MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Hereditary Nonpolyposis Colorectal Cancer ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750781
rs63750781
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.710 CausalMutation CLINVAR Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. 12362047 2002
dbSNP: rs63750781
rs63750781
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.710 CausalMutation CLINVAR Recurring MLH1 deleterious mutations in unrelated Chinese Lynch syndrome families in Singapore. 18726168 2009
dbSNP: rs63750781
rs63750781
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.710 CausalMutation CLINVAR Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer. 11385712 2001
dbSNP: rs63750781
rs63750781
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		0.710 GeneticVariation BEFREE We report here novel HNPCC-hMLH1 mutant proteins (T117M, Q426X and 1813insA) in Danish HNPCC patients. 11429708 2001
dbSNP: rs63750781
rs63750781
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.710 CausalMutation CLINVAR Low mutation rate of hMSH2 and hMLH1 in Taiwanese hereditary non-polyposis colorectal cancer. 12919140 2003
dbSNP: rs63750781
rs63750781
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.710 CausalMutation CLINVAR The interplay between hMLH1 and hMRE11: role in MMR and the effect of hMLH1 mutations. 18373977 2008
dbSNP: rs63750781
rs63750781
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.710 CausalMutation CLINVAR Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 23403630 2013
dbSNP: rs63750781
rs63750781
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.710 CausalMutation CLINVAR Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors. 18772310 2008
dbSNP: rs63750781
rs63750781
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.710 CausalMutation CLINVAR Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds. 11112663 2001
dbSNP: rs63750781
rs63750781
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.710 CausalMutation CLINVAR The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome. 17192056 2006
dbSNP: rs63750781
rs63750781
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.710 CausalMutation CLINVAR We report here novel HNPCC-hMLH1 mutant proteins (T117M, Q426X and 1813insA) in Danish HNPCC patients. 11429708 2001
dbSNP: rs63750781
rs63750781
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.710 CausalMutation CLINVAR Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 16451135 2006
dbSNP: rs63750781
rs63750781
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.710 CausalMutation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769 2005
dbSNP: rs63750781
rs63750781
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.710 CausalMutation CLINVAR Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach. 12373605 2002
dbSNP: rs63750781
rs63750781
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		T 0.710 CausalMutation CLINVAR The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population. 18547406 2008