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: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 57 40 0.530 strong 1.000 4 1 2016 2019
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: C0086132
Disease: Depressive Symptoms
Depressive Symptoms
phenotype Behavior and Behavior Mechanisms Sign or Symptom 421 120 0.310 None 1.000 1 2006 2006
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
group Mental Disorders Mental or Behavioral Dysfunction 580 308 0.310 None 1.000 1 2013 2013
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
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
disease Mental Disorders Mental or Behavioral Dysfunction 641 225 0.300 None 1.000 1 2008 2008
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.300 None 1.000 1 2008 2008
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
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
Congenital Myasthenic Syndromes, Postsynaptic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 18 0.300 None 0
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.200 None 1.000 1 2007 2007
CUI: C0018129
Disease: Graft Rejection
Graft Rejection
phenotype Organ or Tissue Function 47 0.200 None 1.000 1 2009 2009
CUI: C0003578
Disease: Apnea
Apnea
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 262 11 0.110 None 1.000 1 2016 2016
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.110 None 1.000 1 2016 2016
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: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive
disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 480 105 0.100 None 0
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central
disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 122 17 0.100 None 0
CUI: C1837142
Disease: Poor suck
Poor suck
phenotype Finding 103 31 0.100 None 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability
phenotype Finding 74 5 0.100 None 0
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness
phenotype Finding 49 11 0.100 None 0
CUI: C1836047
Disease: Long face
Long face
phenotype Finding 182 12 0.100 None 0
CUI: C1836038
Disease: Poor head control
Poor head control
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 162 13 0.100 None 0