DisGeNET - a database of gene-disease associations

PCSK9, proprotein convertase subtilisin/kexin type 9, 255738

N. diseases: 257; N. variants: 92

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:

rs11591147

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

30670697

2019

dbSNP:

rs11591147

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs11591147

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs11591147

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

30698716

2019

dbSNP:

rs11591147

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

30926973

2019

dbSNP:

rs11806638

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs11806638

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs17111503

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs2479409

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

30926973

2019

dbSNP:

rs2495477

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs2495477

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs11591147

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

dbSNP:

rs11591147

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

dbSNP:

rs11591147

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

30275531

2018

dbSNP:

rs11591147

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

30275531

2018

dbSNP:

rs17111503

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

dbSNP:

rs17111503

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

dbSNP:

rs2479409

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

dbSNP:

rs2479409

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

dbSNP:

rs2495477

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

dbSNP:

rs2495477

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

dbSNP:

rs11591147

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

28270201

2017

dbSNP:

rs2479409

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

28334899

2017

dbSNP:

rs2479409

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

28334899

2017

dbSNP:

rs28942112

Entrez Id:	255738
Gene Symbol:	PCSK9

PCSK9

CUI:	C1863551
Disease:

HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3

0.800

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017