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: 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
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: 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: 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: 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: C0576612
Disease: Reflex, Anal, Absent
Reflex, Anal, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 1999 1999
CUI: C0558847
Disease: Reflex, Biceps, Absent
Reflex, Biceps, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 1999 1999
CUI: C0558846
Disease: Reflex, Triceps, Absent
Reflex, Triceps, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 1999 1999
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 5 0.300 None 1.000 1 1999 1999
CUI: C0522345
Disease: Reflex, Acoustic, Abnormal
Reflex, Acoustic, Abnormal 		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: 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: 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: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 104 0.300 None 1.000 1 1999 1999
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0.300 None 1.000 1 1999 1999
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 5 0.300 None 1.000 1 1999 1999
CUI: C4048158
Disease: Convulsions
Convulsions 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 102 1 0.300 None 1.000 1 1999 1999
CUI: C3495874
Disease: Nonepileptic Seizures
Nonepileptic Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0.300 None 1.000 1 1999 1999
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 6 45 0.300 None 1.000 1 1999 1999