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: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.010 None < 0.001 1 2018 2018
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: C0029453
Disease: Osteopenia
Osteopenia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.010 None < 0.001 1 2010 2010
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.010 None < 0.001 1 1996 1996
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 30 96 0.010 None < 0.001 1 2004 2004
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.020 None 0.500 2 2004 2017
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.020 None 0.500 2 1996 2017
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 219 79 0.030 None 0.667 3 3 2010 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.030 None 0.667 3 1 2014 2019
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		disease Digestive System Diseases Disease or Syndrome 252 90 0.040 None 0.750 4 2004 2013
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 91 28 0.050 None 0.800 5 1 1997 2018
CUI: C3665365
Disease: Arteriosclerotic cardiovascular disease, NOS
Arteriosclerotic cardiovascular disease, NOS 		disease Cardiovascular Diseases Disease or Syndrome 58 5 0.050 None 0.800 5 2017 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.060 None 0.833 6 2000 2019
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1159 704 0.160 None 0.833 6 41 2006 2019
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.070 None 0.857 7 2017 2020
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.070 None 0.857 7 2003 2019
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169 0.260 None 0.875 8 1 1998 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.080 None 0.875 8 2000 2019
CUI: C3888506
Disease: LDLR mutation
LDLR mutation 		disease Congenital Abnormality 10 21 0.080 None 0.875 8 11 2006 2020
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.190 None 0.889 9 3 1993 2013
CUI: C4703473
Disease: Atherosclerotic lesion
Atherosclerotic lesion 		disease Cardiovascular Diseases Disease or Syndrome 253 0.100 None 0.913 23 2000 2019
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		group Nutritional and Metabolic Diseases Disease or Syndrome 471 184 0.400 None 0.917 12 5 1996 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.100 None 0.929 42 7 1997 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.100 None 0.929 14 1 1996 2019
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.200 None 0.950 20 6 1989 2020