SLC18A2, solute carrier family 18 member A2, 6571

N. diseases: 150; 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: C0236701
Disease: Cocaine-induced mood disorder
Cocaine-induced mood disorder
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 1 0.300 None 1.000 1 2003 2003
Brain dopamine-serotonin vesicular transport disease
disease Nervous System Diseases Disease or Syndrome 1 1 0.010 None 1.000 1 1 2016 2016
CUI: C4747991
Disease: PARKINSONISM-DYSTONIA, INFANTILE, 2
PARKINSONISM-DYSTONIA, INFANTILE, 2
disease Disease or Syndrome 1 1 0.500 None 1.000 1 1 2013 2013
CUI: C0241657
Disease: Abnormality of the vasculature
Abnormality of the vasculature
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases Finding 4 2 0.100 None 0
CUI: C4476759
Disease: Stooped posture
Stooped posture
phenotype Nervous System Diseases Finding 6 0.100 None 0
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder)
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 7 6 0.010 None 1.000 1 2018 2018
CUI: C0860609
Disease: Inappropriate crying
Inappropriate crying
phenotype Finding 8 2 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: 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
CUI: C3272399
Disease: Gastric Neuroendocrine Tumor
Gastric Neuroendocrine Tumor
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 11 0.010 None 1.000 1 2009 2009
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
CUI: C1820737
Disease: Temperature instability
Temperature instability
phenotype Finding 12 8 0.100 None 0
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 17 9 0.010 None 1.000 1 2000 2000
CUI: C0809983
Disease: Schizophrenia and related disorders
Schizophrenia and related disorders
group Mental Disorders Disease or Syndrome 20 5 0.010 None 1.000 1 1995 1995
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: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia
disease Nervous System Diseases Disease or Syndrome 28 33 0.020 None 1.000 2 1999 2003
CUI: C0242423
Disease: Ramsay Hunt Paralysis Syndrome
Ramsay Hunt Paralysis Syndrome
disease Nervous System Diseases Disease or Syndrome 28 0.300 None 1.000 1 2006 2006
Autosomal Dominant Juvenile Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 28 0.300 None 1.000 1 2006 2006
CUI: C0752101
Disease: Parkinsonism, Experimental
Parkinsonism, Experimental
disease Nervous System Diseases Experimental Model of Disease 28 0.300 None 1.000 1 2006 2006
CUI: C0752104
Disease: Familial Juvenile Parkinsonism
Familial Juvenile Parkinsonism
disease Nervous System Diseases Disease or Syndrome 28 0.300 None 1.000 1 2006 2006
CUI: C0231688
Disease: Gait, Shuffling
Gait, Shuffling
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 28 2 0.100 None 0
CUI: C0038450
Disease: Stridor
Stridor
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 31 7 0.100 None 0
CUI: C0813217
Disease: Expressionless face
Expressionless face
phenotype Nervous System Diseases Finding 31 1 0.100 None 0
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism
disease Nervous System Diseases Disease or Syndrome 33 1 0.300 None 1.000 1 2006 2006
CUI: C0235032
Disease: Neurotoxicity Syndromes
Neurotoxicity Syndromes
group Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 34 0.200 None 1.000 1 2010 2010