Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		0.700 GeneticVariation disease CLINVAR Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. 28944237 2017
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		0.700 Biomarker disease GENOMICS_ENGLAND Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. 28944237 2017
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		0.700 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		0.700 GeneticVariation disease UNIPROT Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		0.700 Biomarker disease GENOMICS_ENGLAND Preimplantation genetic diagnosis for Zellweger syndrome. 17336976 2007
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		0.700 GeneticVariation disease CLINVAR Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex. 16257970 2006
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		0.700 Biomarker disease GENOMICS_ENGLAND Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis. 15858711 2005
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		0.700 GeneticVariation disease CLINVAR Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis. 15858711 2005
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		0.700 GeneticVariation disease UNIPROT The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes. 12717447 2003
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		0.700 GeneticVariation disease CLINVAR Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. 12851857 2003
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		0.700 GeneticVariation disease UNIPROT Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. 12851857 2003
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		0.700 Biomarker disease CTD_human
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		0.700 CausalMutation disease CLINVAR
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		0.700 Biomarker disease GENOMICS_ENGLAND