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: 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: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
group Nervous System Diseases Disease or Syndrome 189 17 0.150 None 1.000 5 2013 2017
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: 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: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized
disease Nervous System Diseases Disease or Syndrome 93 36 0.050 None 1.000 5 2003 2006
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.050 None 1.000 5 2004 2019
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: 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: C3713420
Disease: Familial Hyperaldosteronism
Familial Hyperaldosteronism
disease Endocrine System Diseases Disease or Syndrome 15 0.040 None 1.000 4 2018 2019
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: 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: C0009319
Disease: Colitis
Colitis
disease Digestive System Diseases Disease or Syndrome 1135 15 0.020 None 1.000 2 2013 2018
CUI: C0009777
Disease: Conn Adenoma
Conn Adenoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 107 5 0.020 None 1.000 2 2019 2019
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease Nervous System Diseases Disease or Syndrome 89 17 0.020 None 1.000 2 2007 2019
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: 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
Irritable bowel syndrome with constipation
disease Digestive System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2017 2017
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
disease Eye Diseases Disease or Syndrome 383 222 0.010 None 1.000 1 2013 2013
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.010 None 1.000 1 2015 2015
CUI: C0391957
Disease: idiopathic epilepsy
idiopathic epilepsy
disease Disease or Syndrome 30 3 0.010 None 1.000 1 2004 2004
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: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
disease Digestive System Diseases Disease or Syndrome 1058 222 0.010 None 1.000 1 2018 2018
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 434 17 0.010 None 1.000 1 2018 2018