MSH2, mutS homolog 2, 4436

N. diseases: 490; N. variants: 777
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017638
Disease: Glioma
Glioma
0.320 GeneticVariation disease UNIPROT
CUI: C0017638
Disease: Glioma
Glioma
0.320 GeneticVariation disease BEFREE These results suggest that microsatellite instability is associated with the development of the primary gliomas rather than with the recurrence or progression, and it is not associated with structural alterations in the hMLH1 or hMSH2 genes. 12025942 2002
CUI: C0017638
Disease: Glioma
Glioma
0.320 GeneticVariation disease BEFREE We detected a single structural rearrangement, a deletion of exons 1-6 in MSH2, in the proband of one family with 3 cases with glioma and one relative with colon cancer. 24723567 2014