MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Hereditary Non-Polyposis Colon Cancer Type 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751221
rs63751221
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.700 CausalMutation CLINVAR Risk Factors Associated with Colorectal Cancer in a Subset of Patients with Mutations in MLH1 and MSH2 in Taiwan Fulfilling the Amsterdam II Criteria for Lynch Syndrome. 26053027 2015
dbSNP: rs63751221
rs63751221
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.700 CausalMutation CLINVAR Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome. 26248088 2015
dbSNP: rs63751221
rs63751221
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.700 CausalMutation CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682 2011
dbSNP: rs63751221
rs63751221
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.700 CausalMutation CLINVAR Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. 17453009 2007
dbSNP: rs63751221
rs63751221
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.700 CausalMutation CLINVAR Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. 15849733 2005
dbSNP: rs63751221
rs63751221
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.700 CausalMutation CLINVAR Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer. 14512394 2003
dbSNP: rs63751221
rs63751221
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.700 CausalMutation CLINVAR Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. 10480359 1999