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
Hyperaldosteronism, Familial, Type II
disease Endocrine System Diseases Disease or Syndrome 8 9 0.610 None 1.000 3 6 2018 2019
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
disease Finding 1 3 0.600 None 1.000 3 3 2009 2013
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome
disease Endocrine System Diseases Disease or Syndrome 82 25 0.440 None 1.000 4 6 2018 2019
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: 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
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: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
disease Endocrine System Diseases Disease or Syndrome 84 6 0.320 None 1.000 3 2018 2019
CUI: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 3097 353 0.310 None 1.000 1 2003 2003
CUI: C0259783
Disease: mixed gliomas
mixed gliomas
disease Neoplasms Neoplastic Process 76 0.300 None 1.000 1 2003 2003
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
disease Neoplasms Neoplastic Process 724 22 0.300 None 1.000 1 2003 2003
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 190 27 0.250 None 1.000 5 2014 2019
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: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
group Nervous System Diseases Disease or Syndrome 189 17 0.150 None 1.000 5 2013 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.110 None 1.000 1 5 2019 2019
CUI: C0021704
Disease: Intelligence
Intelligence
phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 1 1 2018 2018
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
Glucocortocoid-insensitive primary hyperaldosteronism
disease Endocrine System Diseases Disease or Syndrome 3 5 0.100 None 0 5
Generalized tonic-clonic seizures on awakening
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 3 0.100 None 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
phenotype Finding 45 6 0.100 None 0
CUI: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes
phenotype Finding 30 0.100 None 0
Photosensitive tonic-clonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 14 1 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: 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: C4021038
Disease: Abnormal circulating renin
Abnormal circulating renin
disease Finding 5 1 0.100 None 0 1