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: rs63751618
rs63751618
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer. 27398995 2016
dbSNP: rs63751618
rs63751618
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Functional analysis of HNPCC-related missense mutations in MSH2. 18822302 2008
dbSNP: rs63751618
rs63751618
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system. 18781619 2008
dbSNP: rs63751618
rs63751618
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Structure of the human MutSalpha DNA lesion recognition complex. 17531815 2007
dbSNP: rs63751618
rs63751618
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma. 15845562 2005
dbSNP: rs63751618
rs63751618
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families. 15365995 2004
dbSNP: rs63751618
rs63751618
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Mismatch repair gene defects contribute to the genetic basis of double primary cancers of the colorectum and endometrium. 10196371 1999
dbSNP: rs63751618
rs63751618
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer. 9774676 1998
dbSNP: rs63751618
rs63751618
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): usefulness of DNA analysis for screening and diagnosis of HNPCC patients. 8581513 1995