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: C0598784
Disease: Dyslipoproteinemias
Dyslipoproteinemias 		phenotype Nutritional and Metabolic Diseases Pathologic Function 24 0.300 None 1.000 1 2010 2010
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: C0020507
Disease: Hyperplasia
Hyperplasia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 131 0.300 None 1.000 1 1997 1997
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 164 139 0.300 None 1.000 1 2002 2002
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
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: 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: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 130 68 0.300 None 1.000 1 2002 2002
CUI: C0035126
Disease: Reperfusion Injury
Reperfusion Injury 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Injury or Poisoning 300 0.200 None 1.000 1 2006 2006
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.200 None 1.000 1 2008 2008
CUI: C0002962
Disease: Angina Pectoris
Angina Pectoris 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Sign or Symptom 139 65 0.110 None 1.000 1 2 2008 2008
CUI: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm 		disease Cardiovascular Diseases Disease or Syndrome 75 17 0.110 None 1.000 1 2005 2005
CUI: C0155210
Disease: Eyelid Xanthoma
Eyelid Xanthoma 		disease Nutritional and Metabolic Diseases; Eye Diseases Disease or Syndrome 19 32 0.110 None 1.000 1 31 2019 2019
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		disease Cardiovascular Diseases Disease or Syndrome 152 16 0.110 None 1.000 1 1 2018 2018
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		phenotype Laboratory Procedure 39 568 0.100 None 1.000 1 1 2011 2011
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.100 None 1.000 1 1 2012 2012
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 1 2009 2009
CUI: C0523744
Disease: Lipids measurement
Lipids measurement 		group Laboratory Procedure 27 53 0.100 None 1.000 1 2 2009 2009
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic 		disease Digestive System Diseases Congenital Abnormality 26 306 0.100 None 1.000 1 1 2012 2012
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		phenotype Nutritional and Metabolic Diseases; Cardiovascular Diseases Pathologic Function 51 205 0.100 None 1.000 1 1 2012 2012
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		disease Eye Diseases Disease or Syndrome 383 222 0.010 None 1.000 1 2000 2000
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 211 49 0.010 None 1.000 1 2019 2019
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		disease Cardiovascular Diseases Disease or Syndrome 230 93 0.010 None 1.000 1 2018 2018
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.010 None 1.000 1 2019 2019