Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		0.700 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		0.700 CausalMutation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		0.700 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		0.700 GeneticVariation disease CLINVAR High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders. 25179809 2014
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		0.700 CausalMutation disease CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		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
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		0.700 GeneticVariation disease CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in PEX10 are a cause of autosomal recessive ataxia. 20695019 2010
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		0.700 CausalMutation disease CLINVAR Mutations in PEX10 are a cause of autosomal recessive ataxia. 20695019 2010
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		0.700 CausalMutation disease CLINVAR Zellweger syndrome resulting from maternal isodisomy of chromosome 1. 17702006 2007
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		0.700 CausalMutation disease CLINVAR Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients. 17041890 2006
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		0.700 GeneticVariation disease CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		0.700 CausalMutation disease CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		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
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		0.700 GeneticVariation disease CLINVAR Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients. 10862081 2000
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		0.700 CausalMutation disease CLINVAR Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients. 10862081 2000
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		0.700 GeneticVariation disease UNIPROT Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. 9683594 1998
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		0.700 GeneticVariation disease CLINVAR Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. 9683594 1998
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		0.700 CausalMutation disease CLINVAR Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. 9683594 1998
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		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
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		0.700 Biomarker disease CTD_human
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		0.700 Biomarker disease GENOMICS_ENGLAND