NFU1, NFU1 iron-sulfur cluster scaffold, 27247

N. diseases: 25; 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 		0.020 GeneticVariation group BEFREE Our case clearly suggests the importance of considering NFU1 mutation in slowly evolving leukoencephalopathy with high glycine concentration. 25758857 2015
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.020 Biomarker group BEFREE Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency. 24462778 2014