DisGeNET - a database of gene-disease associations

Source: GWASCAT

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:	10320
Gene Symbol:	IKZF1

IKZF1

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	9315
Gene Symbol:	NREP

NREP

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	717
Gene Symbol:	C2

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	7036
Gene Symbol:	TFR2

TFR2

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	775
Gene Symbol:	CACNA1C

CACNA1C

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	5629
Gene Symbol:	PROX1

PROX1

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	8031
Gene Symbol:	NCOA4

NCOA4

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	220972
Gene Symbol:	MARCHF8

MARCHF8

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	5581
Gene Symbol:	PRKCE

PRKCE

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	6569
Gene Symbol:	SLC34A1

SLC34A1

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	84444
Gene Symbol:	DOT1L

DOT1L

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	284058
Gene Symbol:	KANSL1

KANSL1

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	51272
Gene Symbol:	BET1L

BET1L

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	1021
Gene Symbol:	CDK6

CDK6

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	23316
Gene Symbol:	CUX2

CUX2

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	256126
Gene Symbol:	SYCE2

SYCE2

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	472
Gene Symbol:	ATM

ATM

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	2639
Gene Symbol:	GCDH

GCDH

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	1589
Gene Symbol:	CYP21A2

CYP21A2

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	746
Gene Symbol:	TMEM258

TMEM258

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	2993
Gene Symbol:	GYPA

GYPA

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	7203
Gene Symbol:	CCT3

CCT3

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	745
Gene Symbol:	MYRF

MYRF

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	896
Gene Symbol:	CCND3

CCND3

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018

Entrez Id:	22983
Gene Symbol:	MAST1

MAST1

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.100

GeneticVariation

GWASCAT

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

29403010

2018