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: C4277690
Disease: Ciliopathies
Ciliopathies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.300 None 0
CUI: C0235063
Disease: Respiratory Depression
Respiratory Depression
phenotype Respiratory Tract Diseases Pathologic Function 24 5 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 1
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis
phenotype Nutritional and Metabolic Diseases Pathologic Function 85 0.100 None 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.100 None 0
CUI: C0149651
Disease: Clubbing
Clubbing
phenotype Sign or Symptom 32 1 0.100 None 0
CUI: C0085570
Disease: Hypokalemic alkalosis
Hypokalemic alkalosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 10 1 0.100 None 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype Finding 305 22 0.100 None 0
CUI: C0042963
Disease: Vomiting
Vomiting
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 303 23 0.100 None 0
CUI: C0034642
Disease: Rales
Rales
phenotype Pathological Conditions, Signs and Symptoms Finding 23 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: C0043144
Disease: Wheezing
Wheezing
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 132 54 0.100 None 0
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.100 None 0
CUI: C0020649
Disease: Hypotension
Hypotension
phenotype Cardiovascular Diseases Finding 125 2 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
Decreased circulating aldosterone level
phenotype Immune System Diseases; Endocrine System Diseases Finding 16 0.100 None 0
Recurrent Haemophilus influenzae infections
phenotype Finding 7 0.100 None 0
CUI: C4023112
Disease: Acute infectious pneumonia
Acute infectious pneumonia
disease Disease or Syndrome 7 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
Recurrent lower respiratory tract infection
phenotype Disease or Syndrome 23 0.100 None 0
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 0
CUI: C1846347
Disease: Renal salt wasting
Renal salt wasting
phenotype Finding 22 0.100 None 0
Hyperactive renin-angiotensin system
phenotype Finding 8 0.100 None 0
CUI: C1845206
Disease: Decreased circulating renin level
Decreased circulating renin level
phenotype Finding 9 1 0.100 None 0 1
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