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: C0003864
Disease: Arthritis
Arthritis
disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.100 None 0
CUI: C0003862
Disease: Arthralgia
Arthralgia
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 248 27 0.100 None 0
CUI: C4025000
Disease: Myocardial steatosis
Myocardial steatosis
phenotype Finding 6 0.100 None 0
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis
disease Cardiovascular Diseases Disease or Syndrome 23 38 0.100 None 0
CUI: C0002962
Disease: Angina Pectoris
Angina Pectoris
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Sign or Symptom 139 65 0.100 None 0
CUI: C4021796
Disease: Renal steatosis
Renal steatosis
disease Disease or Syndrome 12 0.100 None 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver
phenotype Finding 75 8 0.100 None 0
CUI: C1859495
Disease: Episodic hemolytic anemia
Episodic hemolytic anemia
phenotype Hemic and Lymphatic Diseases Finding 4 2 0.100 None 0
Abnormal internal carotid artery morphology
disease Finding 7 0.100 None 0
Premature coronary artery atherosclerosis
phenotype Cardiovascular Diseases Disease or Syndrome 87 43 0.100 None 0
CUI: C2697501
Disease: Giant Platelet Count (procedure)
Giant Platelet Count (procedure)
phenotype Laboratory Procedure 10 0.100 None 0
CUI: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm
disease Cardiovascular Diseases Disease or Syndrome 75 17 0.100 None 0
CUI: C0018808
Disease: Heart murmur
Heart murmur
phenotype Pathological Conditions, Signs and Symptoms Finding 31 10 0.100 None 0
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.100 None 0
CUI: C4021654
Disease: Precocious atherosclerosis
Precocious atherosclerosis
phenotype Cardiovascular Diseases Pathologic Function 9 0.100 None 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 302 18 0.100 None 0
Macrothrombocytopenia-Stomatocytosis, Mediterranean
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.300 None 1.000 2 2000 2001
CUI: C0023772
Disease: Lipid Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 0.300 None 1.000 1 2001 2001
CUI: C0043325
Disease: Xanthomatosis
Xanthomatosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 20 10 0.300 None 1.000 1 2001 2001
CUI: C1563937
Disease: Atherogenesis
Atherogenesis
phenotype Cardiovascular Diseases Pathologic Function 59 0.300 None 1.000 1 2001 2001
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 2 2004 2004
CUI: C3714619
Disease: Insulin resistance syndrome
Insulin resistance syndrome
disease Nutritional and Metabolic Diseases Disease or Syndrome 62 15 0.010 None 1.000 1 2 2004 2004
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.200 None 1.000 1 2004 2004
CUI: C0155733
Disease: Atherosclerosis of aorta
Atherosclerosis of aorta
phenotype Cardiovascular Diseases Disease or Syndrome 37 1 0.010 None < 0.001 1 2004 2004
CUI: C0020476
Disease: Hyperlipoproteinemias
Hyperlipoproteinemias
disease Nutritional and Metabolic Diseases Disease or Syndrome 49 7 0.200 None 1.000 1 2005 2005