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.
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 0.900 strong 1.000 107 113 1996 2020
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: 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 0.400 strong 1.000 1 2016 2016
CUI: C0041349
Disease: Nephritis, Tubulointerstitial
Nephritis, Tubulointerstitial
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 92 6 0.400 strong 0
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.330 None 1.000 4 1 1998 2016
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
group Cardiovascular Diseases Disease or Syndrome 688 40 0.300 None 1.000 1 2013 2013
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment
phenotype Diagnostic Procedure 84 0.300 strong 0
CUI: C0027707
Disease: Nephritis, Interstitial
Nephritis, Interstitial
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 79 5 0.300 strong 0
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease
group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 221 7 0.300 strong 0
CUI: C0020599
Disease: Hypocalciuria
Hypocalciuria
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 16 4 0.200 None 1.000 10 1 1996 2018
CUI: C0151723
Disease: Hypomagnesemia
Hypomagnesemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 58 11 0.200 None 1.000 10 1 1998 2018
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.200 None 1.000 1 2005 2005
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.180 None 1.000 8 2 2005 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 0.170 None 1.000 7 2001 2012
CUI: C0220983
Disease: Metabolic alkalosis
Metabolic alkalosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 27 5 0.130 None 1.000 3 2002 2019
CUI: C0085570
Disease: Hypokalemic alkalosis
Hypokalemic alkalosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 10 1 0.120 None 1.000 2 1 2001 2011
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: C0011991
Disease: Diarrhea
Diarrhea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.110 None < 0.001 1 2015 2015
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 94 13 0.110 None 1.000 1 2018 2018
CUI: C0018213
Disease: Graves Disease
Graves Disease
disease Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 585 352 0.110 None 1.000 1 2018 2018
CUI: C0018681
Disease: Headache
Headache
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 338 75 0.110 None 1.000 1 2017 2017
CUI: C0522224
Disease: Paralysed
Paralysed
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 68 0.110 None 1.000 1 2003 2003
Calcium pyrophosphate deposition disease
disease Musculoskeletal Diseases Disease or Syndrome 34 5 0.110 None 1.000 1 1 2019 2019
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 289 55 0.100 None 0.970 33 1990 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.963 27 1994 2019