NFS1, NFS1 cysteine desulfurase, 9054

N. diseases: 8; N. variants: 9
Disease: Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4750855
Disease: Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency 		0.300 GermlineCausalMutation disease ORPHANET Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency. 24498631 2014