PEX1, peroxisomal biogenesis factor 1, 5189

N. diseases: 235; N. variants: 104
Disease: Infantile Refsum Disease (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 Biomarker disease CTD_human
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 GermlineCausalMutation disease ORPHANET
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 GeneticVariation disease UNIPROT Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 9398847 1997
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 CausalMutation disease CLINVAR Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 9398847 1997
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 GeneticVariation disease UNIPROT 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: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 Biomarker disease BEFREE Collectively, these results demonstrate temperature-sensitive peroxisome assembly to be responsible for the mildness of the clinical features of PEX1 -defective IRD of CG1. 9817926 1998
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 CausalMutation disease CLINVAR Identification of a common PEX1 mutation in Zellweger syndrome. 10447258 1999
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 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: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 GeneticVariation disease UNIPROT Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction. 11439091 2001
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 Biomarker disease GENOMICS_ENGLAND PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease. 12032265 2002
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 CausalMutation disease CLINVAR Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 12402331 2002
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 GeneticVariation disease CLINVAR Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 12402331 2002
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 GeneticVariation disease UNIPROT Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms. 16088892 2005
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 Biomarker disease GENOMICS_ENGLAND Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations. 16141001 2005
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 CausalMutation disease CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 GeneticVariation disease CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 CausalMutation disease CLINVAR Germinal matrix hemorrhage in Zellweger syndrome. 20952722 2010
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 CausalMutation disease CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 GeneticVariation disease CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 GeneticVariation disease CLINVAR Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence. 21844578 2011
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 CausalMutation disease CLINVAR Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. 25412400 2015
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.720 CausalMutation disease CLINVAR Friedreich Ataxia in Classical Galactosaemia. 26219880 2016