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: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		disease Cardiovascular Diseases Disease or Syndrome 1 7 0.700 None 1.000 9 7 2004 2017
CUI: C3279695
Disease: ATRIAL FIBRILLATION, FAMILIAL, 12
ATRIAL FIBRILLATION, FAMILIAL, 12 		disease Disease or Syndrome 1 2 0.700 None 1.000 5 2 2004 2017
CUI: C0796280
Disease: Acromegaloid facial appearance syndrome
Acromegaloid facial appearance syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2013 2013
CUI: C1855889
Disease: Widened posterior fossa
Widened posterior fossa 		phenotype Finding 1 0.100 None 0
CUI: C1855901
Disease: Congenital hypertrophy of left ventricle
Congenital hypertrophy of left ventricle 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Congenital Abnormality 1 0.100 None 0
CUI: C4024617
Disease: Hypoplastic ischiopubic rami
Hypoplastic ischiopubic rami 		phenotype Finding 1 0.100 None 0
CUI: C2673653
Disease: Cuboid-shaped vertebral bodies
Cuboid-shaped vertebral bodies 		phenotype Finding 2 0.100 None 0
CUI: C4025009
Disease: Impaired myocardial contractility
Impaired myocardial contractility 		disease Disease or Syndrome 2 0.100 None 0
CUI: C2931193
Disease: Prinzmetal's variant angina
Prinzmetal's variant angina 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 3 0.010 None 1.000 1 2002 2002
CUI: C1843677
Disease: Large sella turcica
Large sella turcica 		phenotype Finding 3 0.100 None 0
CUI: C4023921
Disease: Oral synechia
Oral synechia 		phenotype Finding 3 0.100 None 0
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 4 14 0.800 definitive 0.950 20 12 1996 2020
CUI: C1855899
Disease: Broad first metatarsal
Broad first metatarsal 		phenotype Finding 4 1 0.100 None 0
CUI: C0235864
Disease: Congenital hypertrichosis lanuginosa
Congenital hypertrichosis lanuginosa 		disease Skin and Connective Tissue Diseases Congenital Abnormality 6 0.010 None 1.000 1 2015 2015
CUI: C2936812
Disease: Congenital hypertrichosis
Congenital hypertrichosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Congenital Abnormality 6 0.010 None 1.000 1 2015 2015
CUI: C1855895
Disease: Erlenmeyer flask deformity of the femurs
Erlenmeyer flask deformity of the femurs 		phenotype Finding 7 0.100 None 0
CUI: C0878486
Disease: Arteriolosclerosis
Arteriolosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 13 2 0.020 None 1.000 2 1 2016 2017
CUI: C0151879
Disease: Shortened QT interval
Shortened QT interval 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 13 0.300 limited 1.000 1 2005 2005
CUI: C2673670
Disease: Curly eyelashes
Curly eyelashes 		phenotype Finding 15 0.100 None 0
CUI: C1846423
Disease: Thick upper lip vermilion
Thick upper lip vermilion 		phenotype Finding 16 4 0.100 None 0
CUI: C1844809
Disease: Thick nasal alae
Thick nasal alae 		phenotype Finding 17 0.100 None 0
CUI: C4021343
Disease: Broad hallux phalanx
Broad hallux phalanx 		disease Anatomical Abnormality 17 0.100 None 0
CUI: C1848654
Disease: Broad ribs
Broad ribs 		phenotype Finding 18 0.100 None 0
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		phenotype Finding 19 6 0.100 None 0
CUI: C1843687
Disease: ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 22 1 0.300 None 1.000 1 2007 2007