DisGeNET - a database of gene-disease associations

Source: GWASDB

Disease: Red Blood Cell Count measurement ×

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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:	10767
Gene Symbol:	HBS1L

HBS1L

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

22560525

2012

Entrez Id:	4149
Gene Symbol:	MAX

MAX

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

Entrez Id:	8366
Gene Symbol:	H4C2

H4C2

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

Entrez Id:	5581
Gene Symbol:	PRKCE

PRKCE

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

Entrez Id:	55604
Gene Symbol:	CARMIL1

CARMIL1

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

Entrez Id:	3098
Gene Symbol:	HK1

HK1

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

Entrez Id:	283450
Gene Symbol:	HECTD4

HECTD4

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

Entrez Id:	4602
Gene Symbol:	MYB

MYB

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

Entrez Id:	91289
Gene Symbol:	LMF2

LMF2

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

Entrez Id:	6568
Gene Symbol:	SLC17A1

SLC17A1

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

Entrez Id:	79692
Gene Symbol:	ZNF322

ZNF322

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

Entrez Id:	9997
Gene Symbol:	SCO2

SCO2

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

Entrez Id:	53335
Gene Symbol:	BCL11A

BCL11A

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

Entrez Id:	339669
Gene Symbol:	TEX33

TEX33

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

Entrez Id:	3077
Gene Symbol:	HFE

HFE

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

Entrez Id:	10171
Gene Symbol:	RCL1

RCL1

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

Entrez Id:	7037
Gene Symbol:	TFRC

TFRC

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

Entrez Id:	10019
Gene Symbol:	SH2B3

SH2B3

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

Entrez Id:	83546
Gene Symbol:	RTBDN

RTBDN

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

Entrez Id:	22983
Gene Symbol:	MAST1

MAST1

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

Entrez Id:	9477
Gene Symbol:	MED20

MED20

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

Entrez Id:	29911
Gene Symbol:	HOOK2

HOOK2

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

Entrez Id:	2193
Gene Symbol:	FARSA

FARSA

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

Entrez Id:	164656
Gene Symbol:	TMPRSS6

TMPRSS6

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

Entrez Id:	25862
Gene Symbol:	USP49

USP49

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009