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: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 23 21 2008 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.100 None 1.000 13 1 1974 2014
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		phenotype Laboratory Procedure 269 555 0.100 None 1.000 12 18 2008 2013
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		phenotype Laboratory Procedure 486 1243 0.100 None 1.000 9 20 2009 2019
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: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		phenotype Laboratory Procedure 433 3282 0.100 None 1.000 2 8 2011 2012
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.020 None 1.000 2 2017 2018
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		phenotype Finding 3 415 0.100 None 1.000 2 413 1992 1992
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype Finding 24 28 0.100 None 1.000 2 1 1992 1992
CUI: C4229399
Disease: Early-onset coronary artery disease
Early-onset coronary artery disease 		phenotype Finding 1 2 0.100 None 1.000 2 2 2011 2013
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 741 81 0.020 None 1.000 2 2017 2020
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 1 2009 2009
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: C0523744
Disease: Lipids measurement
Lipids measurement 		group Laboratory Procedure 27 53 0.100 None 1.000 1 2 2009 2009
CUI: C0741923
Disease: cardiac event
cardiac event 		phenotype Disease or Syndrome 82 18 0.010 None 1.000 1 2019 2019
CUI: C0878552
Disease: Coronary artery ectasia
Coronary artery ectasia 		disease Disease or Syndrome 24 1 0.010 None 1.000 1 2005 2005
CUI: C0948192
Disease: Primary infection NOS
Primary infection NOS 		disease Disease or Syndrome 65 0.010 None 1.000 1 2001 2001
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		phenotype Laboratory Procedure 39 568 0.100 None 1.000 1 1 2011 2011
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None < 0.001 1 2019 2019
CUI: C1301700
Disease: Cardiovascular morbidity
Cardiovascular morbidity 		phenotype Disease or Syndrome 75 2 0.010 None 1.000 1 2019 2019
CUI: C1411966
Disease: Clostridium; difficile (disorder)
Clostridium; difficile (disorder) 		disease Disease or Syndrome 106 0.010 None 1.000 1 2019 2019
CUI: C3160761
Disease: Diabetic dyslipidaemia
Diabetic dyslipidaemia 		disease Disease or Syndrome 28 11 0.010 None 1.000 1 2011 2011
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 0.010 None 1.000 1 1996 1996
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.010 None 1.000 1 1 2013 2013