PEX1, peroxisomal biogenesis factor 1, 5189

N. diseases: 235; N. variants: 104
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: rs398123408
rs398123408
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		ATCCACACTG 0.700 CausalMutation CLINVAR Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients. 21846392 2011
dbSNP: rs398123408
rs398123408
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		ATCCACACTG 0.700 CausalMutation CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009
dbSNP: rs398123408
rs398123408
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		ATCCACACTG 0.700 CausalMutation CLINVAR PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease. 12032265 2002
dbSNP: rs398123408
rs398123408
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C1832200
Disease:
Peroxisome biogenesis disorders 		ATCCACACTG 0.700 CausalMutation CLINVAR Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 9398847 1997