DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Aortic Aneurysm, Abdominal ×

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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:	8076
Gene Symbol:	MFAP5

MFAP5

microfibril associated protein 5

0.590

0.615

5.1E-03

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.100

None

Entrez Id:	5592
Gene Symbol:	PRKG1

PRKG1

protein kinase cGMP-dependent 1

0.603

0.769

1.00

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.100

None

Entrez Id:	2301
Gene Symbol:	FOXE3

FOXE3

forkhead box E3

0.568

0.654

0.18

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.100

None

Entrez Id:	26191
Gene Symbol:	PTPN22

PTPN22

protein tyrosine phosphatase non-receptor type 22

0.438

0.846

3.5E-21

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.100

None

Entrez Id:	4144
Gene Symbol:	MAT2A

MAT2A

methionine adenosyltransferase 2A

0.615

0.654

1.00

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.100

None

Entrez Id:	286053
Gene Symbol:	NSMCE2

NSMCE2

NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase

0.682

0.615

3.8E-02

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.100

None

Entrez Id:	12
Gene Symbol:	SERPINA3

SERPINA3

serpin family A member 3

0.486

0.846

8.8E-14

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.010

None

< 0.001

2012

Entrez Id:	5465
Gene Symbol:	PPARA

PPARA

peroxisome proliferator activated receptor alpha

0.432

0.885

3.0E-02

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.010

None

< 0.001

2015

Entrez Id:	3339
Gene Symbol:	HSPG2

HSPG2

heparan sulfate proteoglycan 2

0.438

0.885

1.0E-19

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.010

None

< 0.001

2010

Entrez Id:	7305
Gene Symbol:	TYROBP

TYROBP

transmembrane immune signaling adaptor TYROBP

0.573

0.769

0.20

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.010

None

< 0.001

2015

Entrez Id:	410
Gene Symbol:	ARSA

ARSA

arylsulfatase A

0.448

0.923

1.1E-11

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.010

None

< 0.001

2017

Entrez Id:	368
Gene Symbol:	ABCC6

ABCC6

ATP binding cassette subfamily C member 6

0.540

0.654

5.6E-35

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.010

None

< 0.001

2005

Entrez Id:	2185
Gene Symbol:	PTK2B

PTK2B

protein tyrosine kinase 2 beta

0.448

0.808

0.94

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.010

None

< 0.001

2015

Entrez Id:	7450
Gene Symbol:	VWF

VWF

von Willebrand factor

0.408

0.885

3.2E-25

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.010

None

< 0.001

2018

Entrez Id:	7547
Gene Symbol:	ZIC3

ZIC3

Zic family member 3

0.587

0.423

0.92

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.010

None

< 0.001

2019

Entrez Id:	367
Gene Symbol:	AR

androgen receptor

0.351

0.846

0.99

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.040

None

0.500

2011

2017

Entrez Id:	5241
Gene Symbol:	PGR

PGR

progesterone receptor

0.426

0.885

5.1E-02

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.020

None

0.500

2004

2017

Entrez Id:	1462
Gene Symbol:	VCAN

VCAN

versican

0.497

0.808

1.00

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.020

None

0.500

2001

2010

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

fibulin 5

0.546

0.692

1.00

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.020

None

0.500

2010

2016

Entrez Id:	7852
Gene Symbol:	CXCR4

CXCR4

C-X-C motif chemokine receptor 4

0.362

0.923

1.8E-02

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.020

None

0.500

2014

2015

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

methylenetetrahydrofolate reductase

0.337

0.885

3.2E-10

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.100

None

0.600

2003

2017

Entrez Id:	6387
Gene Symbol:	CXCL12

CXCL12

C-X-C motif chemokine ligand 12

0.379

0.846

0.12

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.030

None

0.667

2014

2016

Entrez Id:	1361
Gene Symbol:	CPB2

CPB2

carboxypeptidase B2

0.536

0.846

2.7E-17

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.030

None

0.667

2014

2017

Entrez Id:	406988
Gene Symbol:	MIR205

MIR205

microRNA 205

0.482

0.846

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.030

None

0.667

2014

2019

Entrez Id:	4035
Gene Symbol:	LRP1

LRP1

LDL receptor related protein 1

0.482

0.769

1.00

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

disease

0.190

None

0.700

2011

2017