MSH6, mutS homolog 6, 2956

N. diseases: 296; N. variants: 642
Disease: Microsatellite Instability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0920269
Disease: Microsatellite Instability
Microsatellite Instability 		0.300 Biomarker phenotype CTD_human Gene targets of frameshift mutations caused by MSI are involved in various cellular functions, including DNA repair (MSH3 and MSH6), cell signaling (TGFBR2 and ACVR2A), apoptosis (BAX), epigenetic regulation (HDAC2 and ARID1A), and miRNA processing (TARBP2 and XPO5), and a subset of MSI+ CRCs reportedly shows the mutated miRNA machinery phenotype. 25701956 2015