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: C4021038
Disease: Abnormal circulating renin
Abnormal circulating renin
disease Finding 5 1 0.100 None 0 1
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility
phenotype Finding 45 6 0.100 None 0
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease Nervous System Diseases Disease or Syndrome 89 17 0.020 None 1.000 2 2007 2019
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: C0001807
Disease: Aggressive behavior
Aggressive behavior
phenotype Behavior and Behavior Mechanisms Individual Behavior 176 22 0.100 None 0
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2019 2019
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2019 2019
CUI: C1720983
Disease: Channelopathies
Channelopathies
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8 0.010 None 1.000 1 2013 2013
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: 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: 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: 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: C0009806
Disease: Constipation
Constipation
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 424 57 0.010 None 1.000 1 2011 2011
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
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.010 None 1.000 1 2019 2019
CUI: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes
phenotype Finding 30 0.100 None 0
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.050 None 1.000 5 2004 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
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
disease Finding 1 3 0.600 None 1.000 3 3 2009 2013
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: C3713420
Disease: Familial Hyperaldosteronism
Familial Hyperaldosteronism
disease Endocrine System Diseases Disease or Syndrome 15 0.040 None 1.000 4 2018 2019
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: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 0.100 None 0