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: 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: C1844592
Disease: Soft skin
Soft skin 		phenotype Finding 22 3 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1866231
Disease: Full cheeks
Full cheeks 		phenotype Finding 103 4 0.100 None 0
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 106 40 0.100 None 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0
CUI: C2675021
Disease: Narrow palpebral fissure
Narrow palpebral fissure 		phenotype Finding 34 3 0.100 None 0
CUI: C0004144
Disease: Atelectasis
Atelectasis 		phenotype Respiratory Tract Diseases Pathologic Function 62 2 0.100 None 0
CUI: C2749369
Disease: Prominence of the premaxilla
Prominence of the premaxilla 		phenotype Finding 5 1 0.100 None 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		phenotype Finding 181 12 0.100 None 0
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: C3805574
Disease: Increased fracture rate
Increased fracture rate 		phenotype Finding 123 0.100 None 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype Finding 159 25 0.100 None 0
CUI: C1836651
Disease: Generalized arterial tortuosity
Generalized arterial tortuosity 		phenotype Finding 4 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: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.100 None 0
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: C0016052
Disease: Fibromuscular Dysplasia
Fibromuscular Dysplasia 		disease Cardiovascular Diseases Disease or Syndrome 47 3 0.100 None 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		disease Eye Diseases Disease or Syndrome 225 12 0.100 None 0
CUI: C0013990
Disease: Pathological accumulation of air in tissues
Pathological accumulation of air in tissues 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 69 6 0.100 None 0
CUI: C2315541
Disease: Diverticulum of renal calyx
Diverticulum of renal calyx 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 2 0.100 None 0
CUI: C1395674
Disease: Bowel diverticulosis
Bowel diverticulosis 		disease Disease or Syndrome 5 0.100 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: 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: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.010 None < 0.001 1 2015 2015