PEX2, peroxisomal biogenesis factor 2, 5828

N. diseases: 152; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B 		0.700 GeneticVariation disease CLINVAR Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients. 17041890 2006
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B 		0.700 GeneticVariation disease CLINVAR Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. 21465523 2011
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B 		0.700 GeneticVariation disease CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B 		0.700 GeneticVariation disease CLINVAR Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. 10528859 1999
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B 		0.700 GeneticVariation disease UNIPROT Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. 10528859 1999
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B 		0.700 GeneticVariation disease CLINVAR A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome. 9452066 1998
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B 		0.700 GeneticVariation disease CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.630 GeneticVariation group BEFREE Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. 14630978 2004
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.610 GeneticVariation disease BEFREE We identified a mutation in the PEX2 gene in an IRD patient with compound heterozygosity for a missense mutation and the known nonsense mutation detected in ZS patients. 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 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 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 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 GeneticVariation disease CLINVAR Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients. 17041890 2006
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.540 GeneticVariation disease BEFREE Recently, the use of experimental models led to the identification of a gene encoding for a peroxisomal membrane protein (PAF-1) in which a mutation was associated with the altered phenotype in a complementation group of the Zellweger syndrome (paradigm of these diseases). 8507691 1993
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.540 GeneticVariation disease BEFREE A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent. 23590336 2014
CUI: C0023794
Disease: Lipoidosis
Lipoidosis 		0.010 GeneticVariation disease BEFREE When the PEX2 mutation is placed on an inbred murine genetic background, there is significant embryonic lethality and widespread neuronal lipidosis throughout the brain. 11478384 2002
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 GeneticVariation disease BEFREE The cause of the syndrome in this patient was a point mutation that resulted in the premature termination of peroxisome assembly factor-1. 1546315 1992
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B 		0.700 Biomarker disease GENOMICS_ENGLAND Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene. 21392394 2011
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B 		0.700 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B 		0.700 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B 		0.700 Biomarker disease CTD_human
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B 		0.700 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014