|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Mismatch repair gene mutations in Chinese HNPCC patients.
|
18931482 |
2008 |
|
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 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers.
|
23760103 |
2013 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer.
|
10037723 |
1999 |
|
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 |
|
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 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.
|
24440087 |
2014 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein.
|
12891553 |
2003 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
Biomarker
|
disease |
CLINGEN |
Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair.
|
9500552 |
1998 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
Biomarker
|
disease |
CLINGEN |
Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer.
|
8145827 |
1994 |
|
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 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
|
16083711 |
2005 |
|
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 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
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 |
|
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 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
|
27601186 |
2016 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Mismatch repair gene analysis in Catalonian families with colorectal cancer.
|
12070261 |
2002 |
|
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 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers.
|
12386821 |
2002 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis.
|
18337503 |
2008 |