DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Corpuscular Hemoglobin Concentration Mean ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	272
Gene Symbol:	AMPD3

AMPD3

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASDB

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

23222517

2012

Entrez Id:	10393
Gene Symbol:	ANAPC10

ANAPC10

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASCAT

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

27863252

2016

Entrez Id:	286
Gene Symbol:	ANK1

ANK1

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASDB

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

23222517

2012

Entrez Id:	286
Gene Symbol:	ANK1

ANK1

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASCAT

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

27863252

2016

Entrez Id:	286
Gene Symbol:	ANK1

ANK1

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASCAT

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

28017375

2017

Entrez Id:	22852
Gene Symbol:	ANKRD26

ANKRD26

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASCAT

Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits.

31080455

2019

Entrez Id:	8943
Gene Symbol:	AP3D1

AP3D1

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASDB

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

23222517

2012

Entrez Id:	116519
Gene Symbol:	APOA5

APOA5

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	201176
Gene Symbol:	ARHGAP27

ARHGAP27

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASDB

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

23222517

2012

Entrez Id:	9828
Gene Symbol:	ARHGEF17

ARHGEF17

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASDB

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

23222517

2012

Entrez Id:	100506084
Gene Symbol:	ARL17B

ARL17B

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASDB

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

23222517

2012

Entrez Id:	84071
Gene Symbol:	ARMC2

ARMC2

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASDB

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

23222517

2012

Entrez Id:	253982
Gene Symbol:	ASPHD1

ASPHD1

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASDB

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

23222517

2012

Entrez Id:	467
Gene Symbol:	ATF3

ATF3

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASCAT

Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits.

31080455

2019

Entrez Id:	493
Gene Symbol:	ATP2B4

ATP2B4

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASDB

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

23222517

2012

Entrez Id:	493
Gene Symbol:	ATP2B4

ATP2B4

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASCAT

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

27863252

2016

Entrez Id:	493
Gene Symbol:	ATP2B4

ATP2B4

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASCAT

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

28017375

2017

Entrez Id:	493
Gene Symbol:	ATP2B4

ATP2B4

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASCAT

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

23263863

2013

Entrez Id:	545
Gene Symbol:	ATR

ATR

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASDB

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

23222517

2012

Entrez Id:	6311
Gene Symbol:	ATXN2

ATXN2

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASDB

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

23222517

2012

Entrez Id:	8312
Gene Symbol:	AXIN1

AXIN1

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASCAT

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

27863252

2016

Entrez Id:	80127
Gene Symbol:	BBOF1

BBOF1

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASDB

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

23222517

2012

Entrez Id:	55212
Gene Symbol:	BBS7

BBS7

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASDB

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

23222517

2012

Entrez Id:	53335
Gene Symbol:	BCL11A

BCL11A

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASDB

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

23222517

2012

Entrez Id:	598
Gene Symbol:	BCL2L1

BCL2L1

CUI:	C4528257
Disease:	Corpuscular Hemoglobin Concentration Mean

Corpuscular Hemoglobin Concentration Mean

0.100

GeneticVariation

GWASDB

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

23222517

2012