SLC5A7, solute carrier family 5 member 7, 60482

N. diseases: 127; N. variants: 12
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.
Neuropathy, Distal Hereditary Motor, Type VIIA
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 1 0.610 None 1.000 3 1 2012 2018
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
disease Disease or Syndrome 1 7 0.600 None 1.000 2 7 2016 2016
CUI: C0393929
Disease: Familial infantile myasthenia
Familial infantile myasthenia
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Respiratory Tract Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome 2 16 0.300 moderate 1.000 1 2016 2016
Distal hereditary motor neuropathy type 7
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 0.300 None 1.000 1 2012 2012
Partial Paralysis (Paresis) Vocal Cords
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 10 0.100 None 0
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
EMG: impaired neuromuscular transmission
phenotype Finding 11 0.100 None 0
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
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
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
Congenital Myasthenic Syndromes, Postsynaptic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 18 0.300 None 0
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: C0221480
Disease: Recurrent depression
Recurrent depression
disease Mental Disorders Mental or Behavioral Dysfunction 19 12 0.310 None 1.000 1 1 2008 2008
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: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy
phenotype Cell or Molecular Dysfunction 25 2 0.100 None 0
CUI: C3203358
Disease: Hypoventilation
Hypoventilation
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Pathologic Function 28 2 0.100 None 0
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