EXOSC8, exosome component 8, 11340

N. diseases: 22; N. variants: 3
Disease: Pontocerebellar Hypoplasia Type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		0.300 GermlineCausalMutation disease ORPHANET EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. 24989451 2014