PEX2, peroxisomal biogenesis factor 2, 5828

N. diseases: 152; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752119
rs61752119
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3542026
Disease:
PEROXISOME BIOGENESIS DISORDER 5B 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1554584474
rs1554584474
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease:
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554584474
rs1554584474
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3542026
Disease:
PEROXISOME BIOGENESIS DISORDER 5B 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554584487
rs1554584487
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease:
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554584487
rs1554584487
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3542026
Disease:
PEROXISOME BIOGENESIS DISORDER 5B 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554584505
rs1554584505
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease:
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554584505
rs1554584505
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3542026
Disease:
PEROXISOME BIOGENESIS DISORDER 5B 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs200065382
rs200065382
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3542026
Disease:
PEROXISOME BIOGENESIS DISORDER 5B 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs200065382
rs200065382
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease:
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs267608188
rs267608188
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3542026
Disease:
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
dbSNP: rs267608188
rs267608188
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease:
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
dbSNP: rs61752122
rs61752122
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C1832200
Disease:
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
dbSNP: rs61752122
rs61752122
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease:
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs61752122
rs61752122
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C1832200
Disease:
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
dbSNP: rs61752123
rs61752123
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C1832200
Disease:
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
dbSNP: rs61752123
rs61752123
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease:
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		A 0.700 CausalMutation CLINVAR A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome. 9452066 1998
dbSNP: rs61752123
rs61752123
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3542026
Disease:
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
dbSNP: rs61752123
rs61752123
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		A 0.700 CausalMutation CLINVAR Carrier frequency of two BBS2 mutations in the Ashkenazi population. 23829372 2014
dbSNP: rs61752123
rs61752123
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C1832200
Disease:
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
dbSNP: rs61752123
rs61752123
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3542026
Disease:
PEROXISOME BIOGENESIS DISORDER 5B 		A 0.700 CausalMutation CLINVAR A human gene responsible for Zellweger syndrome that affects peroxisome assembly. 1546315 1992
dbSNP: rs61752123
rs61752123
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		A 0.700 CausalMutation CLINVAR Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders. 9585609 1998
dbSNP: rs61752123
rs61752123
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease:
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		A 0.700 CausalMutation CLINVAR Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders. 9585609 1998
dbSNP: rs61752123
rs61752123
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease:
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		A 0.700 CausalMutation CLINVAR A human gene responsible for Zellweger syndrome that affects peroxisome assembly. 1546315 1992
dbSNP: rs61752123
rs61752123
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3542026
Disease:
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
dbSNP: rs61752123
rs61752123
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease:
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		A 0.700 CausalMutation CLINVAR Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect. 7681622 1993