PEX1, peroxisomal biogenesis factor 1, 5189

N. diseases: 235; N. variants: 104
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61750420
rs61750420
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		T 0.800 CausalMutation CLINVAR Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations. 27882258 2016
dbSNP: rs61750420
rs61750420
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		T 0.800 CausalMutation CLINVAR Friedreich Ataxia in Classical Galactosaemia. 26219880 2016
dbSNP: rs61750420
rs61750420
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		T 0.800 CausalMutation CLINVAR Low bone mineral density is a common feature of Zellweger spectrum disorders. 26643206 2016
dbSNP: rs61750420
rs61750420
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		T 0.800 CausalMutation CLINVAR Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. 26287655 2016
dbSNP: rs61750420
rs61750420
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		T 0.800 CausalMutation CLINVAR Diagnosis of a mild peroxisomal phenotype with next-generation sequencing. 27872819 2016
dbSNP: rs61750420
rs61750420
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		T 0.800 CausalMutation CLINVAR Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections. 27090541 2016
dbSNP: rs61750420
rs61750420
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		T 0.800 CausalMutation 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
dbSNP: rs61750420
rs61750420
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		T 0.800 CausalMutation CLINVAR The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder. 24503136 2014
dbSNP: rs61750420
rs61750420
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		T 0.800 CausalMutation CLINVAR Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients. 21846392 2011
dbSNP: rs61750420
rs61750420
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		T 0.800 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61750420
rs61750420
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.800 GeneticVariation UNIPROT Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009
dbSNP: rs61750420
rs61750420
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		T 0.800 CausalMutation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009
dbSNP: rs61750420
rs61750420
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		T 0.800 CausalMutation CLINVAR Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations. 16141001 2005
dbSNP: rs61750420
rs61750420
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		T 0.800 CausalMutation CLINVAR Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. 15098231 2004
dbSNP: rs61750420
rs61750420
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		T 0.800 CausalMutation CLINVAR Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 12402331 2002
dbSNP: rs61750420
rs61750420
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		T 0.800 CausalMutation CLINVAR Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels. 11389485 2001
dbSNP: rs61750420
rs61750420
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		T 0.800 CausalMutation CLINVAR Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. 10384394 1999
dbSNP: rs61750420
rs61750420
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		T 0.800 CausalMutation CLINVAR Identification of a common PEX1 mutation in Zellweger syndrome. 10447258 1999
dbSNP: rs61750420
rs61750420
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.800 GeneticVariation 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
dbSNP: rs61750420
rs61750420
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		T 0.800 CausalMutation CLINVAR Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 9398847 1997
dbSNP: rs61750420
rs61750420
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.800 GeneticVariation UNIPROT Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 9398848 1997
dbSNP: rs61750420
rs61750420
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.800 GeneticVariation UNIPROT Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 9398847 1997
dbSNP: rs61750420
rs61750420
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		T 0.800 CausalMutation CLINVAR Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 9398848 1997