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570 2015
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. 24444654 2014
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Genetic instability in lymphoblastoid cell lines expressing biallelic and monoallelic variants in the human MUTYH gene. 24569162 2014
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability. 23108399 2013
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. 19394335 2009
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775 2009
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Characterization of mutant MUTYH proteins associated with familial colorectal cancer. 18534194 2008
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis. 17949294 2007
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Functional characterization of human MutY homolog (hMYH) missense mutation (R231L) that is linked with hMYH-associated polyposis. 17081686 2007
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. 16287072 2006
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Multiplex tetra-primer amplification refractory mutation system PCR to detect 6 common germline mutations of the MUTYH gene associated with polyposis and colorectal cancer. 16455870 2006
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. 16134147 2005
dbSNP: rs140342925
rs140342925
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR