DisGeNET - a database of gene-disease associations

Source: GWASDB

Disease: Serum LDL cholesterol measurement ×

Gene: PCSK9 ×

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:

rs11591147

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

18193044

2008

dbSNP:

rs2479409

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Biological, clinical and population relevance of 95 loci for blood lipids.

20686565

2010

dbSNP:

rs11591147

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Common and low-frequency genetic variants in the PCSK9 locus influence circulating PCSK9 levels.

22460556

2012

dbSNP:

rs505151

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

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

22629316

2012

dbSNP:

rs499883

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

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

22629316

2012

dbSNP:

rs11806638

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

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

22629316

2012

dbSNP:

rs11591147

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

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

22629316

2012

dbSNP:

rs7525407

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

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

23063622

2012

dbSNP:

rs644000

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

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

23063622

2012

dbSNP:

rs643257

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

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

23063622

2012

dbSNP:

rs634272

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

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

23063622

2012

dbSNP:

rs631220

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

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

23063622

2012

dbSNP:

rs565436

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

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

23063622

2012

dbSNP:

rs562556

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

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

23063622

2012

dbSNP:

rs557435

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

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

23063622

2012

dbSNP:

rs533375

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

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

23063622

2012

dbSNP:

rs499883

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

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

23063622

2012

dbSNP:

rs471705

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

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

23063622

2012

dbSNP:

rs2495477

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

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

23063622

2012

dbSNP:

rs2479413

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

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

23063622

2012

dbSNP:

rs2479410

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

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

23063622

2012

dbSNP:

rs2479409

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

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

23063622

2012

dbSNP:

rs17111503

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

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

23063622

2012

dbSNP:

rs1165287

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

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

23063622

2012

dbSNP:

rs11591147

PCSK9

CUI:	C0428474
Disease:	Serum LDL cholesterol measurement

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

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

23063622

2012