NADK2, NAD kinase 2, mitochondrial, 133686

N. diseases: 42; N. variants: 0
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.
CUI: C1857252
Disease: 2,4-Dienoyl-CoA Reductase Deficiency
2,4-Dienoyl-CoA Reductase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.600 moderate 1.000 5 2012 2018
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 5 0.120 None 0.500 2 2014 2018
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.110 None 1.000 1 2016 2016
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C1845029
Disease: Nonprogressive cerebellar ataxia
Nonprogressive cerebellar ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 9 1 0.100 None 0
CUI: C1844394
Disease: Decreased activity of NADPH oxidase
Decreased activity of NADPH oxidase 		phenotype Finding 5 0.100 None 0
CUI: C1838578
Disease: Progressive encephalopathy
Progressive encephalopathy 		phenotype Nervous System Diseases Finding 14 5 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C1142132
Disease: Carnitine deficiency
Carnitine deficiency 		phenotype Finding 15 1 0.100 None 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype Finding 146 7 0.100 None 0
CUI: C1859736
Disease: Progressive spastic quadriplegia
Progressive spastic quadriplegia 		phenotype Finding 12 2 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype Finding 477 0.100 None 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function 136 27 0.100 None 0
CUI: C4025278
Disease: Stress/infection-induced lactic acidosis
Stress/infection-induced lactic acidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 4 0.100 None 0
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		phenotype Anatomical Abnormality 7 1 0.100 None 0
CUI: C4015009
Disease: Decreased plasma free carnitine
Decreased plasma free carnitine 		phenotype Finding 2 0.100 None 0
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 158 1 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype Finding 427 32 0.100 None 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 169 45 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 190 27 0.100 None 0