NFS1, NFS1 cysteine desulfurase, 9054

N. diseases: 8; N. variants: 9
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
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
CUI: C0394005
Disease: Ataxic cerebral palsy
Ataxic cerebral palsy 		0.010 Biomarker disease BEFREE In the absence of FXN, the NFS1-ISD11-ACP (SDA) complex was reportedly inhibited by binding of recombinant ISCU. 30031876 2018
CUI: C0431129
Disease: Adamantinous Craniopharyngioma
Adamantinous Craniopharyngioma 		0.010 Biomarker disease BEFREE In the absence of FXN, the NFS1-ISD11-ACP (SDA) complex was reportedly inhibited by binding of recombinant ISCU. 30031876 2018
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 AlteredExpression group BEFREE Consistent with a role in surviving the high oxygen environment of incipient lung tumours, NFS1 lies in a region of genomic amplification present in lung adenocarcinoma and is most highly expressed in well-differentiated adenocarcinomas. 29168506 2017
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.010 Biomarker group BEFREE NFS1 undergoes positive selection in lung tumours and protects cells from ferroptosis. 29168506 2017
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 Biomarker disease BEFREE Consistent with a role in surviving the high oxygen environment of incipient lung tumours, NFS1 lies in a region of genomic amplification present in lung adenocarcinoma and is most highly expressed in well-differentiated adenocarcinomas. 29168506 2017