PEX1, peroxisomal biogenesis factor 1, 5189

N. diseases: 235; N. variants: 104
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 GeneticVariation disease BEFREE Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants. 31628608 2020
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 GeneticVariation disease BEFREE Novel compound heterozygous mutations in the PEX1 gene in two Chinese newborns with Zellweger syndrome based on whole exome sequencing. 28432012 2017
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 Biomarker disease CTD_human Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities. 26319495 2015
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 GeneticVariation disease BEFREE Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing. 23247051 2013
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 GeneticVariation disease BEFREE Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infant. 22378672 2012
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 GeneticVariation disease BEFREE Mutations in PEX1 are the most common primary cause of Zellweger syndrome. 21846392 2011
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 Biomarker disease BEFREE We found that remnant peroxisomes in fibroblasts from patients with PEX1-null Zellweger syndrome or D-BP deficiency exhibited clustering and loss of alignment along peripheral microtubules. 16449325 2006
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 GeneticVariation disease LHGDN PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. 16086329 2005
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 GeneticVariation disease BEFREE To exclude that genetic differences, resulting in different defects in peroxisomal biogenesis, have differential effects on the activity of the cholesterol biosynthetic enzymes and on de novo cholesterol biosynthesis, we chose fibroblasts of patients with defined defects in one of four different PEX genes leading to Zellweger syndrome (PEX1, PEX5, PEX16 or PEX19). 14680974 2003
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 Biomarker disease LHGDN Study of mutant proteins with folding defects in cultured patient cells. 12840548 2003
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 Biomarker disease BEFREE A complete lack of PEX1 protein was found to be associated with severe ZS; however, residual amounts of PEX1 protein were found in patients with the milder phenotypes, NALD and IRD. 11389485 2001
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 GeneticVariation disease BEFREE However, previous studies have focused on mildly affected patients and there is still no report of two mutant PEX1 alleles in any Zellweger syndrome patient. 10447258 1999
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 Biomarker disease CTD_human To address the molecular basis of disease in Zellweger syndrome patients from CG1, we examined all 24 PEX1 exons in four patients, including both patients that have mutations in PMP70. 10447258 1999
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 GeneticVariation disease BEFREE A Zellweger syndrome patient who was homozygous for this mutation and who survived for less than two months from birth had undetectable levels of PEX1 mRNA. 10480353 1999
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 Biomarker disease BEFREE Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. 9539740 1998
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 Biomarker disease CTD_human Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. 9539740 1998
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 9398847 1997
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 9398848 1997
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 Biomarker disease MGD
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 CausalMutation disease CLINVAR Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. 28468868 2017
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 CausalMutation disease CLINVAR Diagnosis of a mild peroxisomal phenotype with next-generation sequencing. 27872819 2016
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 Biomarker disease GENOMICS_ENGLAND Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene. 27633571 2016
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 CausalMutation disease CLINVAR Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. 26287655 2016
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 CausalMutation disease CLINVAR Friedreich Ataxia in Classical Galactosaemia. 26219880 2016
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016