MSH6, mutS homolog 6, 2956

N. diseases: 296; N. variants: 642
Disease: Gliomatosis cerebri ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0334576
Disease: Gliomatosis cerebri
Gliomatosis cerebri 		0.010 GeneticVariation disease BEFREE We report a case with CMMR-D caused by novel homozygous MSH6 mutations leading to gliomatosis cerebri and T-ALL in an 11-year-old female and glioblastoma multiforme in her 10-year-old brother, both with rapid progression of the diseases. 21674763 2011