DisGeNET - a database of gene-disease associations

Source: ALL

Gene: SERPINE1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs1442033697

SERPINE1

101135780

frameshift variant

A/-

del

CUI:	C1269955
Disease:	Tumor Cell Invasion

Tumor Cell Invasion

0.010

1.000

2004

dbSNP:

rs2227700

SERPINE1

101138800

3 prime UTR variant

T/C

snv

1.2E-02

CUI:	C0202236
Disease:	Triglycerides measurement

Triglycerides measurement

0.700

1.000

2012

dbSNP:

rs3020623

SERPINE1

101129564

intron variant

G/A

snv

0.32

CUI:	C0005890
Disease:	Body Height

Body Height

0.700

1.000

2019

dbSNP:

rs3020623

SERPINE1

101129564

intron variant

G/A

snv

0.32

CUI:	C0014772
Disease:	Red Blood Cell Count measurement

Red Blood Cell Count measurement

0.700

1.000

2019

dbSNP:

rs1799762

SERPINE1

101126425

upstream gene variant

-/G

delins

CUI:	C4016325
Disease:	TRANSCRIPTION OF PLASMINOGEN ACTIVATOR INHIBITOR, MODULATOR OF

TRANSCRIPTION OF PLASMINOGEN ACTIVATOR INHIBITOR, MODULATOR OF

0.700

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.060

0.833

2006

2018

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0584960
Disease:	Factor V Leiden mutation

Factor V Leiden mutation

0.040

0.750

2006

2015

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C1861172
Disease:	Venous Thromboembolism

Venous Thromboembolism

0.030

1.000

2003

2012

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0398623
Disease:	Thrombophilia

Thrombophilia

0.030

1.000

2005

2009

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0032460
Disease:	Polycystic Ovary Syndrome

Polycystic Ovary Syndrome

0.030

0.667

2003

2014

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0007222
Disease:	Cardiovascular Diseases

Cardiovascular Diseases

0.030

1.000

2014

2019

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C3160845
Disease:	PAI-1 4G/5G polymorphism

PAI-1 4G/5G polymorphism

0.020

< 0.001

2011

2014

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0311370
Disease:	Lupus anticoagulant disorder

Lupus anticoagulant disorder

0.020

1.000

2005

2009

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0028754
Disease:	Obesity

Obesity

0.020

1.000

2014

2016

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0598608
Disease:	Hyperhomocysteinemia

Hyperhomocysteinemia

0.020

1.000

2007

2019

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C1956346
Disease:	Coronary Artery Disease

Coronary Artery Disease

0.020

0.500

2007

2017

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0035328
Disease:	Retinal Vein Occlusion

Retinal Vein Occlusion

0.020

0.500

2013

2015

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C3495426
Disease:	Homocysteinemia

Homocysteinemia

0.020

1.000

1997

2009

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0149871
Disease:	Deep Vein Thrombosis

Deep Vein Thrombosis

0.020

1.000

2005

2014

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0020538
Disease:	Hypertensive disease

Hypertensive disease

0.020

0.500

2014

2018

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0162871
Disease:	Aortic Aneurysm, Abdominal

Aortic Aneurysm, Abdominal

0.010

1.000

2003

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.010

1.000

2006

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0678222
Disease:	Breast Carcinoma

Breast Carcinoma

0.010

1.000

2013

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C0009324
Disease:	Ulcerative Colitis

Ulcerative Colitis

0.010

1.000

2003

dbSNP:

rs763351020

SERPINE1

0.633

0.560

101132046

missense variant

C/T

snv

4.0E-06

CUI:	C4552766
Disease:	Miscarriage

Miscarriage

0.010

1.000

2013