rs61752119
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
PEROXISOME BIOGENESIS DISORDER 5B
0.800
GeneticVariation
UNIPROT
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.
10528859
1999
rs61752119
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
PEROXISOME BIOGENESIS DISORDER 5B
T
0.800
CausalMutation
CLINVAR
rs61752123
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
Peroxisome biogenesis disorders
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
rs61752123
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
Peroxisome biogenesis disorders
A
0.700
CausalMutation
CLINVAR
Carrier frequency of two BBS2 mutations in the Ashkenazi population.
23829372
2014
rs61752123
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
A
0.700
CausalMutation
CLINVAR
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations.
23430938
2012
rs61752123
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
Peroxisome biogenesis disorders
A
0.700
CausalMutation
CLINVAR
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations.
23430938
2012
rs61752122
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
Peroxisome biogenesis disorders
T
0.700
CausalMutation
CLINVAR
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
21031596
2011
rs61752123
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
Peroxisome biogenesis disorders
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
rs61752123
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
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
rs61752124
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
Peroxisome biogenesis disorders
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
rs61752124
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
PEROXISOME BIOGENESIS DISORDER 5B
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
rs61752124
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
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
rs764771123
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
PEROXISOME BIOGENESIS DISORDER 5B
A
0.700
GeneticVariation
CLINVAR
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
21031596
2011
rs764771123
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
Peroxisome biogenesis disorders
A
0.700
CausalMutation
CLINVAR
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
21031596
2011
rs764771123
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
A
0.700
GeneticVariation
CLINVAR
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
21031596
2011
rs267608188
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
PEROXISOME BIOGENESIS DISORDER 5B
C
0.700
GeneticVariation
CLINVAR
Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.
17041890
2006
rs267608188
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
C
0.700
GeneticVariation
CLINVAR
Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.
17041890
2006
rs61752122
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
Peroxisome biogenesis disorders
T
0.700
CausalMutation
CLINVAR
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.
14630978
2004
rs61752123
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
PEROXISOME BIOGENESIS DISORDER 5B
A
0.700
CausalMutation
CLINVAR
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.
14630978
2004
rs61752123
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
PEROXISOME BIOGENESIS DISORDER 5B
A
0.700
CausalMutation
CLINVAR
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
15542397
2004
rs61752123
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
Peroxisome biogenesis disorders
A
0.700
CausalMutation
CLINVAR
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.
14630978
2004
rs61752123
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
A
0.700
CausalMutation
CLINVAR
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
15542397
2004
rs61752123
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
A
0.700
CausalMutation
CLINVAR
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.
14630978
2004
rs61752124
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
PEROXISOME BIOGENESIS DISORDER 5B
A
0.700
GeneticVariation
CLINVAR
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
15542397
2004
rs61752124
×
Entrez Id:
5828
Gene Symbol:
PEX2
PEX2
Peroxisome biogenesis disorders
A
0.700
CausalMutation
CLINVAR
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
15542397
2004