Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 CausalMutation disease CLINVAR Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 27302843 2016
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 GeneticVariation disease CLINVAR The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders. 26943801 2016
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 GeneticVariation disease CLINVAR Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 27302843 2016
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 GeneticVariation disease CLINVAR Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. 26287655 2016
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 GeneticVariation disease CLINVAR Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder. 26700162 2016
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 GeneticVariation disease UNIPROT PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. 26593283 2016
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 CausalMutation disease CLINVAR Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595 2015
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 GeneticVariation disease CLINVAR Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595 2015
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 CausalMutation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 CausalMutation disease CLINVAR Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy. 25079577 2014
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 GeneticVariation disease CLINVAR Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy. 25079577 2014
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 GeneticVariation disease CLINVAR Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. 24016303 2013
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 CausalMutation disease CLINVAR Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. 24016303 2013
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 CausalMutation disease CLINVAR A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population. 22894767 2012
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 GeneticVariation disease UNIPROT Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 GeneticVariation disease CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 CausalMutation disease CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 CausalMutation disease CLINVAR Rational diagnostic strategy for Zellweger syndrome spectrum patients. 19142205 2009
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 Biomarker disease GENOMICS_ENGLAND Sensorineural deafness, enamel abnormalities and nail abnormalities: a case report of Heimler syndrome in identical twin girls. 16530715 2009
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 GeneticVariation disease CLINVAR Rational diagnostic strategy for Zellweger syndrome spectrum patients. 19142205 2009
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.700 GeneticVariation disease CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009