Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4629
Gene Symbol: MYH11
MYH11
CUI: C1851504
Disease: Aortic aneurysm, familial thoracic 4
Aortic aneurysm, familial thoracic 4 		0.700 CausalMutation CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364

2016
Entrez Id: 4629
Gene Symbol: MYH11
MYH11
CUI: C1851504
Disease: Aortic aneurysm, familial thoracic 4
Aortic aneurysm, familial thoracic 4 		0.700 CausalMutation CLINVAR Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. 21937134

2013
Entrez Id: 4629
Gene Symbol: MYH11
MYH11
CUI: C1851504
Disease: Aortic aneurysm, familial thoracic 4
Aortic aneurysm, familial thoracic 4 		0.700 GeneticVariation CLINVAR MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. 17666408

2007
Entrez Id: 4629
Gene Symbol: MYH11
MYH11
CUI: C1851504
Disease: Aortic aneurysm, familial thoracic 4
Aortic aneurysm, familial thoracic 4 		0.700 GeneticVariation CLINVAR Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. 16444274

2006
Entrez Id: 4629
Gene Symbol: MYH11
MYH11
CUI: C1851504
Disease: Aortic aneurysm, familial thoracic 4
Aortic aneurysm, familial thoracic 4 		0.700 CausalMutation CLINVAR Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. 16444274

2006