SLC6A3, solute carrier family 6 member 3, 6531

N. diseases: 373; N. variants: 38
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: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 155 10 0.100 None 0
CUI: C0813217
Disease: Expressionless face
Expressionless face
phenotype Nervous System Diseases Finding 31 1 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: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 473 62 0.100 None 0
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 232 72 0.100 None 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
disease Digestive System Diseases Disease or Syndrome 446 52 0.100 None 0
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease Nervous System Diseases Disease or Syndrome 241 69 0.100 None 0
CUI: C0152115
Disease: Lingual-Facial-Buccal Dyskinesia
Lingual-Facial-Buccal Dyskinesia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 26 4 0.100 None 0
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion
phenotype Behavior and Behavior Mechanisms Mental Process 147 14 0.100 None 0
CUI: C0086439
Disease: Hypokinesia
Hypokinesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 47 2 0.100 None 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease Mental Disorders Disease or Syndrome 118 59 0.100 None 0
Morphological abnormality of the pyramidal tract
disease Anatomical Abnormality 18 0.100 None 0
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 42 9 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
CUI: C0085637
Disease: Oculogyric crisis
Oculogyric crisis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 9 3 0.100 None 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 77 12 0.100 None 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE
phenotype Finding 140 0.100 None 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.100 None 0
CUI: C0022107
Disease: Irritable Mood
Irritable Mood
phenotype Behavior and Behavior Mechanisms Finding 142 1 0.100 None 0
CUI: C0234650
Disease: Ocular flutter
Ocular flutter
phenotype Finding 2 0.100 None 0
CUI: C1456784
Disease: Paranoia
Paranoia
disease Mental Disorders Mental or Behavioral Dysfunction 35 5 0.310 None 1.000 2 1994 1995
CUI: C0743072
Disease: Depression, psychotic
Depression, psychotic
disease Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 11 2 0.010 None 1.000 1 1995 1995
Severe major depression with psychotic features
disease Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 12 2 0.310 None 1.000 1 1995 1995
Undifferentiated attention deficit disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 1995 1995
CUI: C0018524
Disease: Hallucinations
Hallucinations
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 178 18 0.010 None 1.000 1 1996 1996