PEX1, peroxisomal biogenesis factor 1, 5189

N. diseases: 235; N. variants: 104
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61750417
rs61750417
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		A 0.700 CausalMutation CLINVAR Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 12402331 2002