rs267608153, PMS2

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. 26110232 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. 27435373 2016
Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation CLINVAR The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. 26110232 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR PMS2 monoallelic mutation carriers: the known unknown. 25856668 2016
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.700 GeneticVariation CLINVAR The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. 26110232 2016
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses. 26247049 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses. 26247049 2015
Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation CLINVAR Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses. 26247049 2015
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.700 GeneticVariation CLINVAR Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses. 26247049 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770 2015
Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 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
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.700 GeneticVariation CLINVAR Recurrent and founder mutations in the PMS2 gene. 22577899 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Recurrent and founder mutations in the PMS2 gene. 22577899 2013
Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.700 GeneticVariation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 GeneticVariation CLINVAR
Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation CLINVAR
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR