Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease 0.900 strong 0.982 456 1279 1964 2020
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		disease 0.200 None 0.992 182 54 1975 2020
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		disease 0.800 strong 0.977 37 515 1975 2020
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype 0.100 None 1.000 23 21 2008 2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		phenotype 0.100 None 1.000 12 18 2008 2013
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		phenotype 0.100 None 1.000 9 20 2009 2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C4229399
Disease: Early-onset coronary artery disease
Early-onset coronary artery disease 		phenotype 0.100 None 1.000 2 2 2011 2013
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		phenotype 0.100 None 1.000 2 413 1992 1992
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease 0.500 None 0.989 2 2 1986 2020
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		disease 0.150 None 1.000 2 1 2013 2018
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype 0.100 None 1.000 2 1 1992 1992
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease 0.500 None 0.967 2 2 1986 2020
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		phenotype 0.100 None 1.000 2 8 2011 2012
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease 0.100 None 1.000 1 1 2012 2012
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		phenotype 0.100 None 1.000 1 1 2009 2009
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group 0.200 None 1.000 1 1 1995 2020
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0523744
Disease: Lipids measurement
Lipids measurement 		group 0.100 None 1.000 1 2 2009 2009
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		phenotype 0.100 None 1.000 1 1 2011 2011
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		phenotype 0.100 None 1.000 1 1 2012 2012
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic 		disease 0.100 None 1.000 1 1 2012 2012
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease 0.700 None 0.984 1 1 1980 2020
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C1096249
Disease: Calcification of the aorta
Calcification of the aorta 		phenotype 0.100 None 0 0
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		disease 0.160 None 0.833 0 36 2006 2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0751815
Disease: Carotid Artery, Internal, Dissection
Carotid Artery, Internal, Dissection 		disease 0.100 None 0 1
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0549399
Disease: Low density lipoprotein increased
Low density lipoprotein increased 		phenotype 0.100 None 0 318