PEX6, peroxisomal biogenesis factor 6, 5190

N. diseases: 232; N. variants: 58
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 GeneticVariation disease BEFREE Herein, tests were done on an Iranian cohort to evaluate the association of miRNA-related polymorphisms in miR-423 (rs6505162) and peroxisomal biogenesis factor 6 (PEX6) (rs1129186 within a miR-149-5p-binding site) with the risk of ESCC risk. 28430524 2017
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia 		0.010 Biomarker disease BEFREE We propose PEX6, and possibly other peroxisomal genes, as candidate for the rare cooccurrence of deafblindness and enamel dysplasia. 26593283 2016
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 GeneticVariation disease BEFREE The results imply that variants associated with prostate cancer can be identified through expressional change in the PEX6 gene, but not in the overlapped glycine N-methyltransferase gene which had been considered as a candidate gene.Further studies are required to understand their underlying mechanisms for the strong eQTLs for the SNHG5 and PEX6 genes. 28033303 2016
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 GeneticVariation disease BEFREE The results imply that variants associated with prostate cancer can be identified through expressional change in the PEX6 gene, but not in the overlapped glycine N-methyltransferase gene which had been considered as a candidate gene.Further studies are required to understand their underlying mechanisms for the strong eQTLs for the SNHG5 and PEX6 genes. 28033303 2016
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.010 GeneticVariation disease BEFREE We describe a new patient with late-onset Zellweger spectrum disorder caused by PEX6 mutations who presented with an acute neurodegenerative disease course mimicking X-linked adrenoleukodystrophy. 25079577 2014
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 GeneticVariation group BEFREE We describe a new patient with late-onset Zellweger spectrum disorder caused by PEX6 mutations who presented with an acute neurodegenerative disease course mimicking X-linked adrenoleukodystrophy. 25079577 2014
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.010 Biomarker disease BEFREE A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. 11873320 2002
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.010 Biomarker disease LHGDN A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. 11873320 2002
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 GeneticVariation group BEFREE Mutations in either the PEX1 or PEX6 gene are the most common cause of the lethal neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease and account for disease in 80% of all such patients. 9671729 1998
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		0.020 GeneticVariation disease BEFREE Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. 29220678 2017
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		0.020 GeneticVariation disease BEFREE Molecular testing identified disease-causing compound heterozygous mutations in the PEX6 gene supporting the Zellweger spectrum disorder diagnosis in this patient. 25079577 2014
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. 26593283 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. 26593283 2016
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Genetics and molecular basis of human peroxisome biogenesis disorders. 22871920 2012
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.100 GeneticVariation phenotype GWASDB The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes. 22286170 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Genetics and molecular basis of human peroxisome biogenesis disorders. 22871920 2012
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Peroxisome biogenesis disorders. 17055079 2006
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Peroxisome biogenesis disorders. 17055079 2006
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. 15098231 2004
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Metabolic and molecular basis of peroxisomal disorders: a review. 15098234 2004
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. 15098231 2004
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Metabolic and molecular basis of peroxisomal disorders: a review. 15098234 2004