PEX12, peroxisomal biogenesis factor 12, 5193

N. diseases: 126; N. variants: 41
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		A 0.700 CausalMutation CLINVAR