STAMBPL1, STAM binding protein like 1, 57559

N. diseases: 16; N. variants: 19
Disease: Aortic Aneurysm, Familial Thoracic 6 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434526
rs121434526
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		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
rs121434526
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		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
rs121434526
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		A 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
rs121434526
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		A 0.800 CausalMutation CLINVAR Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections. 24020716 2015
dbSNP: rs121434526
rs121434526
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528 2014
dbSNP: rs121434526
rs121434526
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		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
rs121434526
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs121434526
rs121434526
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		A 0.800 CausalMutation CLINVAR Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. 21248741 2011
dbSNP: rs121434526
rs121434526
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		A 0.800 CausalMutation CLINVAR Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2). 21212136 2011
dbSNP: rs121434526
rs121434526
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		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
rs121434526
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		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
rs121434526
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		A 0.800 CausalMutation CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 19409525 2009
dbSNP: rs121434526
rs121434526
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		0.800 GeneticVariation UNIPROT Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018 2007