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: rs61750409
rs61750409
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		A 0.700 GeneticVariation CLINVAR Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction. 11439091 2001