DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Acrocyanosis ×

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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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	10019
Gene Symbol:	SH2B3

SH2B3

SH2B adaptor protein 3

0.527

0.692

1.0E-04

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.100

None

Entrez Id:	4598
Gene Symbol:	MVK

MVK

mevalonate kinase

0.576

0.731

0.17

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.100

None

Entrez Id:	4625
Gene Symbol:	MYH7

MYH7

myosin heavy chain 7

0.516

0.692

4.2E-16

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.100

None

Entrez Id:	5077
Gene Symbol:	PAX3

PAX3

paired box 3

0.481

0.769

0.24

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.100

None

Entrez Id:	6197
Gene Symbol:	RPS6KA3

RPS6KA3

ribosomal protein S6 kinase A3

0.491

0.846

1.00

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.100

None

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

interferon induced with helicase C domain 1

0.471

0.808

7.0E-44

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.100

None

Entrez Id:	6925
Gene Symbol:	TCF4

TCF4

transcription factor 4

0.464

0.846

1.00

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.100

None

Entrez Id:	7066
Gene Symbol:	THPO

THPO

thrombopoietin

0.513

0.692

0.20

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.100

None

Entrez Id:	79621
Gene Symbol:	RNASEH2B

RNASEH2B

ribonuclease H2 subunit B

0.595

0.615

3.3E-09

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.100

None

Entrez Id:	811
Gene Symbol:	CALR

CALR

calreticulin

0.413

0.923

0.89

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.100

None

Entrez Id:	84153
Gene Symbol:	RNASEH2C

RNASEH2C

ribonuclease H2 subunit C

0.590

0.731

5.5E-03

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.100

None

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

methyl-CpG binding protein 2

0.414

0.846

0.89

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.100

None

Entrez Id:	25939
Gene Symbol:	SAMHD1

SAMHD1

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

0.547

0.769

6.5E-13

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.100

None

Entrez Id:	103
Gene Symbol:	ADAR

ADAR

adenosine deaminase RNA specific

0.501

0.808

2.6E-02

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.100

None

Entrez Id:	10535
Gene Symbol:	RNASEH2A

RNASEH2A

ribonuclease H2 subunit A

0.592

0.692

4.2E-03

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.100

None

Entrez Id:	10801
Gene Symbol:	SEPTIN9

SEPTIN9

septin 9

0.548

0.769

1.00

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.100

None

Entrez Id:	11277
Gene Symbol:	TREX1

TREX1

three prime repair exonuclease 1

0.517

0.808

0.58

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.100

None

Entrez Id:	1277
Gene Symbol:	COL1A1

COL1A1

collagen type I alpha 1 chain

0.430

0.808

1.00

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.100

None

Entrez Id:	1289
Gene Symbol:	COL5A1

COL5A1

collagen type V alpha 1 chain

0.536

0.769

1.00

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.100

None

Entrez Id:	1290
Gene Symbol:	COL5A2

COL5A2

collagen type V alpha 2 chain

0.568

0.731

1.00

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.100

None

Entrez Id:	189
Gene Symbol:	AGXT

AGXT

alanine--glyoxylate and serine--pyruvate aminotransferase

0.593

0.731

1.2E-07

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.100

None

Entrez Id:	23474
Gene Symbol:	ETHE1

ETHE1

ETHE1 persulfide dioxygenase

0.686

0.346

4.6E-06

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.100

None

Entrez Id:	2517
Gene Symbol:	FUCA1

FUCA1

alpha-L-fucosidase 1

0.623

0.577

2.7E-08

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.100

None

Entrez Id:	8518
Gene Symbol:	ELP1

ELP1

elongator complex protein 1

0.579

0.769

2.1E-21

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.100

None

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

methylenetetrahydrofolate reductase

0.337

0.885

3.2E-10

CUI:	C0221347
Disease:	Acrocyanosis

Acrocyanosis

phenotype

0.010

None

1.000

2015