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: C4229399
Disease: Early-onset coronary artery disease
Early-onset coronary artery disease 		phenotype Finding 1 2 0.100 None 1.000 2 2 2011 2013
CUI: C0152255
Disease: Pinguecula
Pinguecula 		disease Eye Diseases Disease or Syndrome 1 0.010 None 1.000 1 2004 2004
CUI: C0741026
Disease: Atypical angina
Atypical angina 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1 2 0.010 None 1.000 1 2 2008 2008
CUI: C0853689
Disease: Secondary hyperlipidemia
Secondary hyperlipidemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 1 0.010 None < 0.001 1 2001 2001
CUI: C1275461
Disease: Familial hypercholesterolemia due to genetic defect of apolipoprotein B
Familial hypercholesterolemia due to genetic defect of apolipoprotein B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C1390512
Disease: Bone xanthoma
Bone xanthoma 		disease Musculoskeletal Diseases Disease or Syndrome 1 0.010 None 1.000 1 2015 2015
CUI: C0151826
Disease: Retrosternal pain
Retrosternal pain 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Sign or Symptom 2 7 0.010 None 1.000 1 3 1998 1998
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		phenotype Finding 3 415 0.100 None 1.000 2 413 1992 1992
CUI: C0596848
Disease: lipoprotein disorder
lipoprotein disorder 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.010 None 1.000 1 1999 1999
CUI: C0338585
Disease: Dissection of carotid artery
Dissection of carotid artery 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 3 1 0.100 None 0 1
CUI: C0751815
Disease: Carotid Artery, Internal, Dissection
Carotid Artery, Internal, Dissection 		disease Nervous System Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 4 1 0.100 None 0 1
CUI: C2673196
Disease: LIPOPROTEIN GLOMERULOPATHY
LIPOPROTEIN GLOMERULOPATHY 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 5 3 0.020 None 1.000 2 2001 2018
CUI: C2675518
Disease: Adiponectin Deficiency
Adiponectin Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 5 0.010 None 1.000 1 2013 2013
CUI: C3151466
Disease: HEPATIC LIPASE DEFICIENCY (disorder)
HEPATIC LIPASE DEFICIENCY (disorder) 		disease Nutritional and Metabolic Diseases Disease or Syndrome 5 4 0.010 None 1.000 1 2008 2008
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 29 0.010 None 1.000 1 2008 2008
CUI: C2973787
Disease: Coxiella burnetii Infection
Coxiella burnetii Infection 		disease Infections Disease or Syndrome 6 0.300 None 1.000 1 2006 2006
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 0.040 None 1.000 4 1 1998 2014
CUI: C1860488
Disease: Abnormal internal carotid artery morphology
Abnormal internal carotid artery morphology 		disease Finding 7 0.100 None 0
CUI: C1843366
Disease: NIEMANN-PICK DISEASE, TYPE C2
NIEMANN-PICK DISEASE, TYPE C2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 9 22 0.010 None 1.000 1 2018 2018
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