Source: CLINVAR

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 Risk of colorectal polyps and of malignancies in asymptomatic carriers of mutations in the main DNA mismatch repair genes. 29025352

2018
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR The spectrum of genetic variants in hereditary pancreatic cancer includes Fanconi anemia genes. 28687971

2018
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 GeneticVariation CLINVAR In Silico Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation. 28765196

2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. 27629256

2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 GeneticVariation CLINVAR A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 28874130

2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 GeneticVariation CLINVAR Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. 27629256

2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR Upper tract urothelial carcinomas: frequency of association with mismatch repair protein loss and lynch syndrome. 27713421

2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis. 28577310

2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines. 28127413

2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 28874130

2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238

2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805

2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing. 27863258

2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560

2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens. 28176205

2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183

2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations. 28422960

2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer. 27398995

2016
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation 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 Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review. 26659639

2016
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 GeneticVariation CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304

2016
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR The role of germline mutations in the BRCA1/2 and mismatch repair genes in men ascertained for early-onset and/or familial prostate cancer. 26289772

2016
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 GeneticVariation CLINVAR DNA Mismatch Repair Deficiency in Rectal Cancer: Benchmarking Its Impact on Prognosis, Neoadjuvant Response Prediction, and Clinical Cancer Genetics. 27432916

2016
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304

2016
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. 26787237

2016