PEX6, peroxisomal biogenesis factor 6, 5190

N. diseases: 232; N. variants: 58
Disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34324426
rs34324426
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553936
Disease:
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		T 0.700 GeneticVariation CLINVAR The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders. 26943801 2016
dbSNP: rs34324426
rs34324426
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553936
Disease:
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		T 0.700 GeneticVariation CLINVAR Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 27302843 2016
dbSNP: rs34324426
rs34324426
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553936
Disease:
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		T 0.700 GeneticVariation CLINVAR Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595 2015
dbSNP: rs34324426
rs34324426
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553936
Disease:
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		T 0.700 CausalMutation CLINVAR Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595 2015
dbSNP: rs34324426
rs34324426
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553936
Disease:
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		T 0.700 CausalMutation CLINVAR Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy. 25079577 2014
dbSNP: rs34324426
rs34324426
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553936
Disease:
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		T 0.700 GeneticVariation CLINVAR Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy. 25079577 2014
dbSNP: rs34324426
rs34324426
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553936
Disease:
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		T 0.700 GeneticVariation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
dbSNP: rs34324426
rs34324426
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553936
Disease:
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		T 0.700 CausalMutation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009
dbSNP: rs34324426
rs34324426
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553936
Disease:
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 		T 0.700 GeneticVariation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009