DisGeNET - a database of gene-disease associations

Source: INFERRED

Gene: LDLR ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

low density lipoprotein receptor

0.449

0.885

9.8E-24

CUI:	C0242698
Disease:	Ventricular Dysfunction, Left

Ventricular Dysfunction, Left

phenotype

0.100

None

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

low density lipoprotein receptor

0.449

0.885

9.8E-24

CUI:	C4025000
Disease:	Myocardial steatosis

Myocardial steatosis

phenotype

0.100

None

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

low density lipoprotein receptor

0.449

0.885

9.8E-24

CUI:	C4021654
Disease:	Precocious atherosclerosis

Precocious atherosclerosis

phenotype

0.100

None

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

low density lipoprotein receptor

0.449

0.885

9.8E-24

CUI:	C0026266
Disease:	Mitral Valve Insufficiency

Mitral Valve Insufficiency

phenotype

0.100

None

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

low density lipoprotein receptor

0.449

0.885

9.8E-24

CUI:	C4022811
Disease:	Abnormality of nervous system physiology

Abnormality of nervous system physiology

phenotype

0.100

None

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

low density lipoprotein receptor

0.449

0.885

9.8E-24

CUI:	C0029132
Disease:	Disorder of the optic nerve

Disorder of the optic nerve

group

0.100

None

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

low density lipoprotein receptor

0.449

0.885

9.8E-24

CUI:	C0035067
Disease:	Renal Artery Stenosis

Renal Artery Stenosis

disease

0.100

None

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

low density lipoprotein receptor

0.449

0.885

9.8E-24

CUI:	C4022924
Disease:	Abnormal eye physiology

Abnormal eye physiology

phenotype

0.100

None

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

low density lipoprotein receptor

0.449

0.885

9.8E-24

CUI:	C0085298
Disease:	Sudden Cardiac Death

Sudden Cardiac Death

phenotype

0.100

None

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

318

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

low density lipoprotein receptor

0.449

0.885

9.8E-24

CUI:	C4025272
Disease:	Peripheral arterial stenosis

Peripheral arterial stenosis

disease

0.100

None

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

low density lipoprotein receptor

0.449

0.885

9.8E-24

CUI:	C4024924
Disease:	Cerebral artery atherosclerosis

Cerebral artery atherosclerosis

disease

0.100

None

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

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

low density lipoprotein receptor

0.449

0.885

9.8E-24

CUI:	C0018808
Disease:	Heart murmur

Heart murmur

phenotype

0.100

None

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

low density lipoprotein receptor

0.449

0.885

9.8E-24

CUI:	C0003499
Disease:	Supravalvular aortic stenosis

Supravalvular aortic stenosis

disease

0.100

None

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

low density lipoprotein receptor

0.449

0.885

9.8E-24

CUI:	C0003742
Disease:	Arcus Senilis

Arcus Senilis

disease

0.100

None

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

low density lipoprotein receptor

0.449

0.885

9.8E-24

CUI:	C0003862
Disease:	Arthralgia

Arthralgia

phenotype

0.100

None

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

low density lipoprotein receptor

0.449

0.885

9.8E-24

CUI:	C0265101
Disease:	Carotid artery occlusion

Carotid artery occlusion

phenotype

0.100

None

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

low density lipoprotein receptor

0.449

0.885

9.8E-24

CUI:	C1860488
Disease:	Abnormal internal carotid artery morphology

Abnormal internal carotid artery morphology

disease

0.100

None

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

low density lipoprotein receptor

0.449

0.885

9.8E-24

CUI:	C0338585
Disease:	Dissection of carotid artery

Dissection of carotid artery

disease

0.100

None

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

low density lipoprotein receptor

0.449

0.885

9.8E-24

CUI:	C1848486
Disease:	Premature arteriosclerosis

Premature arteriosclerosis

disease

0.100

None

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

low density lipoprotein receptor

0.449

0.885

9.8E-24

CUI:	C4021796
Disease:	Renal steatosis

Renal steatosis

disease

0.100

None

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

low density lipoprotein receptor

0.449

0.885

9.8E-24

CUI:	C0013404
Disease:	Dyspnea

Dyspnea

phenotype

0.100

None

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

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