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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR In Silico Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation. 28765196

2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency. 28286799

2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome. 18178629

2008
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts. 19039682

2009
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype. 25691505

2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes. 24689082

2014
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR A multi-gene panel study in hereditary breast and ovarian cancer in Colombia. 28528518

2018
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype. 9488480

1998
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381

2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Actionable, pathogenic incidental findings in 1,000 participants' exomes. 24055113

2013
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Anaplastic oligoastrocytoma in Turcot syndrome. 19495563

2009
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2. 18273873

2008
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Cancer genetic testing panels for inherited cancer susceptibility: the clinical experience of a large adult genetics practice. 25117502

2014
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations. 21261604

2011
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations. 21261604

2011
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR Classification of mismatch repair gene missense variants with PON-MMR. 22290698

2012
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. 20205264

2010
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. 20205264

2010
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome. 26437257

2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations. 25194673

2014
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Colorectal Cancer due to Constitutional Mismatch Repair Deficiency Mimicking Neurofibromatosis I. 26391938

2015