CLCN2, chloride voltage-gated channel 2, 1181

N. diseases: 67; N. variants: 30
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: C3810242
Disease: LEUKOENCEPHALOPATHY WITH ATAXIA
LEUKOENCEPHALOPATHY WITH ATAXIA 		disease Disease or Syndrome 1 17 0.700 None 1.000 9 17 2003 2015
CUI: C2750893
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 		disease Finding 1 3 0.600 None 1.000 3 3 2009 2013
CUI: C4554120
Disease: Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Leukoencephalopathy with mild cerebellar ataxia and white matter edema 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.320 strong 1.000 3 2015 2019
CUI: C1847165
Disease: Generalized tonic-clonic seizures on awakening
Generalized tonic-clonic seizures on awakening 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 3 0.100 None 0
CUI: C4023208
Disease: Glucocortocoid-insensitive primary hyperaldosteronism
Glucocortocoid-insensitive primary hyperaldosteronism 		disease Endocrine System Diseases Disease or Syndrome 3 5 0.100 None 0 5
CUI: C0267509
Disease: Chronic idiopathic constipation
Chronic idiopathic constipation 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C4021038
Disease: Abnormal circulating renin
Abnormal circulating renin 		disease Finding 5 1 0.100 None 0 1
CUI: C1854107
Disease: Hyperaldosteronism, Familial, Type II
Hyperaldosteronism, Familial, Type II 		disease Endocrine System Diseases Disease or Syndrome 8 9 0.610 None 1.000 3 6 2018 2019
CUI: C3160897
Disease: Opioid-Induced Constipation
Opioid-Induced Constipation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 8 0.010 None 1.000 1 2017 2017
CUI: C3494976
Disease: Migrating partial seizures in infancy
Migrating partial seizures in infancy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2006 2006
CUI: C4268639
Disease: Irritable bowel syndrome with constipation
Irritable bowel syndrome with constipation 		disease Digestive System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2017 2017
CUI: C1847164
Disease: Morning myoclonic jerks
Morning myoclonic jerks 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 11 0.100 None 0
CUI: C1846131
Disease: Photosensitive tonic-clonic seizures
Photosensitive tonic-clonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 14 1 0.100 None 0
CUI: C3713420
Disease: Familial Hyperaldosteronism
Familial Hyperaldosteronism 		disease Endocrine System Diseases Disease or Syndrome 15 0.040 None 1.000 4 2018 2019
CUI: C0391958
Disease: Familial Epilepsies
Familial Epilepsies 		disease Nervous System Diseases Disease or Syndrome 16 2 0.010 None 1.000 1 2004 2004
CUI: C0393702
Disease: Myoclonic Astatic Epilepsy
Myoclonic Astatic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2009 2009
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Nervous System Diseases Congenital Abnormality 24 46 0.050 None 0.800 5 2010 2018
CUI: C0026633
Disease: Mouth Abnormalities
Mouth Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 26 0.100 None 0
CUI: C0220983
Disease: Metabolic alkalosis
Metabolic alkalosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 27 5 0.100 None 0 1
CUI: C0391957
Disease: idiopathic epilepsy
idiopathic epilepsy 		disease Disease or Syndrome 30 3 0.010 None 1.000 1 2004 2004
CUI: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes 		phenotype Finding 30 0.100 None 0
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 33 13 0.020 None 1.000 2 2007 2019
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		phenotype Finding 45 6 0.100 None 0
CUI: C0020621
Disease: Hypokalemia
Hypokalemia 		phenotype Nutritional and Metabolic Diseases Finding 61 7 0.100 None 0 3
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 74 46 0.330 None 1.000 6 2003 2013