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: 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: C3553929
Disease:
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		A 0.700 CausalMutation CLINVAR