rs587780059, AIMP2;PMS2

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. 28466842 2017
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. 27476653 2016
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.700 GeneticVariation CLINVAR Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations. 26898890 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. 27476653 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. 27476653 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations. 26898890 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations. 26898890 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. 27476653 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. 25559809 2015
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. 25559809 2015
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.700 CausalMutation CLINVAR Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. 25559809 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. 25559809 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 23709753 2013
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 23709753 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 23709753 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 23709753 2013
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 23709753 2013
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. 20487569 2010
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. 20487569 2010