Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4629
Gene Symbol: MYH11
MYH11
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases 		0.020 GeneticVariation BEFREE Similar reductions in force responses were obtained with tissues containing either a heterozygous or homozygous knockin mutation in smooth muscle myosin heavy chain (Myh11+/R247C or Myh11R247C/R247C mutations that cause human aortic disease) with no significant changes in RLC phosphorylation. 29494672

2018
Entrez Id: 4629
Gene Symbol: MYH11
MYH11
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases 		0.020 GeneticVariation BEFREE ACTA2 and MYH11 mutations are predicted or have been shown to disrupt this cyclic interaction predispose to thoracic aortic disease. 27879251

2017