DisGeNET - a database of gene-disease associations

Aortic Aneurysm, Familial Thoracic 6, C2673186

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs112602953

ACTA2 ; STAMBPL1

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs112602953

ACTA2 ; STAMBPL1

0.800

GeneticVariation

UNIPROT

Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.

24882528

2014

dbSNP:

rs112602953

ACTA2 ; STAMBPL1

0.800

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017

dbSNP:

rs112602953

ACTA2 ; STAMBPL1

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs112602953

ACTA2 ; STAMBPL1

0.800

GeneticVariation

UNIPROT

2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).

25173340

2014

dbSNP:

rs121434526

ACTA2 ; STAMBPL1

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs121434526

ACTA2 ; STAMBPL1

0.800

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017

dbSNP:

rs121434526

ACTA2 ; STAMBPL1

0.800

GeneticVariation

UNIPROT

Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.

24882528

2014

dbSNP:

rs121434526

ACTA2 ; STAMBPL1

0.800

GeneticVariation

UNIPROT

Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).

19639654

2009

dbSNP:

rs121434526

ACTA2 ; STAMBPL1

0.800

GeneticVariation

UNIPROT

25173340

2014

dbSNP:

rs121434526

ACTA2 ; STAMBPL1

0.800

GeneticVariation

UNIPROT

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.

19409525

2009

dbSNP:

rs121434526

ACTA2 ; STAMBPL1

0.800

GeneticVariation

UNIPROT

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

17994018

2007

dbSNP:

rs121434526

ACTA2 ; STAMBPL1

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs121434527

ACTA2 ; STAMBPL1 ; ACTA2-AS1

0.800

GeneticVariation

UNIPROT

25173340

2014

dbSNP:

rs121434527

ACTA2 ; STAMBPL1 ; ACTA2-AS1

0.800

GeneticVariation

UNIPROT

Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.

24882528

2014

dbSNP:

rs121434527

ACTA2 ; STAMBPL1 ; ACTA2-AS1

0.800

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017

dbSNP:

rs121434527

ACTA2 ; STAMBPL1 ; ACTA2-AS1

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs121434527

ACTA2 ; STAMBPL1 ; ACTA2-AS1

0.800

GeneticVariation

UNIPROT

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.

19409525

2009

dbSNP:

rs121434527

ACTA2 ; STAMBPL1 ; ACTA2-AS1

0.800

GeneticVariation

UNIPROT

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

17994018

2007

dbSNP:

rs121434527

ACTA2 ; STAMBPL1 ; ACTA2-AS1

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs121434527

ACTA2 ; STAMBPL1 ; ACTA2-AS1

0.800

GeneticVariation

UNIPROT

Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).

19639654

2009

dbSNP:

rs121434528

ACTA2 ; STAMBPL1 ; ACTA2-AS1

0.800

GeneticVariation

UNIPROT

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.

19409525

2009

dbSNP:

rs121434528

ACTA2 ; STAMBPL1 ; ACTA2-AS1

0.800

GeneticVariation

UNIPROT

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

17994018

2007

dbSNP:

rs121434528

ACTA2 ; STAMBPL1 ; ACTA2-AS1

0.800

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs121434528

ACTA2 ; STAMBPL1 ; ACTA2-AS1

0.800

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015