SLC12A1, solute carrier family 12 member 1, 6557

N. diseases: 87; N. variants: 29
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: C1866496
Disease: Renal juxtaglomerular cell hypertrophy/hyperplasia
Renal juxtaglomerular cell hypertrophy/hyperplasia 		phenotype Finding 2 0.100 None 0
CUI: C1866498
Disease: Hyperprostaglandinuria
Hyperprostaglandinuria 		phenotype Finding 2 0.100 None 0
CUI: C3150358
Disease: Increased serum prostaglandin E2
Increased serum prostaglandin E2 		phenotype Finding 2 0.100 None 0
CUI: C1866495
Disease: Bartter syndrome, antenatal type 1
Bartter syndrome, antenatal type 1 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 3 15 0.920 strong 1.000 10 15 1996 2017
CUI: C0348460
Disease: Other hyperaldosteronism
Other hyperaldosteronism 		disease Endocrine System Diseases Disease or Syndrome 4 0.200 None 1.000 2 2000 2010
CUI: C1866500
Disease: Low-to-normal blood pressure
Low-to-normal blood pressure 		phenotype Cardiovascular Diseases Finding 4 0.100 None 0
CUI: C0232831
Disease: Impairment of urinary concentration
Impairment of urinary concentration 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 5 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: C1846348
Disease: Renal potassium wasting
Renal potassium wasting 		phenotype Finding 6 1 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: C0595901
Disease: Serum chloride level decreased (finding)
Serum chloride level decreased (finding) 		phenotype Nutritional and Metabolic Diseases Finding 7 0.100 None 0
CUI: C1846345
Disease: Hyperactive renin-angiotensin system
Hyperactive renin-angiotensin system 		phenotype Finding 8 0.100 None 0
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 0.010 None 1.000 1 2001 2001
CUI: C0085570
Disease: Hypokalemic alkalosis
Hypokalemic alkalosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2011 2011
CUI: C0740898
Disease: Hypokalemic metabolic alkalosis
Hypokalemic metabolic alkalosis 		disease Disease or Syndrome 10 3 0.110 None 1.000 1 2019 2019
CUI: C0240783
Disease: Increased circulating renin level
Increased circulating renin level 		phenotype Finding 10 0.100 None 0
CUI: C1865279
Disease: Fetal polyuria
Fetal polyuria 		phenotype Finding 10 0.100 None 0
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 29 0.020 None 1.000 2 2017 2018
CUI: C0543800
Disease: Idiopathic hypercalciuria
Idiopathic hypercalciuria 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 20 1 0.010 None 1.000 1 1998 1998
CUI: C4552839
Disease: Hypomagnesemia, CTCAE
Hypomagnesemia, CTCAE 		phenotype Finding 21 0.100 None 0
CUI: C4288936
Disease: Hyperkalemic Mineralocorticoid Resistance
Hyperkalemic Mineralocorticoid Resistance 		disease Disease or Syndrome 22 3 0.020 None 1.000 2 2017 2018
CUI: C1846347
Disease: Renal salt wasting
Renal salt wasting 		phenotype Finding 22 0.100 None 0
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		phenotype Organ or Tissue Function 24 72 0.100 None 1.000 1 7 2007 2007
CUI: C0039621
Disease: Tetany
Tetany 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Finding 24 1 0.100 None 0