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: 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
BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS
disease Disease or Syndrome 2 2 0.600 None 1.000 2 2 2004 2008
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.010 None 1.000 1 1 2011 2011
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 1 2011 2011
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
disease Cardiovascular Diseases Disease or Syndrome 445 293 0.010 None 1.000 1 2015 2015
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 60 41 0.010 None 1.000 1 2000 2000
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
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: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
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: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
disease Endocrine System Diseases Disease or Syndrome 84 6 0.100 None 0
CUI: C0085680
Disease: Hypochloremia (disorder)
Hypochloremia (disorder)
disease Nutritional and Metabolic Diseases Disease or Syndrome 7 1 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
Hypokalemic hypochloremic metabolic alkalosis
disease Disease or Syndrome 3 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: 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: C3671887
Disease: Hypernatriuria
Hypernatriuria
disease Disease or Syndrome 17 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: C0013604
Disease: Edema
Edema
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 126 1 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: C0020621
Disease: Hypokalemia
Hypokalemia
phenotype Nutritional and Metabolic Diseases Finding 61 7 0.100 None 0
CUI: C0020625
Disease: Hyponatremia
Hyponatremia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 109 11 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C0032617
Disease: Polyuria
Polyuria
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Sign or Symptom 73 3 0.100 None 0