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: rs61752122
rs61752122
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease:
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs61752127
rs61752127
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3542026
Disease:
PEROXISOME BIOGENESIS DISORDER 5B 		T 0.700 CausalMutation CLINVAR
dbSNP: rs61752128
rs61752128
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease:
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs724160029
rs724160029
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3542026
Disease:
PEROXISOME BIOGENESIS DISORDER 5B 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs764771123
rs764771123
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease:
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		A 0.700 CausalMutation CLINVAR
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: 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: 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: rs61752124
rs61752124
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease:
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		A 0.700 GeneticVariation CLINVAR A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome. 9452066 1998
dbSNP: rs61752124
rs61752124
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3542026
Disease:
PEROXISOME BIOGENESIS DISORDER 5B 		A 0.700 GeneticVariation 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: C1832200
Disease:
Peroxisome biogenesis disorders 		A 0.700 CausalMutation CLINVAR Carrier frequency of two BBS2 mutations in the Ashkenazi population. 23829372 2014
dbSNP: rs61752119
rs61752119
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3542026
Disease:
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
dbSNP: rs61752123
rs61752123
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease:
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		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: rs61752124
rs61752124
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		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: rs61752124
rs61752124
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3542026
Disease:
PEROXISOME BIOGENESIS DISORDER 5B 		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
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3553940
Disease:
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		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