Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.600 CausalMutation disease CLINVAR Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 27302843 2016
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.600 GeneticVariation disease UNIPROT Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 27302843 2016
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.600 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 		0.600 GeneticVariation disease UNIPROT Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595 2015
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.600 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 		0.600 CausalMutation disease CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.600 CausalMutation disease CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.600 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 		0.600 CausalMutation disease CLINVAR Rational diagnostic strategy for Zellweger syndrome spectrum patients. 19142205 2009
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.600 CausalMutation disease CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.600 GeneticVariation disease UNIPROT Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.600 CausalMutation disease CLINVAR A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. 11873320 2002
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.600 GeneticVariation disease CLINVAR