SLC12A3, solute carrier family 12 member 3, 6559

N. diseases: 252; N. variants: 131
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.
Hyperkalemic Mineralocorticoid Resistance
disease Disease or Syndrome 22 3 0.100 None 0.917 12 2001 2018
CUI: C0740898
Disease: Hypokalemic metabolic alkalosis
Hypokalemic metabolic alkalosis
disease Disease or Syndrome 10 3 0.030 None 1.000 3 1 2002 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2019 2019
CUI: C0221505
Disease: Lesion of brain
Lesion of brain
group Disease or Syndrome 188 9 0.010 None 1.000 1 1999 1999
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2019 2019
CUI: C1971021
Disease: Potassium depletion
Potassium depletion
disease Disease or Syndrome 6 0.010 None 1.000 1 2016 2016
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.010 None 1.000 1 2019 2019
CUI: C4479709
Disease: FCD IIB
FCD IIB
disease Disease or Syndrome 15 2 0.010 None 1.000 1 2004 2004
CUI: C4696948
Disease: Trauma symptoms
Trauma symptoms
phenotype Sign or Symptom 8 0.010 None 1.000 1 2020 2020
CUI: C0240783
Disease: Increased circulating renin level
Increased circulating renin level
phenotype Finding 10 0.100 None 0
CUI: C1522135
Disease: Hypermagnesemia result
Hypermagnesemia result
phenotype Finding 7 1 0.100 None 0 1
CUI: C1557375
Disease: Blurred Vision, CTCAE
Blurred Vision, CTCAE
phenotype Finding 26 0.100 None 0
CUI: C1839341
Disease: Abnormal T-wave
Abnormal T-wave
phenotype Finding 20 0.100 None 0
CUI: C1846348
Disease: Renal potassium wasting
Renal potassium wasting
phenotype Finding 6 1 0.100 None 0 1
CUI: C1969408
Disease: Prominent U wave
Prominent U wave
phenotype Finding 3 0.100 None 0
CUI: C3160712
Disease: Palpitations, CTCAE
Palpitations, CTCAE
phenotype Finding 64 0.100 None 0
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers
phenotype Sign or Symptom 48 4 0.100 None 0
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment
phenotype Diagnostic Procedure 84 0.300 strong 0
CUI: C4551761
Disease: Excessive daytime sleepiness
Excessive daytime sleepiness
phenotype Sign or Symptom 46 5 0.100 None 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE
phenotype Finding 117 0.100 None 0
CUI: C4552839
Disease: Hypomagnesemia, CTCAE
Hypomagnesemia, CTCAE
phenotype Finding 21 0.100 None 0
CUI: C4554647
Disease: Hypermagnesemia, CTCAE
Hypermagnesemia, CTCAE
phenotype Finding 7 0.100 None 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.400 None 1.000 36 7 2001 2019
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
disease Cardiovascular Diseases Disease or Syndrome 445 293 0.100 None 0.900 10 6 2004 2015
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2007 2007