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: 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