PEX6, peroxisomal biogenesis factor 6, 5190

N. diseases: 232; N. variants: 58
Disease: PEROXISOME BIOGENESIS DISORDER 4B ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608240
rs267608240
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		T 0.700 GeneticVariation CLINVAR Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder. 26700162 2016
dbSNP: rs1010184002
rs1010184002
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		T 0.700 GeneticVariation CLINVAR Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice. 26275793 2015
dbSNP: rs267608229
rs267608229
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs34324426
rs34324426
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		T 0.700 CausalMutation CLINVAR Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 26387595 2015
dbSNP: rs61753229
rs61753229
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs863225083
rs863225083
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		C 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: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		T 0.700 CausalMutation CLINVAR Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy. 25079577 2014
dbSNP: rs61753219
rs61753219
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		A 0.700 GeneticVariation CLINVAR Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. 24016303 2013
dbSNP: rs63749004
rs63749004
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		A 0.700 CausalMutation CLINVAR A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population. 22894767 2012
dbSNP: rs267608216
rs267608216
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		A 0.700 CausalMutation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
dbSNP: rs267608227
rs267608227
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		T 0.700 CausalMutation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
dbSNP: rs267608240
rs267608240
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		T 0.700 GeneticVariation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
dbSNP: rs267608241
rs267608241
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		A 0.700 CausalMutation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
dbSNP: rs61753209
rs61753209
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		A 0.700 GeneticVariation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
dbSNP: rs61753212
rs61753212
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		C 0.700 CausalMutation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
dbSNP: rs61753219
rs61753219
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		A 0.700 GeneticVariation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
dbSNP: rs61753229
rs61753229
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		T 0.700 GeneticVariation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
dbSNP: rs267608216
rs267608216
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		A 0.700 CausalMutation CLINVAR Rational diagnostic strategy for Zellweger syndrome spectrum patients. 19142205 2009
dbSNP: rs267608227
rs267608227
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		T 0.700 CausalMutation CLINVAR Rational diagnostic strategy for Zellweger syndrome spectrum patients. 19142205 2009
dbSNP: rs267608229
rs267608229
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		T 0.700 CausalMutation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009
dbSNP: rs267608240
rs267608240
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		T 0.700 GeneticVariation CLINVAR Rational diagnostic strategy for Zellweger syndrome spectrum patients. 19142205 2009
dbSNP: rs34324426
rs34324426
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		T 0.700 CausalMutation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009
dbSNP: rs267608229
rs267608229
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		T 0.700 CausalMutation CLINVAR Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis. 15858711 2005
dbSNP: rs61753212
rs61753212
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		C 0.700 CausalMutation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004
dbSNP: rs61753219
rs61753219
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		A 0.700 GeneticVariation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004