PEX10, peroxisomal biogenesis factor 10, 5192

N. diseases: 141; N. variants: 27
Disease: PEROXISOME BIOGENESIS DISORDER 6B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 CausalMutation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 GeneticVariation disease CLINVAR High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders. 25179809 2014
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 CausalMutation disease CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 GeneticVariation disease CLINVAR Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. 21465523 2011
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 GeneticVariation disease CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in PEX10 are a cause of autosomal recessive ataxia. 20695019 2010
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 CausalMutation disease CLINVAR Mutations in PEX10 are a cause of autosomal recessive ataxia. 20695019 2010
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in PEX10 are a cause of autosomal recessive ataxia. 20695019 2010
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 CausalMutation disease CLINVAR Zellweger syndrome resulting from maternal isodisomy of chromosome 1. 17702006 2007
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 CausalMutation disease CLINVAR Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients. 17041890 2006
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 GeneticVariation disease CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 CausalMutation disease CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 CausalMutation disease CLINVAR Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. 12794690 2003
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 GeneticVariation disease CLINVAR Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients. 10862081 2000
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 CausalMutation disease CLINVAR Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients. 10862081 2000
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 GeneticVariation disease UNIPROT Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. 9683594 1998
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 GeneticVariation disease CLINVAR Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. 9683594 1998
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 CausalMutation disease CLINVAR Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. 9683594 1998
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 GeneticVariation disease CLINVAR Formation of the peroxisome lumen is abolished by loss of Pichia pastoris Pas7p, a zinc-binding integral membrane protein of the peroxisome. 7565793 1995
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 Biomarker disease CTD_human
CUI: C3553948
Disease: PEROXISOME BIOGENESIS DISORDER 6B
PEROXISOME BIOGENESIS DISORDER 6B 		0.700 Biomarker disease GENOMICS_ENGLAND