Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C3151201
Disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME 		0.780 Biomarker GENOMICS_ENGLAND Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes. 26888179

2016
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C3151201
Disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME 		0.780 GermlineCausalMutation ORPHANET De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 20734336

2010
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C3151201
Disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME 		0.780 GeneticVariation UNIPROT De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 20734336

2010
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C3151201
Disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME 		0.780 Biomarker GENOMICS_ENGLAND Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018

2007
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C3151201
Disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME 		0.780 Biomarker GENOMICS_ENGLAND

Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.700 Biomarker GENOMICS_ENGLAND Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes. 26888179

2016
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C3279690
Disease: MOYAMOYA DISEASE 5
MOYAMOYA DISEASE 5 		0.700 Biomarker GENOMICS_ENGLAND Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes. 26888179

2016
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C3279690
Disease: MOYAMOYA DISEASE 5
MOYAMOYA DISEASE 5 		0.700 GeneticVariation UNIPROT Analysis of ACTA2 in European Moyamoya disease patients. 20970362

2011
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.700 Biomarker GENOMICS_ENGLAND De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 20734336

2010
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C3279690
Disease: MOYAMOYA DISEASE 5
MOYAMOYA DISEASE 5 		0.700 Biomarker GENOMICS_ENGLAND De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 20734336

2010
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.700 GeneticVariation UNIPROT Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). 19639654

2009
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.700 GeneticVariation UNIPROT Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 19409525

2009
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.700 Biomarker GENOMICS_ENGLAND Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018

2007
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.700 GeneticVariation UNIPROT Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018

2007
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C3279690
Disease: MOYAMOYA DISEASE 5
MOYAMOYA DISEASE 5 		0.700 Biomarker GENOMICS_ENGLAND Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018

2007
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.700 Biomarker CTD_human

Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C3279690
Disease: MOYAMOYA DISEASE 5
MOYAMOYA DISEASE 5 		0.700 Biomarker CTD_human

Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker CLINGEN Severe Molecular Defects Exhibited by the R179H Mutation in Human Vascular Smooth Muscle α-Actin. 27551047

2016
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker CLINGEN Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin. 26153420

2015
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.600 SusceptibilityMutation ORPHANET Further combined analysis of ACTA2 and other, possibly causative, genes in larger cohorts of MMD and other vascular diseases may identify possible common disease-causing mechanisms. 20970362

2011
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker CLINGEN Clinical, pathological, and genetic analysis of a Korean family with thoracic aortic aneurysms and dissections carrying a novel Asp26Tyr mutation. 20689142

2010
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.600 SusceptibilityMutation ORPHANET Linkage analysis and association studies of individuals in 20 families with ACTA2 mutations indicate that mutation carriers can have a diversity of vascular diseases, including premature onset of coronary artery disease (CAD) and premature ischemic strokes (including Moyamoya disease [MMD]), as well as previously defined TAAD. 19409525

2009
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker CLINGEN Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). 19639654

2009
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker CLINGEN Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 19409525

2009
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker CLINGEN Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018

2007