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

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

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

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:

rs121434528

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:

rs397516685

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:

rs1057521105

ACTA2 ; STAMBPL1

0.700

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:

rs1554841298

ACTA2 ; STAMBPL1

0.700

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:

rs777832794

ACTA2 ; STAMBPL1 ; ACTA2-AS1

0.700

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:

rs886039303

ACTA2 ; STAMBPL1

0.700

CausalMutation

CLINVAR

Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings.

27567161

2017

dbSNP:

rs112901682

ACTA2 ; STAMBPL1

0.700

GeneticVariation

CLINVAR

Genetic testing of 248 Chinese aortopathy patients using a panel assay.

27611364

2016

dbSNP:

rs886039303

ACTA2 ; STAMBPL1

0.700

CausalMutation

CLINVAR

Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.

27481187

2016

dbSNP:

rs112602953

ACTA2 ; STAMBPL1

0.800

CausalMutation

CLINVAR

Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.

25759435

2015

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:

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

CausalMutation

CLINVAR

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

25644172

2015

dbSNP:

rs121434526

ACTA2 ; STAMBPL1

0.800

CausalMutation

CLINVAR

Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections.

24020716

2015

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:

rs121434528

ACTA2 ; STAMBPL1 ; ACTA2-AS1

0.800

CausalMutation

CLINVAR

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

25644172

2015

dbSNP:

rs121434528

ACTA2 ; STAMBPL1 ; ACTA2-AS1

0.800

CausalMutation

CLINVAR

Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin.

26153420

2015

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

dbSNP:

rs397516685

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:

rs1057521105

ACTA2 ; STAMBPL1

0.700

GeneticVariation

UNIPROT

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

25356965

2015

dbSNP:

rs112901682

ACTA2 ; STAMBPL1

0.700

CausalMutation

CLINVAR

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

25644172

2015

dbSNP:

rs112901682

ACTA2 ; STAMBPL1

0.700

GeneticVariation

CLINVAR

Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.

25759435

2015

dbSNP:

rs112901682

ACTA2 ; STAMBPL1

0.700

GeneticVariation

CLINVAR

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

25644172

2015