Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 CausalMutation CLINVAR Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations. 23430938

2012
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 GeneticVariation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 GeneticVariation CLINVAR Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. 21465523

2011
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 CausalMutation CLINVAR Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. 21465523

2011
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 GeneticVariation CLINVAR Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients. 17041890

2006
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 CausalMutation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397

2004
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 GeneticVariation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397

2004
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 CausalMutation CLINVAR Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. 14630978

2004
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 CausalMutation CLINVAR Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. 10528859

1999
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 GeneticVariation CLINVAR Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. 10528859

1999
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 GeneticVariation CLINVAR A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome. 9452066

1998
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 CausalMutation CLINVAR A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome. 9452066

1998
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 CausalMutation CLINVAR Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders. 9585609

1998
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 CausalMutation CLINVAR Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect. 7681622

1993
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		0.600 CausalMutation CLINVAR A human gene responsible for Zellweger syndrome that affects peroxisome assembly. 1546315

1992