Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Frequent mismatch-repair defects link prostate cancer to Lynch syndrome. 27013479

2016

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 GeneticVariation CLINVAR Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. 26951660

2016

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers. 26648449

2016

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity. 26544533

2016

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Frequent PIK3CA Mutations in Colorectal and Endometrial Tumors With 2 or More Somatic Mutations in Mismatch Repair Genes. 27302833

2016

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Fordyce granules and hyperplastic mucosal sebaceous glands as distinctive stigmata in Muir-Torre syndrome patients: characterization with reflectance confocal microscopy. 25213213

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 GeneticVariation CLINVAR Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. 25559809

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 GeneticVariation CLINVAR Risk Factors Associated with Colorectal Cancer in a Subset of Patients with Mutations in MLH1 and MSH2 in Taiwan Fulfilling the Amsterdam II Criteria for Lynch Syndrome. 26053027

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses. 26247049

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Genetic features of Lynch syndrome in the Israeli population. 25430799

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study. 26552419

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 GeneticVariation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 GeneticVariation CLINVAR Evidence for presence of mismatch repair gene expression positive Lynch syndrome cases in India. 25420488

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer. 25307252

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Selective Versus Universal Screening for Lynch Syndrome: A Six-Year Clinical Experience. 24903654

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Identification of germline genetic mutations in patients with pancreatic cancer. 26440929

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Prognostic impact of mismatch repair genes germline defects in colorectal cancer patients: are all mutations equal? 26485756

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR HNPCC-associated pheochromocytoma: expanding the tumor spectrum. 25872134

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 GeneticVariation CLINVAR Next-generation sequencing for genetic testing of familial colorectal cancer syndromes. 26300997

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Somatic MMR gene mutations as a cause for MSI-H sebaceous neoplasms in Muir-Torre syndrome-like patients. 25504677

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Prevalence of Lynch syndrome in a Middle Eastern population with colorectal cancer. 25712738

2015

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.130 CausalMutation CLINVAR Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics. 25569433

2015