DisGeNET - a database of gene-disease associations

Source: GWASCAT

Disease: Hemoglobin 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:

rs10224002

PRKAG2

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin measurement

0.800

GeneticVariation

GWASCAT

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

dbSNP:

rs10495928

PRKCE

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin measurement

0.800

GeneticVariation

GWASCAT

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

27863252

2016

dbSNP:

rs10495928

PRKCE

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin measurement

0.800

GeneticVariation

GWASCAT

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

dbSNP:

rs11065987

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin measurement

0.800

GeneticVariation

GWASCAT

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

dbSNP:

rs16926246

HK1

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin measurement

0.800

GeneticVariation

GWASCAT

Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

28017375

2017

dbSNP:

rs16926246

HK1

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin measurement

0.800

GeneticVariation

GWASCAT

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

dbSNP:

rs1799945

HFE ; LOC108783645

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin measurement

0.800

GeneticVariation

GWASCAT

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

27863252

2016

dbSNP:

rs1800562

HFE ; LOC108783645

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin measurement

0.800

GeneticVariation

GWASCAT

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

dbSNP:

rs198846

H1-6

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin measurement

0.800

GeneticVariation

GWASCAT

Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

28017375

2017

dbSNP:

rs198846

H1-6

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin measurement

0.800

GeneticVariation

GWASCAT

Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.

19820698

2009

dbSNP:

rs2413450

TMPRSS6

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin measurement

0.800

GeneticVariation

GWASCAT

Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

28017375

2017

dbSNP:

rs4820268

TMPRSS6

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin measurement

0.800

GeneticVariation

GWASCAT

Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

28017375

2017

dbSNP:

rs6013509

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin measurement

0.800

GeneticVariation

GWASCAT

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

dbSNP:

rs855791

TMPRSS6

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin measurement

0.800

GeneticVariation

GWASCAT

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

29403010

2018

dbSNP:

rs855791

TMPRSS6

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin measurement

0.800

GeneticVariation

GWASCAT

IDENTIFYING GENETIC ASSOCIATIONS WITH VARIABILITY IN METABOLIC HEALTH AND BLOOD COUNT LABORATORY VALUES: DIVING INTO THE QUANTITATIVE TRAITS BY LEVERAGING LONGITUDINAL DATA FROM AN EHR.

27897004

2017

dbSNP:

rs855791

TMPRSS6

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin measurement

0.800

GeneticVariation

GWASCAT

Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.

28453575

2017

dbSNP:

rs855791

TMPRSS6

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin 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

dbSNP:

rs855791

TMPRSS6

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin measurement

0.800

GeneticVariation

GWASCAT

Genome-wide association study of hematological and biochemical traits in a Japanese population.

20139978

2010

dbSNP:

rs855791

TMPRSS6

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin measurement

0.800

GeneticVariation

GWASCAT

Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.

19820698

2009

dbSNP:

rs855791

TMPRSS6

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin measurement

0.800

GeneticVariation

GWASCAT

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

dbSNP:

rs1010269

BCAS3

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin measurement

0.700

GeneticVariation

GWASCAT

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

27863252

2016

dbSNP:

rs10159477

HK1

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin measurement

0.700

GeneticVariation

GWASCAT

Seventy-five genetic loci influencing the human red blood cell.

23222517

2012

dbSNP:

rs10168349

PRKCE

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin measurement

0.700

GeneticVariation

GWASCAT

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

29403010

2018

dbSNP:

rs10224210

PRKAG2

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin measurement

0.700

GeneticVariation

GWASCAT

Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

28017375

2017

dbSNP:

rs1037814

AFF1

CUI:	C0518015
Disease:	Hemoglobin measurement

Hemoglobin measurement

0.700

GeneticVariation

GWASCAT

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

29403010

2018