NAGS, N-acetylglutamate synthase, 162417

N. diseases: 58; N. variants: 18
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.
Increased level of L-glutamic acid in blood
phenotype Finding 1 0.100 None 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C0338614
Disease: Psychotic episodes
Psychotic episodes
disease Mental Disorders Mental or Behavioral Dysfunction 31 6 0.100 None 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 33 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 473 62 0.100 None 0
CUI: C0232462
Disease: Decrease in appetite
Decrease in appetite
phenotype Digestive System Diseases; Nervous System Diseases; Mental Disorders Sign or Symptom 62 7 0.100 None 0
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy
disease Nervous System Diseases Disease or Syndrome 156 32 0.100 None 0
CUI: C0085633
Disease: Mood swings
Mood swings
disease Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 171 1 0.100 None 0
CUI: C0085631
Disease: Agitation
Agitation
phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 109 4 0.100 None 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 457 64 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: C0917798
Disease: Cerebral Ischemia
Cerebral Ischemia
disease Nervous System Diseases; Cardiovascular Diseases Pathologic Function 120 2 0.100 None 0
CUI: C0917801
Disease: Sleeplessness
Sleeplessness
phenotype Nervous System Diseases; Mental Disorders Sign or Symptom 174 30 0.100 None 0
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0
phenotype Finding 87 0.100 None 0
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.100 None 0
CUI: C2830004
Disease: Somnolence
Somnolence
phenotype Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 87 8 0.100 None 0
CUI: C1963099
Disease: Myelodysplasia, CTCAE
Myelodysplasia, CTCAE
phenotype Finding 68 0.100 None 0
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0
phenotype Finding 87 0.100 None 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 118 24 0.100 None 0
CUI: C1859506
Disease: Acute hyperammonemia
Acute hyperammonemia
phenotype Pathological Conditions, Signs and Symptoms Finding 5 1 0.100 None 0
CUI: C1850413
Disease: Reye syndrome-like episodes
Reye syndrome-like episodes
phenotype Finding 4 0.100 None 0
CUI: C1848207
Disease: Poor speech
Poor speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 208 9 0.100 None 0
CUI: C1839533
Disease: Hyperglutaminemia
Hyperglutaminemia
phenotype Finding 5 0.100 None 0
CUI: C0042963
Disease: Vomiting
Vomiting
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 303 23 0.100 None 0