Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
0.640 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
0.640 GeneticVariation group CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
0.640 CausalMutation group CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
0.640 Biomarker group BEFREE In the present work, we identified four distinct mutations in PEX26 from five patients of CG8 PBD including 2 with ZS and 3 with IRD, in addition to 7 mutant alleles in 8 patients in the first report describing the pathogenic PEX26 gene for CG8 PBD. 16257970 2006
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
0.640 CausalMutation group 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
0.640 Biomarker group BEFREE Matsumoto and colleagues recently identified PEX26 as the gene responsible for complementation group 8 of the peroxisome biogenesis disorders and showed that it encodes an integral peroxisomal membrane protein with a single C-terminal transmembrane domain and a cytosolic N-terminus that interacts with the PEX1/PEX6 heterodimer through direct binding to the latter. 15858711 2005
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
0.640 CausalMutation group 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
0.640 GeneticVariation group BEFREE 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
0.640 Biomarker group CTD_human 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
0.640 AlteredExpression group BEFREE Expression of PEX26 restores peroxisomal protein import in the fibroblasts of an individual with PBD of CG8. 12717447 2003