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: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 25 7 0.020 None 1.000 2 2002 2010
CUI: C0220983
Disease: Metabolic alkalosis
Metabolic alkalosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 27 5 0.100 None 0 1
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 0
CUI: C0020461
Disease: Hyperkalemia
Hyperkalemia
phenotype Nutritional and Metabolic Diseases Finding 32 1 0.100 None 0
CUI: C0149651
Disease: Clubbing
Clubbing
phenotype Sign or Symptom 32 1 0.100 None 0
CUI: C0745130
Disease: Resistant hypertensive disorder
Resistant hypertensive disorder
disease Cardiovascular Diseases Disease or Syndrome 47 14 0.010 None 1.000 1 1 2017 2017
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 0.100 None 0
CUI: C0018520
Disease: Halitosis
Halitosis
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 48 0.100 None 0
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 2 2005 2006
CUI: C0020621
Disease: Hypokalemia
Hypokalemia
phenotype Nutritional and Metabolic Diseases Finding 61 7 0.100 None 0 1
CUI: C0019079
Disease: Hemoptysis
Hemoptysis
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 67 1 0.100 None 0
Pathological accumulation of air in tissues
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 69 6 0.100 None 0
CUI: C0020545
Disease: Hypertension, Renovascular
Hypertension, Renovascular
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 78 8 0.010 None 1.000 1 2004 2004
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome
disease Endocrine System Diseases Disease or Syndrome 82 25 0.010 None 1.000 1 2018 2018
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism
disease Endocrine System Diseases Disease or Syndrome 84 6 0.100 None 0
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis
phenotype Nutritional and Metabolic Diseases Pathologic Function 85 0.100 None 0
CUI: C0009080
Disease: Clubbed Fingers
Clubbed Fingers
disease Musculoskeletal Diseases Anatomical Abnormality 88 1 0.100 None 0
CUI: C0600260
Disease: Lung Diseases, Obstructive
Lung Diseases, Obstructive
group Respiratory Tract Diseases Disease or Syndrome 104 4 0.020 None 1.000 2 2014 2020
CUI: C0020625
Disease: Hyponatremia
Hyponatremia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 109 11 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: C0917798
Disease: Cerebral Ischemia
Cerebral Ischemia
disease Nervous System Diseases; Cardiovascular Diseases Pathologic Function 120 2 0.100 None 0
CUI: C0020649
Disease: Hypotension
Hypotension
phenotype Cardiovascular Diseases Finding 125 2 0.100 None 0
CUI: C0043144
Disease: Wheezing
Wheezing
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 132 54 0.100 None 0
CUI: C3665444
Disease: Neutrophilia (disorder)
Neutrophilia (disorder)
disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 150 1 0.010 None 1.000 1 2018 2018
CUI: C0008031
Disease: Chest Pain
Chest Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 154 7 0.100 None 0