LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
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: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 203 1423 0.900 strong 0.982 955 1292 1964 2020
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 489 123 0.900 strong 0.977 173 35 1982 2020
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 201 661 0.800 strong 0.977 664 600 1975 2020
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.700 None 0.984 256 8 1980 2020
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		disease Digestive System Diseases Disease or Syndrome 875 35 0.640 None 1.000 14 1997 2019
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.500 None 0.967 91 11 1986 2020
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.500 None 0.989 89 16 1986 2020
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 472 83 0.500 None 1.000 36 1 1990 2020
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 1143 75 0.430 None 1.000 4 2 2011 2019
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.400 None 0.986 72 7 1988 2020
CUI: C1704417
Disease: Hyperlipoproteinemia Type IIb
Hyperlipoproteinemia Type IIb 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 25 16 0.400 None 1.000 30 2 1990 2017
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.400 None 1.000 18 1992 2018
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		group Nutritional and Metabolic Diseases Disease or Syndrome 471 184 0.400 None 0.917 12 5 1996 2019
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		disease Digestive System Diseases Disease or Syndrome 1058 222 0.370 None 1.000 10 2009 2016
CUI: C0043325
Disease: Xanthomatosis
Xanthomatosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 20 10 0.340 None 1.000 5 5 2000 2019
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 434 17 0.320 None 1.000 5 2010 2020
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 156 24 0.310 None 1.000 1 2006 2006
CUI: C1563937
Disease: Atherogenesis
Atherogenesis 		phenotype Cardiovascular Diseases Pathologic Function 59 0.300 None 1.000 5 2002 2017
CUI: C1706412
Disease: Lipidemias
Lipidemias 		phenotype Nutritional and Metabolic Diseases Finding 18 0.300 None 1.000 2 2002 2015
CUI: C1443892
Disease: Chronic Q Fever
Chronic Q Fever 		disease Infections Disease or Syndrome 22 9 0.300 None 1.000 1 2006 2006
CUI: C0519066
Disease: Acute Q fever
Acute Q fever 		disease Infections Disease or Syndrome 10 3 0.300 None 1.000 1 2006 2006
CUI: C0020507
Disease: Hyperplasia
Hyperplasia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 131 0.300 None 1.000 1 1997 1997
CUI: C0034362
Disease: Q Fever
Q Fever 		disease Infections Disease or Syndrome 26 0.300 None 1.000 1 2006 2006
CUI: C2973787
Disease: Coxiella burnetii Infection
Coxiella burnetii Infection 		disease Infections Disease or Syndrome 6 0.300 None 1.000 1 2006 2006
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 173 90 0.300 None 1.000 1 2002 2002