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: 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
Carotid Artery, Internal, Dissection
disease Nervous System Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 4 1 0.100 None 0 1
CUI: C4021654
Disease: Precocious atherosclerosis
Precocious atherosclerosis
phenotype Cardiovascular Diseases Pathologic Function 9 0.100 None 0
CUI: C4021796
Disease: Renal steatosis
Renal steatosis
disease Disease or Syndrome 12 0.100 None 0
CUI: C0549399
Disease: Low density lipoprotein increased
Low density lipoprotein increased
phenotype Nutritional and Metabolic Diseases Finding 23 318 0.100 None 0 318
CUI: C0013404
Disease: Dyspnea
Dyspnea
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 222 26 0.100 None 0
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: C4025272
Disease: Peripheral arterial stenosis
Peripheral arterial stenosis
disease Disease or Syndrome 124 5 0.100 None 0
CUI: C0265101
Disease: Carotid artery occlusion
Carotid artery occlusion
phenotype Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 74 1 0.100 None 0 1
CUI: C0242698
Disease: Ventricular Dysfunction, Left
Ventricular Dysfunction, Left
phenotype Cardiovascular Diseases Pathologic Function 88 0.100 None 0
CUI: C0003862
Disease: Arthralgia
Arthralgia
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 248 27 0.100 None 0
CUI: C0035067
Disease: Renal Artery Stenosis
Renal Artery Stenosis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 37 8 0.100 None 0
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 133 40 0.100 None 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve
group Eye Diseases; Nervous System Diseases Disease or Syndrome 112 2 0.100 None 0
CUI: C1848486
Disease: Premature arteriosclerosis
Premature arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 9 0.100 None 0
Abnormal internal carotid artery morphology
disease Finding 7 0.100 None 0
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency
phenotype Cardiovascular Diseases Pathologic Function 94 11 0.100 None 0
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis
disease Cardiovascular Diseases Disease or Syndrome 23 38 0.100 None 0
CUI: C1096249
Disease: Calcification of the aorta
Calcification of the aorta
phenotype Pathologic Function 21 0.100 None 0
CUI: C0003742
Disease: Arcus Senilis
Arcus Senilis
disease Eye Diseases Disease or Syndrome 13 23 0.100 None 0 23
CUI: C0018808
Disease: Heart murmur
Heart murmur
phenotype Pathological Conditions, Signs and Symptoms Finding 31 10 0.100 None 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 65 19 0.010 None 1.000 1 1975 1975