Gene: MLH1 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns. 24802709 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting. 18625694 2008
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR A human cell-based assay to evaluate the effects of alterations in the MLH1 mismatch repair gene. 16982745 2006
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205 2008
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205 2008
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations. 17473388 2007
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379 2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families. 11585727 2001
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression. 20864636 2010
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR A polymorphism in the ATM gene modulates the penetrance of hereditary non-polyposis colorectal cancer. 11093816 2000
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 28874130 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease 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 		0.900 GeneticVariation disease 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 		0.900 CausalMutation disease CLINVAR Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. 16341550 2006
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. 15855432 2005
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312 2008
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312 2008
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements. 12183410 2002
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements. 12183410 2002
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR An intronic mutation in MLH1 associated with familial colon and breast cancer. 20717847 2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR An intronic polymorphism of the hMLH1 gene contributes toward incomplete genetic testing for HNPCC. 12537657 2002
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. 8574961 1996
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. 8574961 1996
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 CausalMutation disease CLINVAR Analysis of telomere dynamics in peripheral blood cells from patients with Lynch syndrome. 21387278 2011
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		0.900 GeneticVariation disease CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014