Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary nonpolyposis colorectal carcinoma
0.100 PosttranslationalModification disease BEFREE Mechanisms of inactivation of MLH1 in hereditary nonpolyposis colorectal carcinoma: a novel approach. 17260015 2007
Hereditary nonpolyposis colorectal carcinoma
0.100 GeneticVariation disease BEFREE The members of gastric cancer families from northern China may have similar genetic background of hMLH1 gene mutation as those of hereditary nonpolyposis colorectal carcinoma. 15918206 2005
Hereditary nonpolyposis colorectal carcinoma
0.100 GeneticVariation disease BEFREE The current data showed instead that the BRAF V599E mutation was associated only with a subgroup of colorectal carcinomas with MSI that were obtained from older patients without hereditary nonpolyposis colorectal carcinoma and showed epigenetic silencing of hMLH1. 16015629 2005
Hereditary nonpolyposis colorectal carcinoma
0.100 GeneticVariation disease BEFREE Defects in DNA mismatch-repair genes MLH1 and MSH2 reported primarily in hereditary nonpolyposis colorectal carcinoma are present in many sporadic tumors, including malignant melanomas. 15619215 2004
Hereditary nonpolyposis colorectal carcinoma
0.100 GeneticVariation disease BEFREE Forty-eight hereditary nonpolyposis colorectal carcinoma (HNPCC) families for which a tumor sample was available were evaluated for the presence of germ-line mutations in MSH2 and MLH1, tumor microsatellite instability (MSI), and where possible, expression of MSH2 and MLH1 in tumors by immunohistochemistry. 12067992 2002
Hereditary nonpolyposis colorectal carcinoma
0.100 PosttranslationalModification disease BEFREE A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor. 12124320 2002
Hereditary nonpolyposis colorectal carcinoma
0.100 GeneticVariation disease BEFREE Endometrial carcinoma is the most commonly associated extracolonic malignancy in hereditary nonpolyposis colorectal carcinoma in which germ line mutations in DNA mismatch repair genes, particularly in MSH2 and MLH1, are known to cause this syndrome. 11391585 2001
Hereditary nonpolyposis colorectal carcinoma
0.100 GeneticVariation disease BEFREE Genomic instability at short tandem repeats in the DNA, referred to as microsatellite instability (MSI) is the hallmark of hereditary nonpolyposis colorectal carcinoma (HNPCC) caused by mutations in DNA mismatch-repair genes, mostly hMLH1 and hMSH2. 11221877 2001
Hereditary nonpolyposis colorectal carcinoma
0.100 GeneticVariation disease BEFREE Hereditary nonpolyposis colorectal carcinoma (HNPCC) is due primarily to inherited mutations in two mismatch repair genes, MSH2 and MLH1, whereas germ-line mutations in other mismatch repair genes are rare. 10537275 1999
Hereditary nonpolyposis colorectal carcinoma
0.100 GeneticVariation disease BEFREE Saccharomyces cerevisiae pms2 mutations are alleles of MLH1, and pms2-2 corresponds to a hereditary nonpolyposis colorectal carcinoma-causing missense mutation. 8649412 1996
Hereditary nonpolyposis colorectal carcinoma
0.100 GeneticVariation disease BEFREE Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations. 7812952 1995
Hereditary nonpolyposis colorectal carcinoma
0.100 GeneticVariation disease BEFREE Hereditary nonpolyposis colorectal carcinoma (HNPCC) is a major cancer susceptibility syndrome known to be caused by inheritance of mutations in genes such as hMSH2 and hMLH1, which encode components of a DNA mismatch repair system. 7713503 1994