GAMT, guanidinoacetate N-methyltransferase, 2593

N. diseases: 62; 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.
CUI: C0018889
Disease: Helminthiasis
Helminthiasis 		disease Infections Disease or Syndrome 59 1 0.010 None 1.000 1 1998 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2013 2013
CUI: C0162429
Disease: Malnutrition
Malnutrition 		disease Nutritional and Metabolic Diseases Disease or Syndrome 417 29 0.010 None 1.000 1 2004 2004
CUI: C0241210
Disease: Speech Delay
Speech Delay 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 58 11 0.010 None 1.000 1 2019 2019
CUI: C0010678
Disease: Cysticercosis
Cysticercosis 		disease Infections Disease or Syndrome 12 2 0.010 None 1.000 1 1998 1998
CUI: C4476570
Disease: Reduced brain creatine level by MRS
Reduced brain creatine level by MRS 		phenotype Finding 3 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: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 41 10 0.100 None 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 0.100 None 0
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.100 None 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0476217
Disease: Head movements abnormal
Head movements abnormal 		phenotype Nervous System Diseases Finding 8 2 0.100 None 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype Finding 130 50 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: 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: C2748610
Disease: Progressive extrapyramidal movement disorder
Progressive extrapyramidal movement disorder 		phenotype Finding 9 0.100 None 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 105 8 0.100 None 0
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 91 9 0.100 None 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.100 None 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 265 34 0.100 None 0
CUI: C0008489
Disease: Chorea
Chorea 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 168 20 0.100 None 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.100 None 0
CUI: C0004158
Disease: Athetosis
Athetosis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 39 3 0.100 None 0
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 197 21 0.100 None 0