Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 GeneticVariation CLINVAR Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis? 28503822

2018
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 GeneticVariation CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805

2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 CausalMutation CLINVAR Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts. 27273229

2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 GeneticVariation CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183

2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 GeneticVariation CLINVAR DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer. 28640387

2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 GeneticVariation CLINVAR Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria. 28365877

2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 CausalMutation CLINVAR Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing. 27696107

2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 CausalMutation CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183

2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 CausalMutation CLINVAR Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours. 28805995

2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 CausalMutation CLINVAR A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 28874130

2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 GeneticVariation CLINVAR The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. 26110232

2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 GeneticVariation CLINVAR PMS2 monoallelic mutation carriers: the known unknown. 25856668

2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 CausalMutation 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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 GeneticVariation 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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 CausalMutation CLINVAR Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations. 28007021

2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 CausalMutation CLINVAR PMS2 monoallelic mutation carriers: the known unknown. 25856668

2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 CausalMutation CLINVAR Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan. 27589204

2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 GeneticVariation CLINVAR [Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute]. 26691941

2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 GeneticVariation CLINVAR Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. 27476653

2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 CausalMutation CLINVAR Inherited Mutations in Women With Ovarian Carcinoma. 26720728

2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 CausalMutation CLINVAR Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. 27476653

2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 CausalMutation CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304

2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 CausalMutation CLINVAR The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. 26110232

2016
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 CausalMutation 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
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 GeneticVariation CLINVAR Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. 27435373

2016