Gene: PEX2 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752123
rs61752123
PEX2
A 0.700 CausalMutation CLINVAR Detection of unusual very-long-chain fatty acid and ether lipid derivatives in the fibroblasts and plasma of patients with peroxisomal diseases using liquid chromatography-mass spectrometry. 28089346

2017
dbSNP: rs61752123
rs61752123
PEX2
A 0.700 CausalMutation CLINVAR Carrier frequency of two BBS2 mutations in the Ashkenazi population. 23829372

2014
dbSNP: rs61752123
rs61752123
PEX2
A 0.700 CausalMutation CLINVAR Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations. 23430938

2012
dbSNP: rs61752122
rs61752122
PEX2
T 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
dbSNP: rs61752123
rs61752123
PEX2
A 0.700 CausalMutation CLINVAR Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. 21465523

2011
dbSNP: rs61752124
rs61752124
PEX2
A 0.700 CausalMutation CLINVAR Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. 21465523

2011
dbSNP: rs764771123
rs764771123
PEX2
A 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
dbSNP: rs61752122
rs61752122
PEX2
T 0.700 CausalMutation CLINVAR Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. 14630978

2004
dbSNP: rs61752123
rs61752123
PEX2
A 0.700 CausalMutation CLINVAR Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. 14630978

2004
dbSNP: rs61752124
rs61752124
PEX2
A 0.700 CausalMutation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397

2004
dbSNP: rs61752124
rs61752124
PEX2
A 0.700 CausalMutation CLINVAR Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. 10528859

1999
dbSNP: rs61752123
rs61752123
PEX2
A 0.700 CausalMutation CLINVAR Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders. 9585609

1998