SLC12A3, solute carrier family 12 member 3, 6559

N. diseases: 170; N. variants: 31
Source: BEFREE ×
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: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2013 2013
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1091 73 0.020 None 1.000 2 2013 2014
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		disease Male Urogenital Diseases Congenital Abnormality 27 28 0.010 None 1.000 1 2018 2018
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 24 24 0.900 strong 1.000 95 17 1996 2020
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 1973 871 0.400 None 1.000 33 7 2001 2019
CUI: C4288936
Disease: Hyperkalemic Mineralocorticoid Resistance
Hyperkalemic Mineralocorticoid Resistance 		disease Disease or Syndrome 22 3 0.100 None 0.917 12 2001 2018
CUI: C0020599
Disease: Hypocalciuria
Hypocalciuria 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 12 2 0.200 None 1.000 10 1996 2018
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		disease Cardiovascular Diseases Disease or Syndrome 442 291 0.100 None 0.900 10 6 2004 2015
CUI: C0151723
Disease: Hypomagnesemia
Hypomagnesemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 48 8 0.200 None 1.000 10 1998 2018
CUI: C1449844
Disease: Pseudohypoaldosteronism, Type II
Pseudohypoaldosteronism, Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 21 3 0.100 None 0.900 10 2001 2017
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1109 208 0.090 None 1.000 9 2 2003 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2694 1598 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 45 8 0.170 None 1.000 7 2001 2012
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1124 250 0.060 None 1.000 6 2010 2019
CUI: C3469605
Disease: PSEUDOHYPOALDOSTERONISM, TYPE IID
PSEUDOHYPOALDOSTERONISM, TYPE IID 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 13 0.050 None 1.000 5 2014 2018
CUI: C0020488
Disease: Hypernatremia
Hypernatremia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 55 2 0.030 None 1.000 3 2015 2017
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1060 131 0.330 None 1.000 3 1 1998 2016
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 659 191 0.030 None 1.000 3 1 2006 2019
CUI: C0151747
Disease: Renal tubular disorder
Renal tubular disorder 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 33 1 0.030 None 1.000 3 2005 2018
CUI: C0220983
Disease: Metabolic alkalosis
Metabolic alkalosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 17 3 0.130 None 1.000 3 2002 2019
CUI: C0740898
Disease: Hypokalemic metabolic alkalosis
Hypokalemic metabolic alkalosis 		disease Disease or Syndrome 4 3 0.030 None 1.000 3 1 2002 2016
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 594 188 0.030 None 1.000 3 1 2006 2019
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 895 168 0.020 None 1.000 2 1998 2005
CUI: C0085570
Disease: Hypokalemic alkalosis
Hypokalemic alkalosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 8 0.120 None 1.000 2 2001 2011
CUI: C0220666
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 12 0.020 None 1.000 2 2011 2014