CLCNKA, chloride voltage-gated channel Ka, 1187

N. diseases: 37; N. variants: 6
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: C4310805
Disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS
BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS 		disease Disease or Syndrome 2 2 0.600 None 1.000 2 2 2004 2008
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.330 None 1.000 4 1 2007 2017
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: C0004775
Disease: Bartter Disease
Bartter Disease 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 47 8 0.240 None 1.000 4 2000 2017
CUI: C0348460
Disease: Other hyperaldosteronism
Other hyperaldosteronism 		disease Endocrine System Diseases Disease or Syndrome 4 0.200 None 1.000 1 2016 2016
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 0.200 None 1.000 1 2016 2016
CUI: C1846344
Disease: Bartter Syndrome, Type 3, with Hypocalciuria
Bartter Syndrome, Type 3, with Hypocalciuria 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 2 2 0.200 None 1.000 1 2016 2016
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 0.100 None 0
CUI: C0740896
Disease: Hypokalemic hypochloremic metabolic alkalosis
Hypokalemic hypochloremic metabolic alkalosis 		disease Disease or Syndrome 3 0.100 None 0
CUI: C0853068
Disease: Decreased glomerular filtration rate
Decreased glomerular filtration rate 		phenotype Finding 11 0.100 None 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.100 None 0
CUI: C1846347
Disease: Renal salt wasting
Renal salt wasting 		phenotype Finding 22 0.100 None 0
CUI: C1846351
Disease: Increased urinary potassium
Increased urinary potassium 		phenotype Finding 5 0.100 None 0
CUI: C1846352
Disease: Hyperchloriduria
Hyperchloriduria 		phenotype Finding 5 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1865279
Disease: Fetal polyuria
Fetal polyuria 		phenotype Finding 10 0.100 None 0
CUI: C0011053
Disease: Deafness
Deafness 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 62 37 0.100 None 0 1
CUI: C3671887
Disease: Hypernatriuria
Hypernatriuria 		disease Disease or Syndrome 17 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 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: 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: C0020224
Disease: Polyhydramnios
Polyhydramnios 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 208 28 0.100 None 0
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism 		disease Endocrine System Diseases Disease or Syndrome 84 6 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0