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: 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: 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: rs267608240
rs267608240
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		T 0.700 GeneticVariation CLINVAR The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6. 11355018 2001