Gene: PEX2 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752119
rs61752119
PEX2
T 0.800 CausalMutation CLINVAR

dbSNP: rs61752124
rs61752124
PEX2
A 0.700 GeneticVariation 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 GeneticVariation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
dbSNP: rs267608188
rs267608188
PEX2
C 0.700 GeneticVariation CLINVAR Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients. 17041890

2006
dbSNP: rs61752123
rs61752123
PEX2
A 0.700 CausalMutation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397

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 GeneticVariation 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 GeneticVariation CLINVAR Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. 10528859

1999
dbSNP: rs61752124
rs61752124
PEX2
A 0.700 GeneticVariation CLINVAR A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome. 9452066

1998
dbSNP: rs61752123
rs61752123
PEX2
A 0.700 CausalMutation CLINVAR A human gene responsible for Zellweger syndrome that affects peroxisome assembly. 1546315

1992
dbSNP: rs1554584474
rs1554584474
PEX2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554584487
rs1554584487
PEX2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554584505
rs1554584505
PEX2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs200065382
rs200065382
PEX2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs61752127
rs61752127
PEX2
T 0.700 CausalMutation CLINVAR

dbSNP: rs724160029
rs724160029
PEX2
CT 0.700 CausalMutation CLINVAR