NFU1, NFU1 iron-sulfur cluster scaffold, 27247

N. diseases: 25; N. variants: 8
Disease: Mitochondrial Myopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.010 GeneticVariation group BEFREE The presence of multiple cellular defects associated with a novel G50E iron-sulfur cluster scaffold protein (ISCU) mutation leads to development of mitochondrial myopathy. 24573684 2014