×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
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
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
17510385 2007
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
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
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer.
8797773 1996
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
Germline hMSH2 and hMLH1 gene mutations in incomplete HNPCC families.
9399661 1997
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
CLINVAR
Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.
26248088 2015
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Influence of eight unclassified missense variants of the MLH1 gene on Lynch syndrome susceptibility.
21952876 2012
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations.
8566964 1996
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
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
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).
15872200 2005
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
Mutational analysis of the hMLH1 gene using an automated two-dimensional DNA typing system.
9067757 1997
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene.
19419416 2009
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
UNIPROT
A human compound heterozygote for two MLH1 missense mutations.
9326924 1997
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
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
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
CLINVAR
Mutation analysis of hMSH2 and hMLH1 in colorectal cancer patients in India.
15345113 2004
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
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
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
HNPCC-associated small bowel cancer: clinical and molecular characteristics.
15765394 2005
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159 2015
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes.
11139242 2001
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.
15300854 2004
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
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
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.
26248088 2015
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
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
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
Biomarker
CLINGEN
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
27329137 2016
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
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