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: rs63749993
rs63749993
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative. 22739024 2012
dbSNP: rs63749993
rs63749993
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990 2011
dbSNP: rs63749993
rs63749993
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR Adrenocortical carcinoma, an unusual extracolonic tumor associated with Lynch II syndrome. 21225464 2011
dbSNP: rs63749993
rs63749993
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR Genealogical tree study as screening method in the Lynch syndrome prior to genetic test. 20010080 2010
dbSNP: rs63749993
rs63749993
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR Tumour spectrum of non-polyposis colorectal cancer (Lynch syndrome) on the island of Tenerife and influence of insularity on the clinical manifestations. 15075785 2004
dbSNP: rs63749993
rs63749993
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR Reduction in hMSH2 mRNA levels by premature translation termination: implications for mutation screening in hereditary nonpolyposis colorectal cancer. 10080150 1999