CLCNKB, chloride voltage-gated channel Kb, 1188

N. diseases: 139; N. variants: 24
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: C1846343
Disease: Bartter syndrome, type 3
Bartter syndrome, type 3 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 9 10 0.800 strong 1.000 21 10 1997 2019
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 47 8 0.400 None 0.973 37 2 1997 2020
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 26 120 0.400 None 1.000 12 3 1999 2019
CUI: C4310805
Disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS
BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS 		disease Disease or Syndrome 2 2 0.300 None 1.000 3 2006 2013
CUI: C2751312
Disease: BARTTER SYNDROME, TYPE 4B
BARTTER SYNDROME, TYPE 4B 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 0.300 None 0
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 60 41 0.210 None 1.000 2 1999 2000
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.130 None 1.000 3 2003 2008
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 281 50 0.110 None 1.000 1 2019 2019
CUI: C0040264
Disease: Tinnitus
Tinnitus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 103 14 0.110 None 1.000 1 1 2006 2006
CUI: C0151723
Disease: Hypomagnesemia
Hypomagnesemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 58 11 0.110 None 1.000 1 2010 2010
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome 		disease Endocrine System Diseases Disease or Syndrome 82 25 0.110 None 1.000 1 2009 2009
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 52 3 0.110 None 1.000 1 2007 2007
CUI: C0553730
Disease: Calcium pyrophosphate deposition disease
Calcium pyrophosphate deposition disease 		disease Musculoskeletal Diseases Disease or Syndrome 34 5 0.100 None 0
CUI: C0595901
Disease: Serum chloride level decreased (finding)
Serum chloride level decreased (finding) 		phenotype Nutritional and Metabolic Diseases Finding 7 0.100 None 0
CUI: C0600125
Disease: Prolonged PR interval
Prolonged PR interval 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 5 0.100 None 0
CUI: C0522224
Disease: Paralysed
Paralysed 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 68 0.100 None 0
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		disease Endocrine System Diseases Disease or Syndrome 335 131 0.100 None 0
CUI: C0740896
Disease: Hypokalemic hypochloremic metabolic alkalosis
Hypokalemic hypochloremic metabolic alkalosis 		disease Disease or Syndrome 3 0.100 None 0
CUI: C0740898
Disease: Hypokalemic metabolic alkalosis
Hypokalemic metabolic alkalosis 		disease Disease or Syndrome 10 3 0.100 None 0 1
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 126 4 0.100 None 0
CUI: C0853068
Disease: Decreased glomerular filtration rate
Decreased glomerular filtration rate 		phenotype Finding 11 0.100 None 0
CUI: C0917801
Disease: Sleeplessness
Sleeplessness 		phenotype Nervous System Diseases; Mental Disorders Sign or Symptom 174 30 0.100 None 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 393 2 0.100 None 0
CUI: C0520887
Disease: ST segment depression (finding)
ST segment depression (finding) 		phenotype Cardiovascular Diseases Finding 3 0.100 None 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 0.100 None 0