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: C0270824
Disease: Visual seizure
Visual seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 209 0.500 None 1.000 4 1989 2012
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.020 None 1.000 2 2017 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2017 2019
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome 		disease Hemic and Lymphatic Diseases Neoplastic Process 335 20 0.020 None 1.000 2 2019 2019
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.020 None 1.000 2 2019 2019
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.410 None 1.000 2 1999 2018
CUI: C0013386
Disease: Dyskinesia, Drug-Induced
Dyskinesia, Drug-Induced 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome 32 0.200 None 1.000 2 1980 1995
CUI: C0037769
Disease: West Syndrome
West Syndrome 		disease Nervous System Diseases Disease or Syndrome 149 28 0.210 None 1.000 2 2014 2017
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome 		disease Hemic and Lymphatic Diseases Neoplastic Process 332 20 0.020 None 1.000 2 2019 2019
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: 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: C0751056
Disease: Non-epileptic convulsion
Non-epileptic convulsion 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 102 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 8 1 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 102 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 102 0.300 None 1.000 1 1999 1999
CUI: C0751229
Disease: Hypersomnolence
Hypersomnolence 		phenotype Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 7 0.010 None 1.000 1 2017 2017
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 185 20 0.010 None 1.000 1 2018 2018
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: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2019 2019
CUI: C0424230
Disease: Motor retardation
Motor retardation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 98 8 0.400 None 1.000 1 1999 1999
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.010 None 1.000 1 2017 2017
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.300 moderate 1.000 1 2016 2016