PEX2, peroxisomal biogenesis factor 2, 5828

N. diseases: 152; N. variants: 13
Disease: Peroxisome biogenesis disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752122
rs61752122
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		T 0.700 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
dbSNP: rs61752122
rs61752122
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		T 0.700 CausalMutation CLINVAR Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. 14630978 2004