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: C1832200
Disease:
Peroxisome biogenesis disorders 		AAGGC 0.700 CausalMutation CLINVAR Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach. 29389947 2018
dbSNP: rs1046321
rs1046321
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C0427460
Disease:
Red cell distribution width determination 		C 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs1046321
rs1046321
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		C 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs398123302
rs398123302
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B 		T 0.700 GeneticVariation CLINVAR Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing. 27763634 2017
dbSNP: rs398123302
rs398123302
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		T 0.700 GeneticVariation CLINVAR Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing. 27763634 2017
dbSNP: rs1046321
rs1046321
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1046321
rs1046321
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C0427460
Disease:
Red cell distribution width determination 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs776731688
rs776731688
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		A 0.700 GeneticVariation CLINVAR Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden. 27124789 2016
dbSNP: rs776731688
rs776731688
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B 		A 0.700 GeneticVariation CLINVAR Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden. 27124789 2016
dbSNP: rs398123301
rs398123301
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		A 0.700 CausalMutation CLINVAR Zellweger syndrome and secondary mitochondrial myopathy. 25287621 2015
dbSNP: rs398123302
rs398123302
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		T 0.700 GeneticVariation CLINVAR The RING-type ubiquitin ligases Pex2p, Pex10p and Pex12p form a heteromeric complex that displays enhanced activity in an ubiquitin conjugating enzyme-selective manner. 22471590 2012
dbSNP: rs398123302
rs398123302
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B 		T 0.700 GeneticVariation CLINVAR The RING-type ubiquitin ligases Pex2p, Pex10p and Pex12p form a heteromeric complex that displays enhanced activity in an ubiquitin conjugating enzyme-selective manner. 22471590 2012
dbSNP: rs749650201
rs749650201
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B 		T 0.700 GeneticVariation CLINVAR The RING-type ubiquitin ligases Pex2p, Pex10p and Pex12p form a heteromeric complex that displays enhanced activity in an ubiquitin conjugating enzyme-selective manner. 22471590 2012
dbSNP: rs749650201
rs749650201
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		T 0.700 GeneticVariation CLINVAR The RING-type ubiquitin ligases Pex2p, Pex10p and Pex12p form a heteromeric complex that displays enhanced activity in an ubiquitin conjugating enzyme-selective manner. 22471590 2012
dbSNP: rs941358133
rs941358133
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3550693
Disease:
PEROXISOME BIOGENESIS DISORDER 3B 		T 0.700 GeneticVariation CLINVAR The RING-type ubiquitin ligases Pex2p, Pex10p and Pex12p form a heteromeric complex that displays enhanced activity in an ubiquitin conjugating enzyme-selective manner. 22471590 2012
dbSNP: rs941358133
rs941358133
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		T 0.700 GeneticVariation CLINVAR The RING-type ubiquitin ligases Pex2p, Pex10p and Pex12p form a heteromeric complex that displays enhanced activity in an ubiquitin conjugating enzyme-selective manner. 22471590 2012
dbSNP: rs144259891
rs144259891
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: rs144259891
rs144259891
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: rs144259891
rs144259891
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: rs1555549855
rs1555549855
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: rs1555549855
rs1555549855
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: rs1567730901
rs1567730901
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: rs187526749
rs187526749
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		G 0.700 GeneticVariation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs267608184
rs267608184
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: rs267608184
rs267608184
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