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 Biomarker disease CTD_human
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5925
Gene Symbol: RB1
RB1 		0.100 CausalMutation disease CLINVAR
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 A hPMS2 mutant cell line is defective in strand-specific mismatch repair. 7629132 1995
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 CausalMutation disease CLINVAR A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype. 9488480 1998
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 GENOMICS_ENGLAND Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 CausalMutation disease CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
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 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 Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. 20205264 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 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 CausalMutation disease CLINVAR Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. 27435373 2016
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 Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing. 27696107 2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease UNIPROT Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer. 15887124 2005
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 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 CausalMutation disease 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: 5395
Gene Symbol: PMS2
PMS2 		0.700 CausalMutation disease CLINVAR Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort. 26895986 2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease CLINVAR Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan. 27589204 2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.700 GeneticVariation disease UNIPROT Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). 16472587 2006
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