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: rs61752107
rs61752107
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		AAGGC 0.700 CausalMutation 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: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B 		AAGGC 0.700 CausalMutation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009
dbSNP: rs144259891
rs144259891
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C1832200
Disease:
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
dbSNP: rs187526749
rs187526749
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		G 0.700 GeneticVariation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004
dbSNP: rs267608184
rs267608184
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B 		A 0.700 GeneticVariation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004
dbSNP: rs267608184
rs267608184
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		A 0.700 GeneticVariation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004
dbSNP: rs398123301
rs398123301
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B 		A 0.700 CausalMutation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004
dbSNP: rs398123301
rs398123301
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		A 0.700 CausalMutation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004
dbSNP: rs398123301
rs398123301
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		A 0.700 CausalMutation CLINVAR Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. 14571262 2004
dbSNP: rs398123301
rs398123301
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B 		A 0.700 CausalMutation CLINVAR Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. 14571262 2004
dbSNP: rs61752100
rs61752100
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		C 0.700 GeneticVariation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004
dbSNP: rs61752102
rs61752102
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		A 0.700 GeneticVariation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004
dbSNP: rs61752102
rs61752102
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B 		A 0.700 GeneticVariation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004
dbSNP: rs61752106
rs61752106
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B 		A 0.700 GeneticVariation CLINVAR Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. 14571262 2004
dbSNP: rs61752106
rs61752106
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C1832200
Disease:
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
dbSNP: rs61752106
rs61752106
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		A 0.700 GeneticVariation CLINVAR Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. 14571262 2004
dbSNP: rs61752106
rs61752106
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C1832200
Disease:
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
dbSNP: rs61752107
rs61752107
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		AAGGC 0.700 CausalMutation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004
dbSNP: rs398123302
rs398123302
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		T 0.700 GeneticVariation CLINVAR Pex12p of Saccharomyces cerevisiae is a component of a multi-protein complex essential for peroxisomal matrix protein import. 11370741 2001
dbSNP: rs398123302
rs398123302
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B 		T 0.700 GeneticVariation CLINVAR Pex12p of Saccharomyces cerevisiae is a component of a multi-protein complex essential for peroxisomal matrix protein import. 11370741 2001
dbSNP: rs749650201
rs749650201
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B 		T 0.700 GeneticVariation CLINVAR Pex12p of Saccharomyces cerevisiae is a component of a multi-protein complex essential for peroxisomal matrix protein import. 11370741 2001
dbSNP: rs749650201
rs749650201
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		T 0.700 GeneticVariation CLINVAR Pex12p of Saccharomyces cerevisiae is a component of a multi-protein complex essential for peroxisomal matrix protein import. 11370741 2001
dbSNP: rs941358133
rs941358133
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		T 0.700 GeneticVariation CLINVAR Pex12p of Saccharomyces cerevisiae is a component of a multi-protein complex essential for peroxisomal matrix protein import. 11370741 2001
dbSNP: rs941358133
rs941358133
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B 		T 0.700 GeneticVariation CLINVAR Pex12p of Saccharomyces cerevisiae is a component of a multi-protein complex essential for peroxisomal matrix protein import. 11370741 2001
dbSNP: rs398123302
rs398123302
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B 		T 0.700 GeneticVariation CLINVAR Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p. 10837480 2000