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: C0001807
Disease: Aggressive behavior
Aggressive behavior 		phenotype Behavior and Behavior Mechanisms Individual Behavior 176 22 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: C0220983
Disease: Metabolic alkalosis
Metabolic alkalosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 27 5 0.100 None 0 1
CUI: C0018681
Disease: Headache
Headache 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 338 75 0.100 None 0
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: C0020621
Disease: Hypokalemia
Hypokalemia 		phenotype Nutritional and Metabolic Diseases Finding 61 7 0.100 None 0 3
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
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: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0
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: C4316903
Disease: Absence Seizures
Absence Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 205 8 0.100 None 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		phenotype Finding 45 6 0.100 None 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 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: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes 		phenotype Finding 30 0.100 None 0
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 192 65 0.100 None 0
CUI: C4021038
Disease: Abnormal circulating renin
Abnormal circulating renin 		disease Finding 5 1 0.100 None 0 1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 0.230 None 1.000 4 1996 2004
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.010 None 1.000 1 1999 1999
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: 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
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		disease Nervous System Diseases Disease or Syndrome 94 24 0.350 None 1.000 5 2003 2013
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		disease Nervous System Diseases Disease or Syndrome 93 36 0.050 None 1.000 5 2003 2006
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		disease Neoplasms Neoplastic Process 724 22 0.300 None 1.000 1 2003 2003