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: C1709103
Disease: Myxoinflammatory fibroblastic sarcoma
Myxoinflammatory fibroblastic sarcoma 		disease Neoplastic Process 8 0.070 None 1.000 7 2011 2017
CUI: C4053521
Disease: Hemosiderotic Fibrolipomatous Tumor
Hemosiderotic Fibrolipomatous Tumor 		disease Neoplastic Process 4 0.060 None 1.000 6 2011 2017
CUI: C1709569
Disease: Pleomorphic hyalinizing angiectatic tumor of soft tissue
Pleomorphic hyalinizing angiectatic tumor of soft tissue 		disease Neoplastic Process 5 0.040 None 1.000 4 2012 2019
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome 		disease Disease or Syndrome 19 0.030 None 1.000 3 2012 2019
CUI: C3839767
Disease: Pleomorphic hyalinizing angiectatic tumor
Pleomorphic hyalinizing angiectatic tumor 		disease Neoplastic Process 3 0.030 None 0.667 3 2016 2019
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 2 2019 2019
CUI: C0005938
Disease: Bone Density
Bone Density 		phenotype Clinical Attribute 138 654 0.100 None 1.000 1 1 2009 2009
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		phenotype Diagnostic Procedure 54 314 0.100 None 1.000 1 1 2009 2009
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2012 2012
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 1 2012 2012
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		phenotype Clinical Attribute 75 226 0.100 None 1.000 1 1 2017 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2013 2013
CUI: C4509226
Disease: Heart failure with preserved ejection fraction [HFpEF]
Heart failure with preserved ejection fraction [HFpEF] 		disease Disease or Syndrome 89 4 0.010 None 1.000 1 2017 2017
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		phenotype Finding 21 2 0.100 None 0
CUI: C4022868
Disease: Abnormal circle of Willis morphology
Abnormal circle of Willis morphology 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.010 None 1.000 1 2012 2012
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2012 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.110 None 1.000 1 2008 2008
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.100 None 0
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		disease Cardiovascular Diseases Disease or Syndrome 152 16 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
CUI: C2713497
Disease: Saccular Aneurysm
Saccular Aneurysm 		disease Cardiovascular Diseases Pathologic Function 5 0.100 None 0
CUI: C0013743
Disease: Eisenmenger Complex
Eisenmenger Complex 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 13 0.010 None 1.000 1 2008 2008
CUI: C0027773
Disease: Nesidioblastosis
Nesidioblastosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 12 0.010 None 1.000 1 2009 2009
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.010 None 1.000 1 2019 2019