Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.700 CausalMutation CLINVAR

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.640 CausalMutation CLINVAR

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.640 GeneticVariation CLINVAR

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.620 CausalMutation CLINVAR

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.620 GeneticVariation CLINVAR

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.620 CausalMutation CLINVAR

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.610 CausalMutation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327

2014
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.610 CausalMutation CLINVAR MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. 23361220

2014
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.610 CausalMutation CLINVAR Personalized genomic disease risk of volunteers. 24082139

2013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.610 CausalMutation CLINVAR Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability. 23108399

2013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.610 CausalMutation CLINVAR Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome. 23805267

2013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.610 CausalMutation CLINVAR Colorectal cancer in a monoallelic MYH mutation carrier. 23625202

2013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.610 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: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.610 CausalMutation CLINVAR High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis. 22744763

2012
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.610 CausalMutation CLINVAR MUTYH gene expression and alternative splicing in controls and polyposis patients. 22473953

2012
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.610 CausalMutation CLINVAR MutYH mutation carriers have increased breast cancer risk. 21952991

2012
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.610 CausalMutation CLINVAR Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. 22703879

2012
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.610 CausalMutation CLINVAR MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review. 22158503

2012
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.610 CausalMutation CLINVAR Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis. 20418187

2010
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.610 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: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.610 CausalMutation CLINVAR MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay. 19953527

2010
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.610 CausalMutation CLINVAR Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis. 21178863

2010
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.610 CausalMutation CLINVAR Biallelic MYH germline mutations as cause of Muir-Torre syndrome. 19998059

2010
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.610 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: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.610 CausalMutation CLINVAR Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. 19032956

2009