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: rs1057517518
rs1057517518
Entrez Id: 5189;57798
Gene Symbol: PEX1;GATAD1
PEX1;GATAD1
CUI: C4721541
Disease:
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		T 0.700 GeneticVariation CLINVAR Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. 27353947 2016