EXOSC8, exosome component 8, 11340

N. diseases: 22; N. variants: 3
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
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
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.110 GeneticVariation disease BEFREE Other EXOSC3 mutations and EXOSC8 cases are intermediate - SMA type 1-like presentation, spasticity (mostly in EXOSC8) and death between 3 months and 5 years. 29656927 2018
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.110 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		0.100 Biomarker disease HPO
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.100 Biomarker disease HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.100 Biomarker phenotype HPO
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		0.100 Biomarker phenotype HPO
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.100 Biomarker disease HPO
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.020 GeneticVariation group 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 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: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.020 GeneticVariation group 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
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