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 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 Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 22949387 2013
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 CausalMutation disease CLINVAR The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene. 23012243 2013
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease CLINVAR The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene. 23012243 2013
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease CLINVAR 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 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 CausalMutation disease CLINVAR 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 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 CausalMutation disease CLINVAR ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. 22658618 2012
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 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 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 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 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 CausalMutation 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 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 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 CausalMutation disease CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 CausalMutation disease CLINVAR Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination. 18824584 2008
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease UNIPROT The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008
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 Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study. 16616355 2006