PEX12, peroxisomal biogenesis factor 12, 5193

N. diseases: 126; N. variants: 41
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123301
rs398123301
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C1832200
Disease:
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
dbSNP: rs398123301
rs398123301
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		A 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs398123301
rs398123301
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B 		A 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61752100
rs61752100
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B 		C 0.700 GeneticVariation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61752100
rs61752100
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		C 0.700 GeneticVariation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61752100
rs61752100
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		C 0.700 GeneticVariation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61752102
rs61752102
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B 		A 0.700 GeneticVariation CLINVAR Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs. 20681997 2011
dbSNP: rs61752102
rs61752102
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B 		A 0.700 GeneticVariation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61752102
rs61752102
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		A 0.700 GeneticVariation CLINVAR Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs. 20681997 2011
dbSNP: rs61752102
rs61752102
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		A 0.700 GeneticVariation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61752103
rs61752103
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B 		A 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61752103
rs61752103
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		A 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61752105
rs61752105
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		A 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61752105
rs61752105
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B 		A 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61752106
rs61752106
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		A 0.700 GeneticVariation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61752106
rs61752106
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C1832200
Disease:
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
dbSNP: rs61752106
rs61752106
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B 		A 0.700 GeneticVariation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61752107
rs61752107
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		AAGGC 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61752108
rs61752108
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B 		TA 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61752108
rs61752108
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		TA 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61752107
rs61752107
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		AAGGC 0.700 CausalMutation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
dbSNP: rs187526749
rs187526749
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		G 0.700 GeneticVariation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009
dbSNP: rs187526749
rs187526749
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		G 0.700 GeneticVariation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009
dbSNP: rs61752107
rs61752107
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		AAGGC 0.700 GeneticVariation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009
dbSNP: rs61752107
rs61752107
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		AAGGC 0.700 CausalMutation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009