NFU1, NFU1 iron-sulfur cluster scaffold, 27247

N. diseases: 25; N. variants: 8
Disease: Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy 		0.010 GeneticVariation group BEFREE Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. 18304497 2008