DisGeNET - a database of gene-disease associations

LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434

Disease: Serum LDL cholesterol measurement ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs17249141

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

23726366

2013

dbSNP:

rs6511720

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Discovery and refinement of loci associated with lipid levels.

24097068

2013

dbSNP:

rs6511720

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study.

23100282

2013

dbSNP:

rs17242787

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

22629316

2012

dbSNP:

rs17242787

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.

23236364

2012

dbSNP:

rs17248720

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.

23236364

2012

dbSNP:

rs17248720

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs2228671

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs2569559

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs2738446

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs2738450

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs2738452

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs4804144

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs5742911

Entrez Id:	3949;147841
Gene Symbol:	LDLR;SPC24

LDLR;SPC24

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs5925

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs5930

Entrez Id:	3949;102465534
Gene Symbol:	LDLR;MIR6886

LDLR;MIR6886

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs6413504

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs6511720

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

22629316

2012

dbSNP:

rs6511720

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.

23236364

2012

dbSNP:

rs6511720

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs6511721

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs688

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

22629316

2012

dbSNP:

rs688

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs8102912

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs8110695

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012