Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 CausalMutation disease CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381 2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 Biomarker disease CTD_human
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990 2011
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease CLINVAR Recurrent and founder mutations in the PMS2 gene. 22577899 2013
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 CausalMutation disease CLINVAR Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome. 22081473 2012
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease UNIPROT A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome. 18178629 2008
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease CLINVAR Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing. 27696107 2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 CausalMutation disease CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease UNIPROT Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 23709753 2013
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease CLINVAR Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. 20205264 2010
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease CLINVAR Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. 17557300 2007
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease CLINVAR Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene. 24027009 2013
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 CausalMutation disease CLINVAR DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer. 28640387 2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease CLINVAR Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations. 26898890 2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease CLINVAR MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. 20487569 2010
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease CLINVAR Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations. 21204794 2011
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease UNIPROT Four novel germline mutations in the MLH1 and PMS2 mismatch repair genes in patients with hereditary nonpolyposis colorectal cancer. 19479271 2009
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 CausalMutation disease CLINVAR Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study. 16616355 2006
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease CLINVAR Long-range PCR facilitates the identification of PMS2-specific mutations. 16619239 2006
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 CausalMutation disease 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: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease UNIPROT Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene. 24027009 2013
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 CausalMutation disease CLINVAR Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis. 25477341 2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease CLINVAR Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 22949387 2013