EXOSC8, exosome component 8, 11340

N. diseases: 22; N. variants: 3
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553449
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B 		0.020 Biomarker disease BEFREE In contrast, mutations in the structural exosome genes EXOSC3 and EXOSC8 cause pontocerebellar hypoplasia type 1b (PCH1b) and type 1c (PCH1c), respectively, which are related autosomal recessive, neurodegenerative diseases. 31768969 2020
CUI: C3553449
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B 		0.020 GeneticVariation disease BEFREE Mutations in the RNA exosome genes <i>EXOSC3</i> and <i>EXOSC8</i> cause pontocerebellar hypoplasia type 1b (PCH1b) and type 1c (PCH1c), respectively, which are similar autosomal-recessive, neurodegenerative diseases. 29093021 2018