PEX10, peroxisomal biogenesis factor 10, 5192

N. diseases: 141; N. variants: 27
Disease: Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia 		0.130 GeneticVariation phenotype BEFREE Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders. 30640048 2019
CUI: C0004134
Disease: Ataxia
Ataxia 		0.130 Biomarker phenotype BEFREE Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia. 27230853 2016
CUI: C0004134
Disease: Ataxia
Ataxia 		0.130 GeneticVariation phenotype BEFREE Mutations in PEX10 are a cause of autosomal recessive ataxia. 20695019 2010
CUI: C0004134
Disease: Ataxia
Ataxia 		0.130 Biomarker phenotype HPO