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.
APPARENT MINERALOCORTICOID EXCESS, MILD
phenotype Finding 1 2 0.100 None 0 2
CUI: C4022825
Disease: Abnormal urine sodium concentration
Abnormal urine sodium concentration
phenotype Finding 1 0.100 None 0
Abnormality of circulating cortisol level
phenotype Finding 1 0.100 None 0
CUI: C0376185
Disease: Hypoaldosteronism, Hyporeninemic
Hypoaldosteronism, Hyporeninemic
disease Endocrine System Diseases Disease or Syndrome 3 0.020 None 1.000 2 1998 2017
CUI: C4543692
Disease: Anxiety in pregnancy
Anxiety in pregnancy
disease Mental or Behavioral Dysfunction 3 0.010 None 1.000 1 2015 2015
End stage renal disease due to hypertension
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 5 2 0.010 None 1.000 1 1996 1996
Mineralocorticoid Excess Syndrome, Apparent
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 1 0.550 None 1.000 7 1 1996 2019
CUI: C0476237
Disease: Metabolic symptoms
Metabolic symptoms
phenotype Sign or Symptom 9 0.010 None 1.000 1 2017 2017
CUI: C1845206
Disease: Decreased circulating renin level
Decreased circulating renin level
phenotype Finding 9 1 0.100 None 0
CUI: C0085570
Disease: Hypokalemic alkalosis
Hypokalemic alkalosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 10 1 0.010 None < 0.001 1 1999 1999
CUI: C0740898
Disease: Hypokalemic metabolic alkalosis
Hypokalemic metabolic alkalosis
disease Disease or Syndrome 10 3 0.100 None 0
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic
disease Neoplasms Disease or Syndrome 11 0.010 None 1.000 1 2004 2004
CUI: C0032962
Disease: Pregnancy Complications
Pregnancy Complications
group Female Urogenital Diseases and Pregnancy Complications Pathologic Function 13 0.300 None 1.000 1 2002 2002
CUI: C1112472
Disease: Aeromonas hydrophila infection
Aeromonas hydrophila infection
disease Disease or Syndrome 16 0.010 None 1.000 1 2019 2019
Decreased circulating aldosterone level
phenotype Immune System Diseases; Endocrine System Diseases Finding 16 0.100 None 0
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 19 6 0.010 None 1.000 1 2014 2014
CUI: C0241880
Disease: Endometriosis of pelvis
Endometriosis of pelvis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 20 0.010 None 1.000 1 2007 2007
CUI: C3887949
Disease: Apparent mineralocorticoid excess
Apparent mineralocorticoid excess
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 23 15 0.800 strong 0.981 52 15 1995 2019
CUI: C0152132
Disease: Hypertensive Retinopathy
Hypertensive Retinopathy
disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 24 2 0.100 None 0
CUI: C0220983
Disease: Metabolic alkalosis
Metabolic alkalosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 27 5 0.100 None 0
CUI: C1395512
Disease: Placental dysfunction
Placental dysfunction
disease Disease or Syndrome 31 0.010 None 1.000 1 2017 2017
CUI: C0598428
Disease: genetic hypertension
genetic hypertension
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 34 2 0.020 None 1.000 2 1999 2000
CUI: C0085593
Disease: Chills
Chills
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 34 0.010 None 1.000 1 2012 2012
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 40 71 0.010 None 1.000 1 2013 2013
CUI: C0015930
Disease: Fetal Distress
Fetal Distress
disease Pathological Conditions, Signs and Symptoms Pathologic Function 44 1 0.010 None 1.000 1 2003 2003