DAXX, death domain associated protein, 1616

N. diseases: 137; N. variants: 2
Disease: Ependymoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014474
Disease: Ependymoma
Ependymoma 		0.010 GeneticVariation disease BEFREE We investigated a patient cohort covering the entire spectrum of childhood and adult ependymomas (n = 128), including subependymomas and myxopapillary ependymomas, for the presence of TERT promoter mutations, for loss of ATRX or DAXX expression by immunohistochemistry (as surrogates as underlying gene mutations), and for the ALT phenotype by fluorescence in situ hybridization (FISH). 28040793 2017