rs63750047, MSH2

N. diseases: 4
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 Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. 9718327 1998
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Cancer risk associated with germline DNA mismatch repair gene mutations. 9002677 1997
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Genetic instability occurs in the majority of young patients with colorectal cancer. 7585065 1995
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations. 7713503 1994
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR
Torre-Muir syndrome
CUI: C1321489
Disease: Torre-Muir syndrome
0.700 CausalMutation CLINVAR
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR