PEX6, peroxisomal biogenesis factor 6, 5190

N. diseases: 232; N. variants: 58
Disease: PEROXISOME BIOGENESIS DISORDER 4B ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61753212
rs61753212
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		C 0.700 CausalMutation CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
dbSNP: rs61753212
rs61753212
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C3553937
Disease:
PEROXISOME BIOGENESIS DISORDER 4B 		C 0.700 CausalMutation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004