EXOSC8, exosome component 8, 11340

N. diseases: 22; N. variants: 3
Disease: Congenital pontocerebellar hypoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		0.010 GeneticVariation disease BEFREE Mutations in its subunits EXOSC8 and EXOSC3 cause pontocerebellar hypoplasia, spinal muscular atrophy (SMA) and central nervous system demyelination. 27193168 2016