rs62641228, PEX26

N. diseases: 4
Disease: PEROXISOME BIOGENESIS DISORDER 7B ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PEROXISOME BIOGENESIS DISORDER 7B
CUI: C3553951
Disease: PEROXISOME BIOGENESIS DISORDER 7B
0.800 CausalMutation 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
PEROXISOME BIOGENESIS DISORDER 7B
CUI: C3553951
Disease: PEROXISOME BIOGENESIS DISORDER 7B
0.800 CausalMutation CLINVAR Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. 26287655 2016
PEROXISOME BIOGENESIS DISORDER 7B
CUI: C3553951
Disease: PEROXISOME BIOGENESIS DISORDER 7B
0.800 CausalMutation CLINVAR Conserved targeting information in mammalian and fungal peroxisomal tail-anchored proteins. 26627908 2015
PEROXISOME BIOGENESIS DISORDER 7B
CUI: C3553951
Disease: PEROXISOME BIOGENESIS DISORDER 7B
0.800 CausalMutation 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
PEROXISOME BIOGENESIS DISORDER 7B
CUI: C3553951
Disease: PEROXISOME BIOGENESIS DISORDER 7B
0.800 CausalMutation CLINVAR The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes. 12717447 2003
PEROXISOME BIOGENESIS DISORDER 7B
CUI: C3553951
Disease: PEROXISOME BIOGENESIS DISORDER 7B
0.800 CausalMutation CLINVAR Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. 12851857 2003
PEROXISOME BIOGENESIS DISORDER 7B
CUI: C3553951
Disease: PEROXISOME BIOGENESIS DISORDER 7B
0.800 GeneticVariation UNIPROT