Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
0.050 GeneticVariation disease BEFREE We report on two sisters originally suspected of having CMMRD syndrome due to their history of colonic polyps and NF1 associated skin findings, both were subsequently found to have biallelic MSH6 mutations. 29785566 2019
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
0.050 GeneticVariation disease BEFREE Individuals with homozygous mutations in MSH6 can develop an NF1-like phenotype, including multiple CALMs. 25329635 2014
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
0.050 GeneticVariation disease BEFREE Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6. 16283678 2005
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
0.050 GeneticVariation disease BEFREE We report here the first identification of a homozygous mutation in MSH6 in a family with childhood-onset brain tumor, lymphoma, colorectal cancer, and neurofibromatosis type 1 phenotype. 16000562 2005
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
0.050 Biomarker disease BEFREE Apparently, not only MLH1, MSH2 and PMS2, but also MSH6 is involved in the syndrome of childhood cancer and signs of neurofibromatosis type 1. 15340263 2004