Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 CausalMutation CLINVAR Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. 28468868

2017
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 CausalMutation CLINVAR Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations. 27882258

2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 CausalMutation CLINVAR Friedreich Ataxia in Classical Galactosaemia. 26219880

2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 CausalMutation CLINVAR Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. 26287655

2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 CausalMutation CLINVAR Diagnosis of a mild peroxisomal phenotype with next-generation sequencing. 27872819

2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 CausalMutation CLINVAR Low bone mineral density is a common feature of Zellweger spectrum disorders. 26643206

2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 CausalMutation CLINVAR Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections. 27090541

2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 GeneticVariation CLINVAR Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. 27353947

2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 GeneticVariation CLINVAR Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections. 27090541

2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 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
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 CausalMutation CLINVAR Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595

2015
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 GeneticVariation CLINVAR Repository of mutations from Oman: The entry point to a national mutation database. 26594346

2015
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 CausalMutation CLINVAR The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder. 24503136

2014
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 CausalMutation CLINVAR Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing. 23247051

2013
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 GeneticVariation CLINVAR Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing. 23247051

2013
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 GeneticVariation CLINVAR Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients. 21846392

2011
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 CausalMutation CLINVAR Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients. 21846392

2011
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 GeneticVariation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 GeneticVariation CLINVAR Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence. 21844578

2011
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 CausalMutation CLINVAR Germinal matrix hemorrhage in Zellweger syndrome. 20952722

2010
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 GeneticVariation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186

2009
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 CausalMutation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186

2009
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.600 GeneticVariation CLINVAR PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. 16086329

2005