DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: Aortic Diseases ×

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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:	1281
Gene Symbol:	COL3A1

COL3A1

collagen type III alpha 1 chain

0.477

0.808

1.00

CUI:	C0003493
Disease:	Aortic Diseases

Aortic Diseases

group

0.010

None

1.000

0

2014

2014

Entrez Id:	1287
Gene Symbol:	COL4A5

COL4A5

collagen type IV alpha 5 chain

0.553

0.654

1.00

CUI:	C0003493
Disease:	Aortic Diseases

Aortic Diseases

group

0.010

None

1.000

0

2010

2010

Entrez Id:	1675
Gene Symbol:	CFD

CFD

complement factor D

0.587

0.731

6.7E-06

CUI:	C0003493
Disease:	Aortic Diseases

Aortic Diseases

group

0.010

None

1.000

0

2018

2018

Entrez Id:	2301
Gene Symbol:	FOXE3

FOXE3

forkhead box E3

0.568

0.654

0.18

CUI:	C0003493
Disease:	Aortic Diseases

Aortic Diseases

group

0.010

None

1.000

0

2016

2016

Entrez Id:	3371
Gene Symbol:	TNC

TNC

tenascin C

0.433

0.846

1.3E-07

CUI:	C0003493
Disease:	Aortic Diseases

Aortic Diseases

group

0.010

None

1.000

0

2019

2019

Entrez Id:	4054
Gene Symbol:	LTBP3

LTBP3

latent transforming growth factor beta binding protein 3

0.564

0.846

0.69

CUI:	C0003493
Disease:	Aortic Diseases

Aortic Diseases

group

0.010

None

1.000

0

2018

2018

Entrez Id:	4144
Gene Symbol:	MAT2A

MAT2A

methionine adenosyltransferase 2A

0.615

0.654

1.00

CUI:	C0003493
Disease:	Aortic Diseases

Aortic Diseases

group

0.010

None

1.000

0

2015

2015

Entrez Id:	4162
Gene Symbol:	MCAM

MCAM

melanoma cell adhesion molecule

0.514

0.731

1.6E-04

CUI:	C0003493
Disease:	Aortic Diseases

Aortic Diseases

group

0.010

None

1.000

0

2015

2015

Entrez Id:	4982
Gene Symbol:	TNFRSF11B

TNFRSF11B

TNF receptor superfamily member 11b

0.422

0.808

0.16

CUI:	C0003493
Disease:	Aortic Diseases

Aortic Diseases

group

0.010

None

1.000

0

2017

2017

Entrez Id:	54873
Gene Symbol:	PALMD

PALMD

palmdelphin

0.931

0.115

3.4E-04

CUI:	C0003493
Disease:	Aortic Diseases

Aortic Diseases

group

0.010

None

1.000

0

2019

2019

Entrez Id:	9791
Gene Symbol:	PTDSS1

PTDSS1

phosphatidylserine synthase 1

0.610

0.615

0.15

CUI:	C0003493
Disease:	Aortic Diseases

Aortic Diseases

group

0.010

None

1.000

0

2018

2018