MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Hereditary Non-Polyposis Colon Cancer Type 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease UNIPROT Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach. 12373605 2002
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease UNIPROT Germline hMSH2 and hMLH1 gene mutations in incomplete HNPCC families. 9399661 1997
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease CLINVAR Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome. 26248088 2015
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease UNIPROT CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations. 8566964 1996
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease UNIPROT Mutational analysis of the hMLH1 gene using an automated two-dimensional DNA typing system. 9067757 1997
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease UNIPROT A human compound heterozygote for two MLH1 missense mutations. 9326924 1997
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease UNIPROT A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205 2008
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease CLINVAR Mutation analysis of hMSH2 and hMLH1 in colorectal cancer patients in India. 15345113 2004
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease UNIPROT Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. 14635101 2003
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease UNIPROT hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer. 12132870 2001
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease UNIPROT Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria. 9048925 1997
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease UNIPROT Impact of microsatellite testing and mismatch repair protein expression on the clinical interpretation of genetic testing in hereditary non-polyposis colorectal cancer. 12200596 2002
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease UNIPROT Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer. 11793442 2002
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease UNIPROT Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes. 9298827 1997
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease UNIPROT The interaction of DNA mismatch repair proteins with human exonuclease I. 11427529 2001
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711 2005
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease CLINVAR Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5'UTR. 21840485 2011
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease CLINVAR Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry. 22878509 2013
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease CLINVAR Mismatch repair gene analysis in Catalonian families with colorectal cancer. 12070261 2002
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease UNIPROT HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1. 15139004 2004
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease UNIPROT Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. 12658575 2003
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease UNIPROT Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression. 11870161 2002
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease UNIPROT Ten novel MSH2 and MLH1 germline mutations in families with HNPCC. 15365996 2004
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease UNIPROT Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer. 9833759 1998
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.710 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015