PEX1, peroxisomal biogenesis factor 1, 5189

N. diseases: 235; N. variants: 104
Disease: Peroxisomal Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders 		0.110 Biomarker group BEFREE These results demonstrate that PEX1 is the causative gene for CG-I peroxisomal disorders. 9539740 1998
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders 		0.110 CausalMutation group CLINVAR