ABAT, 4-aminobutyrate aminotransferase, 18

N. diseases: 72; N. variants: 20
Source: CURATED ×
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: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 12 0.700 None 1.000 5 12 1998 2019
CUI: C0270824
Disease: Visual seizure
Visual seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0.500 None 1.000 1 1989 2012
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 218 417 0.410 None 1.000 1 1999 2018
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 19 0.400 None 1.000 1 4 1999 2010
CUI: C0424230
Disease: Motor retardation
Motor retardation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 9 8 0.400 None 1.000 1 1999 1999
CUI: C0023380
Disease: Lethargy
Lethargy 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 4 5 0.400 None 1.000 1 1999 1999
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 133 505 0.400 moderate 1.000 1 2016 2016
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		disease Digestive System Diseases Disease or Syndrome 4 31 0.310 None 1.000 1 2011 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 261 181 0.310 None 1.000 1 2005 2005
CUI: C0751473
Disease: Reflex, Ankle, Decreased
Reflex, Ankle, Decreased 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 1999 1999
CUI: C0743002
Disease: Abnormal Deep Tendon Reflex
Abnormal Deep Tendon Reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 1999 1999
CUI: C0751472
Disease: Reflex, Ankle, Abnormal
Reflex, Ankle, Abnormal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 1999 1999
CUI: C0751471
Disease: Reflex, Anal, Decreased
Reflex, Anal, Decreased 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 1999 1999
CUI: C0751470
Disease: Palmo-Mental Reflex
Palmo-Mental Reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 2 0.300 None 1.000 1 1999 1999
CUI: C0751469
Disease: Bulbocavernousus Reflex Absent
Bulbocavernousus Reflex Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 1999 1999
CUI: C0751056
Disease: Non-epileptic convulsion
Non-epileptic convulsion 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 101 0.300 None 1.000 1 1999 1999
CUI: C0751468
Disease: Bulbocavernosus Reflex, Decreased
Bulbocavernosus Reflex, Decreased 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 1999 1999
CUI: C0751456
Disease: Developmental Psychomotor Disorders
Developmental Psychomotor Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 7 0.300 None 1.000 1 1999 1999
CUI: C0751330
Disease: Unilateral Hypotonia
Unilateral Hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 6 1 0.300 None 1.000 1 1999 1999
CUI: C0751123
Disease: Atonic Absence Seizures
Atonic Absence Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0.300 None 1.000 1 1999 1999
CUI: C0751110
Disease: Single Seizure
Single Seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0.300 None 1.000 1 1999 1999
CUI: C0751474
Disease: Reflex, Biceps, Abnormal
Reflex, Biceps, Abnormal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 1999 1999
CUI: C0751475
Disease: Reflex, Biceps, Decreased
Reflex, Biceps, Decreased 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 1999 1999
CUI: C0751476
Disease: Reflex, Gag, Decreased
Reflex, Gag, Decreased 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 1999 1999
CUI: C4505436
Disease: Generalized Absence Seizures
Generalized Absence Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0.300 None 1.000 1 1999 1999