PEX26, peroxisomal biogenesis factor 26, 55670

N. diseases: 132; N. variants: 13
Disease: Peroxisome biogenesis disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752129
rs61752129
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		GC 0.700 CausalMutation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
dbSNP: rs61752129
rs61752129
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		GC 0.700 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
dbSNP: rs61752129
rs61752129
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		GC 0.700 CausalMutation CLINVAR Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. 12851857 2003