Gene: PMS2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group 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 		0.110 CausalMutation group 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 		0.110 CausalMutation group CLINVAR A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome. 18178629 2008
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group 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 		0.110 CausalMutation group CLINVAR A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype. 25691505 2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes. 24689082 2014
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR A multi-gene panel study in hereditary breast and ovarian cancer in Colombia. 28528518 2018
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype. 9488480 1998
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group 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 		0.110 CausalMutation group CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381 2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Actionable, pathogenic incidental findings in 1,000 participants' exomes. 24055113 2013
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Anaplastic oligoastrocytoma in Turcot syndrome. 19495563 2009
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group 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 		0.110 CausalMutation group 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 		0.110 CausalMutation group 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 		0.110 CausalMutation group 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 		0.110 CausalMutation group 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 		0.110 GeneticVariation group CLINVAR Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations. 21261604 2011
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations. 21261604 2011
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 GeneticVariation group CLINVAR Classification of mismatch repair gene missense variants with PON-MMR. 22290698 2012
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 GeneticVariation group CLINVAR Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. 20205264 2010
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. 20205264 2010
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome. 26437257 2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group 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 		0.110 CausalMutation group CLINVAR Colorectal Cancer due to Constitutional Mismatch Repair Deficiency Mimicking Neurofibromatosis I. 26391938 2015