Gene: PEX6 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61753230
rs61753230
PEX6
A 0.700 CausalMutation CLINVAR Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. 29220678

2017
dbSNP: rs267608216
rs267608216
PEX6
A 0.700 CausalMutation CLINVAR Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 27302843

2016
dbSNP: rs267608240
rs267608240
PEX6
T 0.700 CausalMutation CLINVAR Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder. 26700162

2016
dbSNP: rs267608216
rs267608216
PEX6
A 0.700 CausalMutation CLINVAR Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. 24016303

2013
dbSNP: rs267608227
rs267608227
PEX6
T 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
dbSNP: rs267608249
rs267608249
PEX6
G 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
dbSNP: rs772869377
rs772869377
PEX6
T 0.700 GeneticVariation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
dbSNP: rs267608216
rs267608216
PEX6
A 0.700 CausalMutation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282

2010
dbSNP: rs267608227
rs267608227
PEX6
T 0.700 CausalMutation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282

2010
dbSNP: rs267608240
rs267608240
PEX6
T 0.700 CausalMutation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282

2010
dbSNP: rs267608249
rs267608249
PEX6
G 0.700 CausalMutation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282

2010
dbSNP: rs267608216
rs267608216
PEX6
A 0.700 CausalMutation CLINVAR Rational diagnostic strategy for Zellweger syndrome spectrum patients. 19142205

2009
dbSNP: rs267608227
rs267608227
PEX6
T 0.700 CausalMutation CLINVAR Rational diagnostic strategy for Zellweger syndrome spectrum patients. 19142205

2009
dbSNP: rs267608240
rs267608240
PEX6
T 0.700 CausalMutation CLINVAR Rational diagnostic strategy for Zellweger syndrome spectrum patients. 19142205

2009
dbSNP: rs61753230
rs61753230
PEX6
A 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
PEX6
T 0.700 CausalMutation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397

2004
dbSNP: rs267608240
rs267608240
PEX6
T 0.700 CausalMutation CLINVAR The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6. 11355018

2001
dbSNP: rs1491384052
rs1491384052
PEX6
CA 0.700 GeneticVariation CLINVAR Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans. 8940266

1996
dbSNP: rs267608249
rs267608249
PEX6
G 0.700 CausalMutation CLINVAR The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. 8670792

1996
dbSNP: rs1554127491
rs1554127491
PEX6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs267608241
rs267608241
PEX6
A 0.700 CausalMutation CLINVAR

dbSNP: rs61753224
rs61753224
PEX6
A 0.700 CausalMutation CLINVAR

dbSNP: rs755716911
rs755716911
PEX6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs763459576
rs763459576
PEX6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs781475201
rs781475201
PEX6
T 0.700 CausalMutation CLINVAR