×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
UNIPROT
Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.
12373605
2002
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
UNIPROT
Germline hMSH2 and hMLH1 gene mutations in incomplete HNPCC families.
9399661
1997
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
CLINVAR
Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.
26248088
2015
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
UNIPROT
CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations.
8566964
1996
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
UNIPROT
Mutational analysis of the hMLH1 gene using an automated two-dimensional DNA typing system.
9067757
1997
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
UNIPROT
A human compound heterozygote for two MLH1 missense mutations.
9326924
1997
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
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
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
CLINVAR
Mutation analysis of hMSH2 and hMLH1 in colorectal cancer patients in India.
15345113
2004
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
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
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
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
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
UNIPROT
Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria.
9048925
1997
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
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
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
UNIPROT
Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.
11793442
2002
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
UNIPROT
Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes.
9298827
1997
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
UNIPROT
The interaction of DNA mismatch repair proteins with human exonuclease I.
11427529
2001
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
CLINVAR
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
16083711
2005
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
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
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
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
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
CLINVAR
Mismatch repair gene analysis in Catalonian families with colorectal cancer.
12070261
2002
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
UNIPROT
HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.
15139004
2004
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
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
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
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
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
UNIPROT
Ten novel MSH2 and MLH1 germline mutations in families with HNPCC.
15365996
2004
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
UNIPROT
Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer.
9833759
1998
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
0.710
GeneticVariation
disease
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015