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.
Osteoarthrosis, localized, not specified whether primary or secondary
disease Musculoskeletal Diseases Disease or Syndrome 28 0.200 None 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype Finding 129 21 0.100 None 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 225 21 0.100 None 0
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
phenotype Finding 30 17 0.100 None 0 1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 590 77 0.100 None 0
CUI: C1836653
Disease: Ascending aortic dissection
Ascending aortic dissection
phenotype Cardiovascular Diseases Disease or Syndrome 25 1 0.100 None 0
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 510 56 0.100 None 0
CUI: C1836651
Disease: Generalized arterial tortuosity
Generalized arterial tortuosity
phenotype Finding 4 0.100 None 0
CUI: C1836646
Disease: Dermal translucency
Dermal translucency
phenotype Finding 10 2 0.100 None 0
CUI: C0155676
Disease: Pulmonary artery aneurysm
Pulmonary artery aneurysm
phenotype Cardiovascular Diseases Pathologic Function 4 0.100 None 0
Aneurysm of descending thoracic aorta
phenotype Cardiovascular Diseases Anatomical Abnormality 15 0.100 None 0
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 586 53 0.100 None 0
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root
disease Cardiovascular Diseases Anatomical Abnormality 39 15 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
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 267 11 0.100 None 0
CUI: C0013405
Disease: Dyspnea, Paroxysmal
Dyspnea, Paroxysmal
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 16 0.100 None 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum
phenotype Anatomical Abnormality 46 11 0.100 None 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease Eye Diseases Disease or Syndrome 225 12 0.100 None 0
CUI: C0015310
Disease: Exotropia
Exotropia
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 78 23 0.100 None 0
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0 1
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 272 36 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C1851712
Disease: Dural ectasia
Dural ectasia
phenotype Finding 16 1 0.100 None 0
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased
phenotype Finding 30 46 0.100 None 0 1
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
disease Cardiovascular Diseases Disease or Syndrome 411 50 0.100 None 0