Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.040 PosttranslationalModification disease BEFREE By contrast, we found promoter methylation of MSH2 with a higher rate of methylation in NF1 patients compared with controls. 19639020 2010
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.040 GeneticVariation disease BEFREE Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I. 19101824 2009
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.040 GeneticVariation disease BEFREE Bi-allelic germline mutations in MMR genes predispose to haematological malignancies, brain tumours, gastrointestinal tumours, polyposis and features of neurofibromatosis type 1 in early childhood.We report a brother and a sister with bi-allelic germline mutations in MSH2; a pathogenic deletion of the first 6 exons and a variant of the initiation codon (c.1A>G (p.Met1?)), whereas their phenotypes (four colorectal cancers, small bowel carcinoma and 15 adenomas at age 39 and 48, and colorectal cancer, endometrial cancer and four adenomas at age 33 and 44, respectively) are more suggestive of a mono-allelic pathogenic MMR gene mutation. 18781192 2009
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
0.040 GeneticVariation disease BEFREE Here, in an individual, we demonstrate that a homozygous novel mutation in the MMR gene MSH2 is associated with leukemia and multiple café-au-lait spots, a feature of neurofibromatosis type 1. 11809679 2002