NFS1, NFS1 cysteine desulfurase, 9054

N. diseases: 8; N. variants: 9
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.300 None 1.000 1 2014 2014
CUI: C0919677
Disease: Protein C measurement
Protein C measurement
phenotype Laboratory Procedure 62 522 0.100 None 1.000 1 8 2010 2010
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement
phenotype Laboratory Procedure 62 522 0.100 None 1.000 1 8 2010 2010
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 2235 168 0.010 None 1.000 1 2017 2017
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1486 39 0.010 None 1.000 1 2017 2017
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.010 None 1.000 1 2017 2017
CUI: C0394005
Disease: Ataxic cerebral palsy
Ataxic cerebral palsy
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 25 4 0.010 None 1.000 1 2018 2018
CUI: C0431129
Disease: Adamantinous Craniopharyngioma
Adamantinous Craniopharyngioma
disease Neoplasms Neoplastic Process 48 6 0.010 None 1.000 1 2018 2018