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.
Guanidinoacetate methyltransferase deficiency
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 3 18 0.940 definitive 1.000 30 18 1940 2017
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.600 strong 1.000 2 2005 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.600 strong 1.000 2 1996 2005
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.400 limited 1.000 1 2014 2014
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 143 6 0.400 None 1.000 1 2005 2005
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.400 None 1.000 1 2005 2005
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 140 5 0.400 None 1.000 1 2005 2005
CUI: C0270824
Disease: Visual seizure
Visual seizure
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 209 0.300 None 1.000 1 2005 2005
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 108 0.300 None 1.000 1 2005 2005
CUI: C0422853
Disease: Olfactory seizure
Olfactory seizure
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2005 2005
CUI: C0422850
Disease: Seizures, Somatosensory
Seizures, Somatosensory
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 102 0.300 None 1.000 1 2005 2005
CUI: C0422852
Disease: Seizures, Auditory
Seizures, Auditory
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 102 0.300 None 1.000 1 2005 2005
CUI: C0751496
Disease: Seizures, Sensory
Seizures, Sensory
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 102 0.300 None 1.000 1 2005 2005
CUI: C0422854
Disease: Gustatory seizure
Gustatory seizure
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 102 0.300 None 1.000 1 2005 2005
CUI: C0422855
Disease: Vertiginous seizure
Vertiginous seizure
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2005 2005
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 15 0.300 None 1.000 1 2005 2005
CUI: C0751494
Disease: Convulsive Seizures
Convulsive Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 117 0.300 None 1.000 1 2005 2005
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 2005 2005
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 2005 2005
Amino Acid Metabolism, Inherited Disorders
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13 0.300 None 1.000 1 2005 2005
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 2005 2005
CUI: C0234535
Disease: Clonic Seizures
Clonic Seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 122 0.300 None 1.000 1 2005 2005
CUI: C0234533
Disease: Generalized seizures
Generalized seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 13 0.300 None 1.000 1 2005 2005
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 250 7 0.300 None 1.000 1 2005 2005
CUI: C4505436
Disease: Generalized Absence Seizures
Generalized Absence Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2005 2005