PEX5, peroxisomal biogenesis factor 5, 5830

N. diseases: 174; N. variants: 5
Disease: Peroxisome biogenesis disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.340 GeneticVariation group BEFREE The majority of PBDs result from mutation in one of 3 genes that encode for the peroxisomal AAA ATPase complex (AAA-complex) required for cycling PEX5 for peroxisomal matrix protein import. 28521612 2017
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.340 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.340 GeneticVariation group BEFREE Genetic complementation testing with over 500 different fibroblast cell lines from patients diagnosed with a peroxisome biogenesis disorder (PBD) identified 11 cell lines with a defect in PEX5. 18712838 2009
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.340 GeneticVariation group BEFREE Furthermore, detailed analysis of PXR1 has revealed that mutations in this gene are responsible for complementation group 2 of the peroxisome biogenesis disorders. 8993569 1996
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.340 AlteredExpression group BEFREE Mutations in PXR1 define complementation group 2 of PBDs and expression of PXR1 rescues the PTS1 import defect of fibroblasts from these patients. 7719337 1995