DisGeNET - a database of gene-disease associations

Source: GWASCAT

Disease: Platelet Count measurement ×

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:

rs1034566

ARVCF

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

New gene functions in megakaryopoiesis and platelet formation.

22139419

2011

dbSNP:

rs10512472

SLFN14

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

New gene functions in megakaryopoiesis and platelet formation.

22139419

2011

dbSNP:

rs10761731

JMJD1C

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs10761731

JMJD1C

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans.

26805783

2016

dbSNP:

rs10761731

JMJD1C

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

New gene functions in megakaryopoiesis and platelet formation.

22139419

2011

dbSNP:

rs10914144

DNM3

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

New gene functions in megakaryopoiesis and platelet formation.

22139419

2011

dbSNP:

rs11082304

CABLES1

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs11082304

CABLES1

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

29403010

2018

dbSNP:

rs11082304

CABLES1

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs11082304

CABLES1

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

New gene functions in megakaryopoiesis and platelet formation.

22139419

2011

dbSNP:

rs11602954

BET1L

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs11602954

BET1L

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.

24026423

2014

dbSNP:

rs11628318

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

New gene functions in megakaryopoiesis and platelet formation.

22139419

2011

dbSNP:

rs11789898

BRD3

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

New gene functions in megakaryopoiesis and platelet formation.

22139419

2011

dbSNP:

rs1260326

GCKR

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

29403010

2018

dbSNP:

rs1260326

GCKR

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs1260326

GCKR

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

New gene functions in megakaryopoiesis and platelet formation.

22139419

2011

dbSNP:

rs13300663

RCL1

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

New gene functions in megakaryopoiesis and platelet formation.

22139419

2011

dbSNP:

rs1354034

ARHGEF3

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs1354034

ARHGEF3

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

29403010

2018

dbSNP:

rs1354034

ARHGEF3

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

2SNP heritability and effects of genetic variants for neutrophil-to-lymphocyte and platelet-to-lymphocyte ratio.

29066854

2017

dbSNP:

rs1354034

ARHGEF3

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans.

26805783

2016

dbSNP:

rs1354034

ARHGEF3

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs1354034

ARHGEF3

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.

24026423

2014

dbSNP:

rs1354034

ARHGEF3

CUI:	C0032181
Disease:	Platelet Count measurement

Platelet Count measurement

0.800

GeneticVariation

GWASCAT

GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.

23263863

2013