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: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 CausalMutation disease CLINVAR Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 27302843 2016
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 GeneticVariation disease CLINVAR The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders. 26943801 2016
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 GeneticVariation disease CLINVAR Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 27302843 2016
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 GeneticVariation disease CLINVAR Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. 26287655 2016
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		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
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 GeneticVariation disease UNIPROT PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. 26593283 2016
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 CausalMutation disease CLINVAR Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595 2015
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 GeneticVariation disease CLINVAR Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595 2015
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 CausalMutation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 CausalMutation disease CLINVAR Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy. 25079577 2014
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 GeneticVariation disease CLINVAR Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy. 25079577 2014
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 GeneticVariation disease CLINVAR Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. 24016303 2013
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 CausalMutation disease CLINVAR Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. 24016303 2013
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		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
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 GeneticVariation disease UNIPROT Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 GeneticVariation disease CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 CausalMutation disease CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 CausalMutation disease CLINVAR Rational diagnostic strategy for Zellweger syndrome spectrum patients. 19142205 2009
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		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
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 GeneticVariation disease CLINVAR Rational diagnostic strategy for Zellweger syndrome spectrum patients. 19142205 2009
CUI: C3553936
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		0.700 GeneticVariation disease CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009