SLC18A3, solute carrier family 18 member A3, 6572

N. diseases: 117; N. variants: 3
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: C4310654
Disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC 		disease Disease or Syndrome 2 2 0.600 None 1.000 2 2 2016 2019
CUI: C1859438
Disease: Frontalis muscle weakness
Frontalis muscle weakness 		phenotype Infections; Nervous System Diseases; Stomatognathic Diseases Finding 10 0.100 None 0
CUI: C4021066
Disease: Narrow jaw
Narrow jaw 		phenotype Finding 11 0.100 None 0
CUI: C4022168
Disease: EMG: impaired neuromuscular transmission
EMG: impaired neuromuscular transmission 		phenotype Finding 11 0.100 None 0
CUI: C0549225
Disease: Myasthenic Syndrome
Myasthenic Syndrome 		disease Disease or Syndrome 12 0.010 None 1.000 1 2017 2017
CUI: C0162297
Disease: Respiratory arrest
Respiratory arrest 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 12 2 0.100 None 0
CUI: C3806462
Disease: Apneic episodes precipitated by illness, fatigue, stress
Apneic episodes precipitated by illness, fatigue, stress 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 12 0.100 None 0
CUI: C4280747
Disease: Choking episodes
Choking episodes 		phenotype Pathologic Function 12 1 0.100 None 0
CUI: C0232608
Disease: Nasal regurgitation
Nasal regurgitation 		phenotype Sign or Symptom 14 0.100 None 0
CUI: C3807025
Disease: Intermittent episodes of respiratory insufficiency due to muscle weakness
Intermittent episodes of respiratory insufficiency due to muscle weakness 		phenotype Finding 14 0.100 None 0
CUI: C4025671
Disease: Sudden episodic apnea
Sudden episodic apnea 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 14 0.100 None 0
CUI: C3809827
Disease: Staring gaze
Staring gaze 		phenotype Finding 16 1 0.100 None 0
CUI: C0751883
Disease: Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Postsynaptic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 18 0.300 None 0
CUI: C0751885
Disease: Myasthenic Syndromes, Congenital, Slow Channel
Myasthenic Syndromes, Congenital, Slow Channel 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 18 1 0.300 None 0
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 0.500 None 1.000 1 2016 2016
CUI: C1844945
Disease: Episodic respiratory distress
Episodic respiratory distress 		phenotype Finding 21 0.100 None 0
CUI: C0005686
Disease: Urinary Bladder Diseases
Urinary Bladder Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 24 0.200 None 1.000 1 2007 2007
CUI: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy 		phenotype Cell or Molecular Dysfunction 25 2 0.100 None 0
CUI: C1568363
Disease: Tendinosis
Tendinosis 		disease Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome 28 0.010 None 1.000 1 2008 2008
CUI: C0751362
Disease: Narcolepsy-Cataplexy Syndrome
Narcolepsy-Cataplexy Syndrome 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 30 7 0.010 None 1.000 1 2010 2010
CUI: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes 		phenotype Finding 30 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: C0271683
Disease: Polyneuropathy, Motor
Polyneuropathy, Motor 		disease Nervous System Diseases Disease or Syndrome 32 3 0.100 None 0
CUI: C0022972
Disease: Lambert-Eaton Myasthenic Syndrome
Lambert-Eaton Myasthenic Syndrome 		disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 37 1 0.010 None 1.000 1 2017 2017
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 40 21 0.310 None 1.000 1 2019 2019