Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. 25938944

2015

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants. 21063410

2010

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR A structural hinge in eukaryotic MutY homologues mediates catalytic activity and Rad9-Rad1-Hus1 checkpoint complex interactions. 20816984

2010

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. 20848659

2010

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. 20848659

2010

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer. 19836313

2009

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Alterations of the base excision repair gene MUTYH in sporadic colorectal cancer. 22641385

2012

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Analysis of inherited MYH/(MutYH) mutations in British Asian patients with colorectal cancer. 17369389

2007

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. 19032956

2009

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. 19032956

2009

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. 19793053

2009

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. 19793053

2009

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Association of monoallelic MUTYH mutation among Egyptian patients with colorectal cancer. 27631816

2017

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Atomic substitution reveals the structural basis for substrate adenine recognition and removal by adenine DNA glycosylase. 19841264

2009

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. 16207212

2005

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. 12853198

2003

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Base excision repair and the role of MUTYH. 19725997

2007

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Base-excision repair of oxidative DNA damage. 17581577

2007

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations. 12393807

2002

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer. 21171015

2011

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Cancer-associated variants and a common polymorphism of MUTYH exhibit reduced repair of oxidative DNA damage using a GFP-based assay in mammalian cells. 22926731

2012

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases. 25892863

2015

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases. 25892863

2015

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway. 14633673

2003

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 GeneticVariation CLINVAR Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway. 14633673

2003