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: C3888506
Disease: LDLR mutation
LDLR mutation 		disease Congenital Abnormality 10 21 0.080 None 0.875 8 11 2006 2020
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia 		disease Disease or Syndrome 10 3 0.030 None 1.000 3 1989 2014
CUI: C0242073
Disease: Pulmonary congestion
Pulmonary congestion 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2017 2017
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: C1864172
Disease: Peroxisome Biogenesis Disorder, Complementation Group G
Peroxisome Biogenesis Disorder, Complementation Group G 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2007 2007
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: C0432252
Disease: Osteoporosis with pseudoglioma
Osteoporosis with pseudoglioma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 12 37 0.010 None 1.000 1 2006 2006
CUI: C4476910
Disease: Thin-cap fibroatheroma
Thin-cap fibroatheroma 		phenotype Cardiovascular Diseases Acquired Abnormality 12 0.010 None 1.000 1 2013 2013
CUI: C4021796
Disease: Renal steatosis
Renal steatosis 		disease Disease or Syndrome 12 0.100 None 0
CUI: C1704378
Disease: Heymann Nephritis
Heymann Nephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 13 0.010 None 1.000 1 1989 1989
CUI: C0003742
Disease: Arcus Senilis
Arcus Senilis 		disease Eye Diseases Disease or Syndrome 13 23 0.100 None 0 23
CUI: C0221253
Disease: Xanthoma tendinosum
Xanthoma tendinosum 		disease Nutritional and Metabolic Diseases Disease or Syndrome 15 22 0.130 None 1.000 3 21 1991 2005
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 16 42 0.010 None 1.000 1 2007 2007
CUI: C1273976
Disease: First myocardial infarction
First myocardial infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 17 7 0.010 None 1.000 1 2003 2003
CUI: C0263420
Disease: Hyperkeratosis lenticularis perstans
Hyperkeratosis lenticularis perstans 		disease Skin and Connective Tissue Diseases Disease or Syndrome 18 11 0.040 None 1.000 4 1 1992 2011
CUI: C1706412
Disease: Lipidemias
Lipidemias 		phenotype Nutritional and Metabolic Diseases Finding 18 0.300 None 1.000 2 2002 2015
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: C4700045
Disease: Non-ST-segment elevation myocardial infarction (NSTEMI)
Non-ST-segment elevation myocardial infarction (NSTEMI) 		disease Disease or Syndrome 18 1 0.010 None 1.000 1 2016 2016
CUI: C1863512
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE 		disease Nutritional and Metabolic Diseases Disease or Syndrome 19 9 0.100 None 1.000 21 2 2001 2019
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: C1261287
Disease: Stenosis
Stenosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 19 1 0.010 None 1.000 1 2008 2008
CUI: C0043325
Disease: Xanthomatosis
Xanthomatosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 20 10 0.340 None 1.000 5 5 2000 2019
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 11 0.020 None 1.000 2 1996 2005
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 7 0.010 None 1.000 1 1998 1998
CUI: C1096249
Disease: Calcification of the aorta
Calcification of the aorta 		phenotype Pathologic Function 21 0.100 None 0