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: C0678189
Disease: Hyperlipidemia, group A
Hyperlipidemia, group A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 1 0.200 None 1.000 2 2003 2004
CUI: C4021729
Disease: Increased VLDL cholesterol concentration
Increased VLDL cholesterol concentration 		phenotype Nutritional and Metabolic Diseases Finding 5 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
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: C1860488
Disease: Abnormal internal carotid artery morphology
Abnormal internal carotid artery morphology 		disease Finding 7 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: C3888506
Disease: LDLR mutation
LDLR mutation 		disease Congenital Abnormality 10 21 0.010 None 1.000 1 2013 2013
CUI: C4021796
Disease: Renal steatosis
Renal steatosis 		disease Disease or Syndrome 12 0.100 None 0
CUI: C0221253
Disease: Xanthoma tendinosum
Xanthoma tendinosum 		disease Nutritional and Metabolic Diseases Disease or Syndrome 15 22 0.100 None 0
CUI: C1863512
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE 		disease Nutritional and Metabolic Diseases Disease or Syndrome 19 9 1.000 strong 1.000 31 7 2001 2020
CUI: C1096249
Disease: Calcification of the aorta
Calcification of the aorta 		phenotype Pathologic Function 21 0.100 None 0
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 23 72 0.550 None 1.000 8 2001 2019
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		disease Cardiovascular Diseases Disease or Syndrome 23 38 0.100 None 0
CUI: C0549399
Disease: Low density lipoprotein increased
Low density lipoprotein increased 		phenotype Nutritional and Metabolic Diseases Finding 23 318 0.100 None 0
CUI: C0302314
Disease: Xanthoma
Xanthoma 		disease Nutritional and Metabolic Diseases Disease or Syndrome 29 4 0.010 None 1.000 1 2011 2011
CUI: C0018808
Disease: Heart murmur
Heart murmur 		phenotype Pathological Conditions, Signs and Symptoms Finding 31 10 0.100 None 0
CUI: C1136084
Disease: Plasma cell dyscrasia
Plasma cell dyscrasia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 36 0.010 None 1.000 1 1993 1993
CUI: C0035067
Disease: Renal Artery Stenosis
Renal Artery Stenosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 37 8 0.100 None 0
CUI: C1959632
Disease: Plasma Cell Neoplasm
Plasma Cell Neoplasm 		disease Neoplasms Neoplastic Process 46 2 0.010 None 1.000 1 1993 1993
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: C1859308
Disease: PREMATURE CENTROMERE DIVISION
PREMATURE CENTROMERE DIVISION 		disease Disease or Syndrome 66 2 0.010 None 1.000 1 1993 1993
CUI: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm 		disease Cardiovascular Diseases Disease or Syndrome 75 17 0.100 None 0