NAXE, NAD(P)HX epimerase, 128240

N. diseases: 41; N. variants: 8
Disease: Leukoencephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.110 GeneticVariation group BEFREE Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy. 27122014 2016
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.110 Biomarker group HPO