SLC12A5, solute carrier family 12 member 5, 57468

N. diseases: 135; N. variants: 20
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: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 105 8 0.100 None 0
CUI: C0037036
Disease: Sialorrhea
Sialorrhea
disease Stomatognathic Diseases Disease or Syndrome 32 1 0.100 None 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.100 None 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly
phenotype Finding 62 0.100 None 0
CUI: C1846620
Disease: Hemiclonic seizures
Hemiclonic seizures
phenotype Nervous System Diseases Finding 5 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
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: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
Generalized tonic-clonic seizures with focal onset
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 23 1 0.100 None 0
CUI: C0013132
Disease: Drooling
Drooling
phenotype Stomatognathic Diseases Finding 95 14 0.100 None 0
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination
disease Anatomical Abnormality 21 4 0.100 None 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.400 None 1.000 1 2010 2010
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 205 8 0.400 None 1.000 1 2010 2010
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
group Mental Disorders Mental or Behavioral Dysfunction 580 308 0.310 None 1.000 1 2012 2012
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 192 65 0.310 None 1.000 1 1 2014 2014
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy
disease Nervous System Diseases Disease or Syndrome 94 24 0.310 None 1.000 1 2 2014 2014
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 108 0.300 None 1.000 1 2010 2010
CUI: C0751056
Disease: Non-epileptic convulsion
Non-epileptic convulsion
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 102 0.300 None 1.000 1 2010 2010
CUI: C0393734
Disease: Complex Partial Status Epilepticus
Complex Partial Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 68 0.300 None 1.000 1 2010 2010
CUI: C0422850
Disease: Seizures, Somatosensory
Seizures, Somatosensory
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 102 0.300 None 1.000 1 2010 2010
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 140 5 0.300 None 1.000 1 2010 2010
CUI: C0751123
Disease: Atonic Absence Seizures
Atonic Absence Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 1 2010 2010
CUI: C0751211
Disease: Hyperalgesia, Primary
Hyperalgesia, Primary
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 84 0.300 None 1.000 1 2010 2010
CUI: C0751212
Disease: Hyperalgesia, Secondary
Hyperalgesia, Secondary
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 88 0.300 None 1.000 1 2010 2010
CUI: C0751213
Disease: Tactile Allodynia
Tactile Allodynia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 114 0.300 None 1.000 1 2010 2010