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 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 The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 GeneticVariation group CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? 18709565 2008
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 GeneticVariation group CLINVAR Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? 18709565 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 PMS2 involvement in patients suspected of Lynch syndrome. 19132747 2009
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Pediatric duodenal cancer and biallelic mismatch repair gene mutations. 19283792 2009
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 Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients. 20186688 2010
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 GeneticVariation group CLINVAR Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients. 20186688 2010
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 MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. 20487569 2010
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. 20531397 2010
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. 20587412 2010
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 GeneticVariation group CLINVAR PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance. 20624957 2010
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations. 21204794 2011
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990 2011
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 CausalMutation group CLINVAR Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. 21356188 2011
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 CausalMutation group CLINVAR Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines. 21376568 2011
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.110 GeneticVariation group BEFREE The Lynch syndrome (LS) is an inherited cancer syndrome showing a preponderance of colorectal cancer (CRC) in context with endometrial cancer and several other extracolonic cancers, which is due to pathogenic mutations in the mismatch repair (MMR) genes, MLH1, MSH2, MSH6, and PMS2. 21769135 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