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 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 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 UNIPROT Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms. 11793469 2002
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 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 CLINVAR Two PMS2 mutations in a Turcot syndrome family with small bowel cancers. 16144131 2005
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 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 Long-range PCR facilitates the identification of PMS2-specific mutations. 16619239 2006
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 Long-range PCR facilitates the identification of PMS2-specific mutations. 16619239 2006
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 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 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 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