LDLR, low density lipoprotein receptor, 3949

N. diseases: 27; N. variants: 1386
Source: CURATED ×
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 18 1368 0.900 strong 0.982 9 1279 1964 2020
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 39 10 0.900 strong 0.977 6 10 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 16 565 0.800 strong 0.977 61 558 1975 2020
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 59 11 0.700 None 0.984 5 1 1980 2020
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
disease Digestive System Diseases Disease or Syndrome 88 0.640 None 1.000 1 1997 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 65 627 0.500 None 0.989 2 2 1986 2020
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 17 0.500 None 1.000 2 1990 2020
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 24 469 0.500 None 0.967 1 2 1986 2020
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 88 9 0.430 None 1.000 1 2011 2019
CUI: C1704417
Disease: Hyperlipoproteinemia Type IIb
Hyperlipoproteinemia Type IIb
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13 11 0.400 None 1.000 7 1990 2017
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 65 0.400 None 0.986 2 1988 2020
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 205 266 0.400 None 1.000 1 1992 2018
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
group Nutritional and Metabolic Diseases Disease or Syndrome 24 0.400 None 0.917 1 1996 2019
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
disease Digestive System Diseases Disease or Syndrome 70 47 0.370 None 1.000 3 2009 2016
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 70 3 0.320 None 1.000 3 2010 2020
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 67 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 17 0.300 None 1.000 2 2002 2015
Amyotrophic Lateral Sclerosis, Sporadic
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 48 51 0.300 None 1.000 1 2002 2002
CUI: C2973787
Disease: Coxiella burnetii Infection
Coxiella burnetii Infection
disease Infections Disease or Syndrome 5 0.300 None 1.000 1 2006 2006
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 50 103 0.300 None 1.000 1 2002 2002
CUI: C1443892
Disease: Chronic Q Fever
Chronic Q Fever
disease Infections Disease or Syndrome 5 0.300 None 1.000 1 2006 2006
CUI: C0598784
Disease: Dyslipoproteinemias
Dyslipoproteinemias
phenotype Nutritional and Metabolic Diseases Pathologic Function 24 0.300 None 1.000 1 2010 2010
CUI: C0519066
Disease: Acute Q fever
Acute Q fever
disease Infections Disease or Syndrome 5 0.300 None 1.000 1 2006 2006
CUI: C0034362
Disease: Q Fever
Q Fever
disease Infections Disease or Syndrome 5 0.300 None 1.000 1 2006 2006