Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315506
rs74315506
PEX26
C 0.700 GeneticVariation 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
dbSNP: rs74315506
rs74315506
PEX26
C 0.700 GeneticVariation 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
dbSNP: rs74315506
rs74315506
PEX26
C 0.700 GeneticVariation CLINVAR Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis. 15858711

2005
dbSNP: rs74315506
rs74315506
PEX26
C 0.700 GeneticVariation CLINVAR Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. 12851857

2003