Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 GermlineCausalMutation ORPHANET We expect to detect the mutation in other LS patients from the region, and recommend cost-effective screening for this mutation by restriction fragment length polymorphism-polymerase chain reaction or DNA sequencing of MLH1 Exon5 prior to full genetic testing in all LS suspects of Macedonian ancestry. 23100212

2012
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 GermlineCausalMutation ORPHANET Segregation of a novel MLH1 mutation in an Iranian Lynch syndrome family. 26149658

2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae. 11555625

2001
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer. 28640387

2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. 27629256

2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer. 17054581

2006
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements. 16941473

2006
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer. 16034045

2005
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 23403630

2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR. 15613555

2004
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. 14871975

2004
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations. 12810663

2003
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Lynch syndrome in Tunisia: first description of clinical features and germline mutations. 21311894

2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals. 21681552

2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304

2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR CYCLIN D1 as a genetic modifier in hereditary nonpolyposis colorectal cancer. 11507050

2001
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Extensive molecular screening for hereditary non-polyposis colorectal cancer. 10732761

2000
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Mismatch repair gene mutations in Chinese HNPCC patients. 18931482

2008
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR An intronic mutation in MLH1 associated with familial colon and breast cancer. 20717847

2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae. 9697702

1998
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2. 19669161

2010
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Redundant DNA methylation in colorectal cancers of Lynch-syndrome patients. 18618713

2008
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. 17440981

2007
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome. 19224586

2009
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.900 CausalMutation CLINVAR The interplay between hMLH1 and hMRE11: role in MMR and the effect of hMLH1 mutations. 18373977

2008