PEX2, peroxisomal biogenesis factor 2, 5828

N. diseases: 152; N. variants: 13
Disease: PEROXISOME BIOGENESIS DISORDER 5B ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764771123
rs764771123
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3542026
Disease:
PEROXISOME BIOGENESIS DISORDER 5B 		A 0.700 GeneticVariation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011