EXOSC8, exosome component 8, 11340

N. diseases: 22; N. variants: 3
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015160
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C 		0.710 Biomarker disease GENOMICS_ENGLAND Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature. 29656927 2018
CUI: C4015160
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C 		0.710 GeneticVariation disease BEFREE EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. 24989451 2014
CUI: C4015160
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C 		0.710 Biomarker disease GENOMICS_ENGLAND EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. 24989451 2014
CUI: C4015160
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C 		0.710 GeneticVariation disease UNIPROT EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. 24989451 2014
CUI: C4015160
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C4015160
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C 		0.710 Biomarker disease CTD_human
CUI: C4015160
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C 		0.710 CausalMutation disease CLINVAR