ABAT, 4-aminobutyrate aminotransferase, 18

N. diseases: 127; N. variants: 20
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: 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 2 12 0.700 None 1.000 7 12 1998 2019
CUI: C4274731
Disease: Jeavons syndrome
Jeavons syndrome 		disease Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C0270857
Disease: Epilepsy, Reflex
Epilepsy, Reflex 		disease Nervous System Diseases Disease or Syndrome 3 0.200 None 1.000 1 1998 1998
CUI: C0234784
Disease: Reflex, Gag, Absent
Reflex, Gag, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 1999 1999
CUI: C0241772
Disease: Reflex, Deep Tendon, Absent
Reflex, Deep Tendon, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 1999 1999
CUI: C0277839
Disease: Hoffman's Reflex
Hoffman's Reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 1999 1999
CUI: C0277850
Disease: Reflex, Pendular
Reflex, Pendular 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 1999 1999
CUI: C0278211
Disease: Reflex, Corneal, Absent
Reflex, Corneal, Absent 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: C0751477
Disease: Reflex, Knee, Abnormal
Reflex, Knee, Abnormal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 1999 1999
CUI: C0751478
Disease: Reflex, Knee, Decreased
Reflex, Knee, Decreased 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 1999 1999
CUI: C0751479
Disease: Reflex, Moro, Asymmetric
Reflex, Moro, Asymmetric 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 1999 1999
CUI: C0751480
Disease: Reflex, Triceps, Abnormal
Reflex, Triceps, Abnormal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 1999 1999