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 GeneticVariation disease CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 CausalMutation disease CLINVAR Implementation of tumor testing for lynch syndrome in endometrial cancers at a large academic medical center. 23612316 2013
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104 2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 CausalMutation disease CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104 2016
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 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 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 Long-range PCR facilitates the identification of PMS2-specific mutations. 16619239 2006
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 CausalMutation disease CLINVAR Long-range PCR facilitates the identification of PMS2-specific mutations. 16619239 2006
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease UNIPROT Long-range PCR facilitates the identification of PMS2-specific mutations. 16619239 2006
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 CausalMutation disease CLINVAR Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. 25512458 2015
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 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 CausalMutation disease CLINVAR Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. 15077197 2004
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease CLINVAR Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines. 21376568 2011
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 CausalMutation disease CLINVAR Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines. 21376568 2011
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 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 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 CLINVAR PMS2 monoallelic mutation carriers: the known unknown. 25856668 2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 CausalMutation disease CLINVAR PMS2 mutations in childhood cancer. 16507833 2006
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease UNIPROT Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms. 11793469 2002
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease UNIPROT Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. 10480359 1999
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 Recurrent and founder mutations in the PMS2 gene. 22577899 2013