MYH11, myosin heavy chain 11, 4629

N. diseases: 161; N. variants: 25
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
0.130 Biomarker disease BEFREE We demonstrate a novel method to generate SMC-like cells from human dermal fibroblasts by transdifferentiation to study the effect of variants in genes encoding proteins of the SMC contractile apparatus (ACTA2 and MYH11) in patients with aortic aneurysms. 28074631 2017
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
0.130 Biomarker disease BEFREE Genetic variants associated with non-syndromic TAA (ACTA2 and MYH11) are related to the TGFβ pathway, strongly implicated in syndromic TAA, thus suggesting a common pathway between syndromic and non-syndromic TAA. 24842835 2014
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
0.130 GeneticVariation disease LHGDN MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. 17666408 2007
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
0.130 Biomarker disease HPO