PEX6, peroxisomal biogenesis factor 6, 5190

N. diseases: 232; N. variants: 58
Disease: Infantile Refsum Disease (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.310 GeneticVariation disease BEFREE Mutations in either the PEX1 or PEX6 gene are the most common cause of the lethal neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease and account for disease in 80% of all such patients. 9671729 1998
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.310 GermlineCausalMutation disease ORPHANET