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: rs61752123
rs61752123
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3542026
Disease:
PEROXISOME BIOGENESIS DISORDER 5B 		A 0.700 CausalMutation CLINVAR Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. 14630978 2004
dbSNP: rs61752123
rs61752123
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3542026
Disease:
PEROXISOME BIOGENESIS DISORDER 5B 		A 0.700 CausalMutation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004
dbSNP: rs61752123
rs61752123
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C3542026
Disease:
PEROXISOME BIOGENESIS DISORDER 5B 		A 0.700 CausalMutation CLINVAR A human gene responsible for Zellweger syndrome that affects peroxisome assembly. 1546315 1992