Source: CLINGEN

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 Biomarker CLINGEN Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. 25512458

2015
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 Biomarker CLINGEN Deficient expression of DNA repair enzymes in early progression to sporadic colon cancer. 22494821

2012
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 Biomarker CLINGEN PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance. 20624957

2010
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 Biomarker CLINGEN The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922

2008
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 Biomarker CLINGEN Endonucleolytic function of MutLalpha in human mismatch repair. 16873062

2006
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 Biomarker CLINGEN Long-range PCR facilitates the identification of PMS2-specific mutations. 16619239

2006
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 Biomarker CLINGEN Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). 15872200

2005
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 Biomarker CLINGEN Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer. 15887124

2005
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 Biomarker CLINGEN Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer. 11793442

2002
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.640 Biomarker CLINGEN Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. 8072530

1994