NFU1, NFU1 iron-sulfur cluster scaffold, 27247

N. diseases: 25; N. variants: 8
Disease: Hyperglycinemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268559
Disease: Hyperglycinemia
Hyperglycinemia 		0.010 Biomarker phenotype BEFREE Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency. 24462778 2014