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.
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
disease Nutritional and Metabolic Diseases Disease or Syndrome 16 6 0.900 0.929 21 6 1973 2018
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 153 1189 0.370 strong 1.000 7 2002 2016
Familial hypercholesterolemia - homozygous
disease Disease or Syndrome 7 0.300 0
CUI: C0678189
Disease: Hyperlipidemia, group A
Hyperlipidemia, group A
disease Disease or Syndrome 1 0.200 2 2003 2005
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 239 63 0.190 0.600 9 2002 2014
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1133 131 0.120 1.000 2 2011 2012
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Cardiovascular Diseases Disease or Syndrome 965 454 0.110 1.000 1 2014 2014
CUI: C0750145
Disease: Occlusive vascular disease
Occlusive vascular disease
disease Disease or Syndrome 16 0.100 0
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death
phenotype Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Pathologic Function 49 2 0.100 0
Peripheral arterial occlusive disease
disease Disease or Syndrome 35 0.100 0
CUI: C1848486
Disease: Premature arteriosclerosis
Premature arteriosclerosis
disease Disease or Syndrome 9 0.100 0
CUI: C0595929
Disease: Serum cholesterol raised
Serum cholesterol raised
phenotype Finding 29 0.100 0
Abnormality of internal carotid artery
phenotype Anatomical Abnormality 6 0.100 0
CUI: C0553982
Disease: Impaired left ventricular function
Impaired left ventricular function
phenotype Finding 21 0.100 0
CUI: C4531019
Disease: Arterial disease of legs
Arterial disease of legs
disease Disease or Syndrome 12 0.100 0
CUI: C1867743
Disease: Premature coronary artery disease
Premature coronary artery disease
phenotype Disease or Syndrome 50 12 0.100 0
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 568 41 0.100 0
CUI: C4280569
Disease: Plaque build-up in arteries
Plaque build-up in arteries
phenotype Finding 11 0.100 0
CUI: C4280503
Disease: Premature hardening of arteries
Premature hardening of arteries
disease Disease or Syndrome 8 0.100 0
Premature plaque build-up in arteries
phenotype Pathologic Function 7 0.100 0
CUI: C4025272
Disease: Peripheral arterial stenosis
Peripheral arterial stenosis
disease Disease or Syndrome 13 0.100 0
CUI: C4025000
Disease: Myocardial steatosis
Myocardial steatosis
phenotype Finding 6 0.100 0
CUI: C4024924
Disease: Cerebral artery atherosclerosis
Cerebral artery atherosclerosis
disease Disease or Syndrome 6 0.100 0
Increased circulating very-low-density lipoprotein levels
phenotype Finding 5 0.100 0
CUI: C4021654
Disease: Precocious atherosclerosis
Precocious atherosclerosis
phenotype Pathologic Function 7 0.100 0