Gene: MYH11 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		0.600 GeneticVariation disease CLINVAR Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. 30675029 2019
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		0.600 Biomarker disease CLINGEN Myh11(R247C/R247C) mutations increase thoracic aorta vulnerability to intramural damage despite a general biomechanical adaptivity. 25433566 2015
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		0.600 Biomarker disease CLINGEN A deletion mutation in myosin heavy chain 11 causing familial thoracic aortic dissection in two Japanese pedigrees. 26056961 2015
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		0.600 Biomarker disease CLINGEN A deleterious MYH11 mutation causing familial thoracic aortic dissection. 27081537 2015
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		0.600 Biomarker disease CLINGEN Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus. 22968129 2013
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		0.600 Biomarker disease CLINGEN Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. 21937134 2013
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		0.600 Biomarker disease CLINGEN TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transduction. 23099432 2012
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		0.600 Biomarker disease CLINGEN Rare, nonsynonymous variant in the smooth muscle-specific isoform of myosin heavy chain, MYH11, R247C, alters force generation in the aorta and phenotype of smooth muscle cells. 22511748 2012
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		0.600 Biomarker disease CLINGEN 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 		0.600 Biomarker disease CLINGEN 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 		0.600 Biomarker disease CLINGEN Mapping of familial thoracic aortic aneurysm/dissection with patent ductus arteriosus to 16p12.2-p13.13. 15998682 2005
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		0.600 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		0.600 CausalMutation disease CLINVAR