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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
disease Disease or Syndrome 1 14 0.700 strong 1.000 2 14 2015 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.600 None 1.000 23 2002 2019
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
phenotype Finding 1 2 0.600 strong 1.000 4 2 2014 2016
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.430 None 1.000 3 2010 2019
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.400 None 1.000 11 2007 2020
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: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.370 None 0.667 7 2011 2019
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 451 4 0.330 None 1.000 4 2010 2018
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe
disease Nervous System Diseases Disease or Syndrome 354 33 0.330 None 1.000 4 2006 2019
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 250 7 0.320 None 1.000 3 2006 2017
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 408 4 0.320 None 1.000 3 2010 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.320 None 1.000 2 2016 2019
CUI: C0234533
Disease: Generalized seizures
Generalized seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 13 0.310 None 1.000 2 2010 2018
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 15 0.310 None 1.000 2 2010 2016
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: 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: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 83 0.300 None 1.000 2 2002 2008
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 83 0.300 None 1.000 2 2002 2008
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 88 4 0.300 None 1.000 2 2002 2008
CUI: C0311335
Disease: Grand Mal Status Epilepticus
Grand Mal Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 75 0.300 None 1.000 1 2010 2010
CUI: C0751524
Disease: Simple Partial Status Epilepticus
Simple Partial Status Epilepticus
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 68 0.300 None 1.000 1 2010 2010
Epilepsy, Benign Psychomotor, Childhood
disease Nervous System Diseases Disease or Syndrome 23 0.300 None 1.000 1 2009 2009
CUI: C0270824
Disease: Visual seizure
Visual seizure
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 209 0.300 None 1.000 1 2010 2010