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: C0024115
Disease: Lung diseases
Lung diseases
group Respiratory Tract Diseases Disease or Syndrome 700 50 0.300 limited 0
CUI: C0265010
Disease: Ruptured thoracic aortic aneurysm
Ruptured thoracic aortic aneurysm
disease Respiratory Tract Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 5 0.200 None 0
CUI: C0265012
Disease: Ruptured abdominal aortic aneurysm
Ruptured abdominal aortic aneurysm
disease Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 5 0.200 None 0
CUI: C0741160
Disease: Aortic Aneurysm, Ruptured
Aortic Aneurysm, Ruptured
disease Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 13 1 0.200 None 0
Thoracoabdominal aortic aneurysm, ruptured
disease Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 5 0.200 None 0
CUI: C0156273
Disease: Bladder Diverticulum
Bladder Diverticulum
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Acquired Abnormality 18 0.100 None 0
CUI: C0277828
Disease: Late fontanel closure
Late fontanel closure
phenotype Finding 41 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0
CUI: C0581342
Disease: Redundant skin
Redundant skin
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Pathologic Function 48 2 0.100 None 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype Finding 85 9 0.100 None 0
CUI: C1258215
Disease: Ileus
Ileus
disease Digestive System Diseases Disease or Syndrome 20 0.100 None 0
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.100 None 0
CUI: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection
disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 237 21 0.100 None 0
CUI: C0155676
Disease: Pulmonary artery aneurysm
Pulmonary artery aneurysm
phenotype Cardiovascular Diseases Pathologic Function 4 0.100 None 0
CUI: C0086437
Disease: Joint laxity
Joint laxity
phenotype Musculoskeletal Diseases Pathologic Function 224 15 0.100 None 0
CUI: C0038449
Disease: Stricture of artery
Stricture of artery
phenotype Cardiovascular Diseases Pathologic Function 16 0.100 None 0
CUI: C0037301
Disease: Skin Wrinkling
Skin Wrinkling
phenotype Finding 12 1 0.100 None 0
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 239 31 0.100 None 0
CUI: C0034088
Disease: Pulmonary Valve Insufficiency
Pulmonary Valve Insufficiency
phenotype Cardiovascular Diseases Pathologic Function 22 2 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose
phenotype Finding 123 13 0.100 None 0
CUI: C0033377
Disease: Ptosis
Ptosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0
CUI: C0016052
Disease: Fibromuscular Dysplasia
Fibromuscular Dysplasia
disease Cardiovascular Diseases Disease or Syndrome 47 3 0.100 None 0