rs63749831, MSH2

N. diseases: 4
Disease: Hereditary Nonpolyposis Colorectal Neoplasms ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614 2012
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682 2011
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. 20587412 2010
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer. 17505997 2007
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Presymptomatic diagnosis using a deletion of a single codon in families with hereditary non-polyposis colorectal cancer. 15680406 2005
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR The inframe MSH2 codon 596 deletion is linked with HNPCC and associated with lack of MSH2 protein in tumours. 14574162 2003
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions. 12124176 2002
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Frequency of hereditary non-polyposis colorectal cancer in Danish colorectal cancer patients. 11772966 2002
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. 8574961 1996
Hereditary Nonpolyposis Colorectal Neoplasms
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development. 7874129 1994