PEX1, peroxisomal biogenesis factor 1, 5189

N. diseases: 235; N. variants: 104
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 GeneticVariation disease CLINVAR Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 9398848 1997
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 GeneticVariation disease UNIPROT Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 9398848 1997
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 GeneticVariation disease UNIPROT Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 9398847 1997
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 CausalMutation disease CLINVAR Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 9398848 1997
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 CausalMutation disease CLINVAR Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 9398847 1997
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 9398848 1997
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 GeneticVariation disease CLINVAR Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 9398847 1997
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 9398847 1997
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 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: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 GeneticVariation disease CLINVAR 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: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 GeneticVariation disease CLINVAR Identification of a common PEX1 mutation in Zellweger syndrome. 10447258 1999
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 CausalMutation disease CLINVAR Identification of a common PEX1 mutation in Zellweger syndrome. 10447258 1999
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 CausalMutation disease CLINVAR Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. 10384394 1999
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 GeneticVariation disease CLINVAR Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels. 11389485 2001
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 GeneticVariation disease CLINVAR Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction. 11439091 2001
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 CausalMutation disease CLINVAR Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels. 11389485 2001
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease. 12032265 2002
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 GeneticVariation disease CLINVAR Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 12402331 2002
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 CausalMutation disease CLINVAR PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease. 12032265 2002
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 GeneticVariation disease CLINVAR PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease. 12032265 2002
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 CausalMutation disease CLINVAR Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 12402331 2002
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 CausalMutation disease CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 CausalMutation disease CLINVAR Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. 15098231 2004
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 GeneticVariation disease CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004