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.
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: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 434 138 0.010 None 1.000 1 2016 2016
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
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.010 None 1.000 1 2015 2015
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa
disease Mental Disorders Mental or Behavioral Dysfunction 202 72 0.010 None 1.000 1 2002 2002
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
disease Cardiovascular Diseases Disease or Syndrome 586 90 0.150 None 1.000 6 1 2013 2018
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification
disease Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 79 4 0.010 None 1.000 1 2015 2015
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
disease Cardiovascular Diseases Disease or Syndrome 234 19 0.010 None 1.000 1 2019 2019
CUI: C0003742
Disease: Arcus Senilis
Arcus Senilis
disease Eye Diseases Disease or Syndrome 13 23 0.100 None 0 23
CUI: C0338460
Disease: Argyrophilic grain disease
Argyrophilic grain disease
disease Disease or Syndrome 18 7 0.010 None 1.000 1 1 2002 2002
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.100 None 0.983 240 7 1980 2020
Arteriosclerotic cardiovascular disease, NOS
disease Cardiovascular Diseases Disease or Syndrome 58 5 0.050 None 0.800 5 2017 2020
CUI: C0003862
Disease: Arthralgia
Arthralgia
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 248 27 0.100 None 0
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.010 None 1.000 1 2011 2011
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
disease Neoplasms Neoplastic Process 985 59 0.010 None 1.000 1 1998 1998
CUI: C1563937
Disease: Atherogenesis
Atherogenesis
phenotype Cardiovascular Diseases Pathologic Function 59 0.300 None 1.000 5 2002 2017
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.700 None 0.984 256 8 1980 2020
CUI: C0155733
Disease: Atherosclerosis of aorta
Atherosclerosis of aorta
phenotype Cardiovascular Diseases Disease or Syndrome 37 1 0.030 None 1.000 3 1998 2019
CUI: C4703473
Disease: Atherosclerotic lesion
Atherosclerotic lesion
disease Cardiovascular Diseases Disease or Syndrome 253 0.100 None 0.913 23 2000 2019
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: C1332347
Disease: Atypical Ductal Breast Hyperplasia
Atypical Ductal Breast Hyperplasia
disease Neoplasms Neoplastic Process 80 17 0.100 None 1.000 25 2 1999 2019
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 74 20 0.010 None 1.000 1 2019 2019
CUI: C0740277
Disease: Bile duct carcinoma
Bile duct carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 91 10 0.010 None 1.000 1 1 2008 2008
CUI: C0005396
Disease: Bile Duct Neoplasms
Bile Duct Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 11 0.010 None 1.000 1 2008 2008
CUI: C0267818
Disease: Bile duct proliferation
Bile duct proliferation
disease Digestive System Diseases Disease or Syndrome 30 0.010 None 1.000 1 2019 2019