MSH2, mutS homolog 2, 4436

N. diseases: 490; N. variants: 777
Disease: Hereditary Nonpolyposis Colorectal Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63749831
rs63749831
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 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
dbSNP: rs63749831
rs63749831
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682 2011
dbSNP: rs63749831
rs63749831
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. 20587412 2010
dbSNP: rs63749831
rs63749831
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 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
dbSNP: rs63749831
rs63749831
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Presymptomatic diagnosis using a deletion of a single codon in families with hereditary non-polyposis colorectal cancer. 15680406 2005
dbSNP: rs63749831
rs63749831
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 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
dbSNP: rs63749831
rs63749831
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions. 12124176 2002
dbSNP: rs63749831
rs63749831
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Frequency of hereditary non-polyposis colorectal cancer in Danish colorectal cancer patients. 11772966 2002
dbSNP: rs63749831
rs63749831
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. 8574961 1996
dbSNP: rs63749831
rs63749831
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 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