NFU1, NFU1 iron-sulfur cluster scaffold, 27247

N. diseases: 25; N. variants: 8
Disease: Encephalopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.030 GeneticVariation group BEFREE Mutations in NFU1 were recently identified in patients with fatal encephalopathy. 26688339 2016
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.030 GeneticVariation group BEFREE Recently an early onset lethal encephalopathy has been described in relation to mutations of NFU1, one of the genes involved in iron-sulfur cluster metabolism. 25758857 2015
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.030 GeneticVariation group BEFREE Mutations in NFU1 were recently identified in patients with fatal encephalopathy displaying a biochemical phenotype consistent with defects in lipoic acid-dependent enzymatic activities and respiratory chain complexes. 23179554 2013