PEX2, peroxisomal biogenesis factor 2, 5828

N. diseases: 152; N. variants: 13
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 CausalMutation disease CLINVAR Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations. 23430938 2012
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 GeneticVariation disease CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 GeneticVariation disease CLINVAR Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. 21465523 2011
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 CausalMutation disease CLINVAR Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. 21465523 2011
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 GeneticVariation disease CLINVAR Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients. 17041890 2006
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 CausalMutation disease CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 GeneticVariation disease CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 CausalMutation disease CLINVAR Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. 14630978 2004
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. 14630978 2004
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 CausalMutation disease CLINVAR Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. 10528859 1999
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 GeneticVariation disease CLINVAR Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. 10528859 1999
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 GeneticVariation disease CLINVAR A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome. 9452066 1998
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 CausalMutation disease CLINVAR A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome. 9452066 1998
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 CausalMutation disease CLINVAR Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders. 9585609 1998
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 CausalMutation disease CLINVAR Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect. 7681622 1993
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 CausalMutation disease CLINVAR A human gene responsible for Zellweger syndrome that affects peroxisome assembly. 1546315 1992
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND A human gene responsible for Zellweger syndrome that affects peroxisome assembly. 1546315 1992
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis. 2454948 1988
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 Biomarker disease CTD_human