Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		0.720 CausalMutation disease CLINVAR Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. 28468868 2017
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		0.720 CausalMutation disease CLINVAR Diagnosis of a mild peroxisomal phenotype with next-generation sequencing. 27872819 2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		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
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		0.720 CausalMutation disease CLINVAR Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. 26287655 2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		0.720 CausalMutation disease CLINVAR Friedreich Ataxia in Classical Galactosaemia. 26219880 2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		0.720 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		0.720 CausalMutation disease CLINVAR Low bone mineral density is a common feature of Zellweger spectrum disorders. 26643206 2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		0.720 CausalMutation disease CLINVAR Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections. 27090541 2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		0.720 GeneticVariation disease 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 		0.720 CausalMutation disease CLINVAR Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations. 27882258 2016
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		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
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		0.720 CausalMutation disease 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 		0.720 GeneticVariation disease 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 		0.720 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		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
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		0.720 CausalMutation disease 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 		0.720 GeneticVariation disease 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 		0.720 CausalMutation disease CLINVAR Germinal matrix hemorrhage in Zellweger syndrome. 20952722 2010
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		0.720 CausalMutation disease 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 		0.720 GeneticVariation disease 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 		0.720 Biomarker disease GENOMICS_ENGLAND Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations. 16141001 2005
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		0.720 GeneticVariation disease UNIPROT Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms. 16088892 2005
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		0.720 CausalMutation disease CLINVAR Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 12402331 2002
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		0.720 GeneticVariation disease CLINVAR Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 12402331 2002
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		0.720 Biomarker disease GENOMICS_ENGLAND PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease. 12032265 2002