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: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1 13 0.700 strong 1.000 21 13 2003 2017
CUI: C0340285
Disease: Triple vessel disease of the heart
Triple vessel disease of the heart 		disease Cardiovascular Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C0349415
Disease: Gram-positive septic shock
Gram-positive septic shock 		disease Pathological Conditions, Signs and Symptoms; Infections; Cardiovascular Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C4707954
Disease: Low density lipoprotein receptor adaptor protein 1 mutation
Low density lipoprotein receptor adaptor protein 1 mutation 		disease Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C3276239
Disease: LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1 		phenotype Finding 1 2 0.100 None 0 2
CUI: C4310756
Disease: HYPERALDOSTERONISM, FAMILIAL, TYPE IV
HYPERALDOSTERONISM, FAMILIAL, TYPE IV 		disease Disease or Syndrome 3 3 0.020 None 1.000 2 2017 2018
CUI: C2919414
Disease: Low density lipoprotein receptor mutation
Low density lipoprotein receptor mutation 		disease Disease or Syndrome 4 3 0.010 None 1.000 1 2017 2017
CUI: C0152417
Disease: Congenital stenosis of aortic valve
Congenital stenosis of aortic valve 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 5 0.010 None 1.000 1 2016 2016
CUI: C0264683
Disease: Coronary artery atheroma
Coronary artery atheroma 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 6 0.010 None 1.000 1 2017 2017
CUI: C3549252
Disease: response to statin
response to statin 		phenotype Organism Function 6 8 0.100 None 1.000 1 1 2012 2012
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
CUI: C4022924
Disease: Abnormal eye physiology
Abnormal eye physiology 		phenotype Pathologic Function 6 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: C4025000
Disease: Myocardial steatosis
Myocardial steatosis 		phenotype Finding 6 0.100 None 0
CUI: C0342879
Disease: Primary hypercholesterolemia
Primary hypercholesterolemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 7 2 0.020 None 1.000 2 2018 2018
CUI: C1860488
Disease: Abnormal internal carotid artery morphology
Abnormal internal carotid artery morphology 		disease Finding 7 0.100 None 0
CUI: C1854107
Disease: Hyperaldosteronism, Familial, Type II
Hyperaldosteronism, Familial, Type II 		disease Endocrine System Diseases Disease or Syndrome 8 9 0.020 None 1.000 2 2012 2012
CUI: C0948807
Disease: Hepatic impairment
Hepatic impairment 		phenotype Disease or Syndrome 9 0.010 None 1.000 1 2017 2017
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: C3888506
Disease: LDLR mutation
LDLR mutation 		disease Congenital Abnormality 10 21 0.040 None 1.000 4 6 2006 2014
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia 		disease Disease or Syndrome 10 3 0.030 None 1.000 3 1 2005 2018
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Congenital Abnormality 11 20 0.010 None 1.000 1 2018 2018
CUI: C3267047
Disease: Autoimmune necrotizing myopathy
Autoimmune necrotizing myopathy 		disease Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2019 2019
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 12 24 0.090 None 0.889 9 3 2006 2017