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: C0392164
Disease: Pulmonary Cystic Fibrosis
Pulmonary Cystic Fibrosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 53 0.300 None 1.000 1 2006 2006
CUI: C0400822
Disease: Colitis, Lymphocytic
Colitis, Lymphocytic
disease Digestive System Diseases Disease or Syndrome 25 0.010 None 1.000 1 2016 2016
Pseudohypoaldosteronism, Type I, Autosomal Dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 13 20 0.300 None 1.000 1 1996 1996
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 27 42 0.300 None 1.000 1 1996 1996
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 9 0.300 None 1.000 1 2006 2006
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2007 2007
Hyperpotassemia and Hypertension, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 10 0.300 None 1.000 1 1996 1996
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3
disease Respiratory Tract Diseases Disease or Syndrome 2 0.500 strong 1.000 1 2015 2015
CUI: C3671887
Disease: Hypernatriuria
Hypernatriuria
disease Disease or Syndrome 17 0.010 None 1.000 1 2018 2018
CUI: C4021821
Disease: Abnormality of the urinary system
Abnormality of the urinary system
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 50 0.010 None 1.000 1 2017 2017
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.100 None 0
CUI: C0008677
Disease: Bronchitis, Chronic
Bronchitis, Chronic
disease Infections; Respiratory Tract Diseases Disease or Syndrome 118 9 0.100 None 0
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
disease Endocrine System Diseases Disease or Syndrome 84 6 0.100 None 0
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 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: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.100 None 0
Recurrent lower respiratory tract infection
phenotype Disease or Syndrome 23 0.100 None 0
CUI: C4023112
Disease: Acute infectious pneumonia
Acute infectious pneumonia
disease Disease or Syndrome 7 0.100 None 0
CUI: C4748251
Disease: LIDDLE SYNDROME 2
LIDDLE SYNDROME 2
disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C0020649
Disease: Hypotension
Hypotension
phenotype Cardiovascular Diseases Finding 125 2 0.400 None 1.000 1 2001 2001
CUI: C0020461
Disease: Hyperkalemia
Hyperkalemia
phenotype Nutritional and Metabolic Diseases Finding 32 1 0.100 None 0
CUI: C0020621
Disease: Hypokalemia
Hypokalemia
phenotype Nutritional and Metabolic Diseases Finding 61 7 0.100 None 0
CUI: C0034642
Disease: Rales
Rales
phenotype Pathological Conditions, Signs and Symptoms Finding 23 0.100 None 0
CUI: C0239134
Disease: Productive Cough
Productive Cough
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 17 0.100 None 0
CUI: C1845206
Disease: Decreased circulating renin level
Decreased circulating renin level
phenotype Finding 9 1 0.100 None 0