rs267608154, PMS2

N. diseases: 4
Disease: Neoplastic Syndromes, Hereditary ×
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 Implementation of tumor testing for lynch syndrome in endometrial cancers at a large academic medical center. 23612316 2013
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
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). 16472587 2006