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: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		phenotype Laboratory Procedure 265 457 0.100 None 1.000 1 1 2016 2016
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		phenotype Laboratory Procedure 223 371 0.100 None 1.000 1 2 2016 2016
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		disease Neoplastic Process 573 14 0.010 None 1.000 1 2002 2002
CUI: C1859308
Disease: PREMATURE CENTROMERE DIVISION
PREMATURE CENTROMERE DIVISION 		disease Disease or Syndrome 66 2 0.010 None 1.000 1 1993 1993
CUI: C3888506
Disease: LDLR mutation
LDLR mutation 		disease Congenital Abnormality 10 21 0.010 None 1.000 1 2013 2013
CUI: C1096249
Disease: Calcification of the aorta
Calcification of the aorta 		phenotype Pathologic Function 21 0.100 None 0
CUI: C1860488
Disease: Abnormal internal carotid artery morphology
Abnormal internal carotid artery morphology 		disease Finding 7 0.100 None 0
CUI: C4021796
Disease: Renal steatosis
Renal steatosis 		disease Disease or Syndrome 12 0.100 None 0
CUI: C4022924
Disease: Abnormal eye physiology
Abnormal eye physiology 		phenotype Pathologic Function 6 0.100 None 0
CUI: C4025000
Disease: Myocardial steatosis
Myocardial steatosis 		phenotype Finding 6 0.100 None 0
CUI: C4025272
Disease: Peripheral arterial stenosis
Peripheral arterial stenosis 		disease Disease or Syndrome 124 5 0.100 None 0
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.150 None 1.000 5 2007 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.020 None 1.000 2 2007 2011
CUI: C1867743
Disease: Premature coronary artery atherosclerosis
Premature coronary artery atherosclerosis 		phenotype Cardiovascular Diseases Disease or Syndrome 87 43 0.120 None 1.000 2 2003 2005
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.010 None 1.000 1 2018 2018
CUI: C3665365
Disease: Arteriosclerotic cardiovascular disease, NOS
Arteriosclerotic cardiovascular disease, NOS 		disease Cardiovascular Diseases Disease or Syndrome 58 5 0.010 None 1.000 1 2018 2018
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		disease Cardiovascular Diseases Disease or Syndrome 23 38 0.100 None 0
CUI: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm 		disease Cardiovascular Diseases Disease or Syndrome 75 17 0.100 None 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.100 None 0
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		phenotype Cardiovascular Diseases Pathologic Function 94 11 0.100 None 0
CUI: C0242698
Disease: Ventricular Dysfunction, Left
Ventricular Dysfunction, Left 		phenotype Cardiovascular Diseases Pathologic Function 88 0.100 None 0
CUI: C1848486
Disease: Premature arteriosclerosis
Premature arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 9 0.100 None 0
CUI: C4021654
Disease: Precocious atherosclerosis
Precocious atherosclerosis 		phenotype Cardiovascular Diseases Pathologic Function 9 0.100 None 0
CUI: C4024924
Disease: Cerebral artery atherosclerosis
Cerebral artery atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 6 0.100 None 0
CUI: C4022811
Disease: Abnormality of nervous system physiology
Abnormality of nervous system physiology 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Pathologic Function 6 0.100 None 0