Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases 		0.020 AlteredExpression BEFREE Finally, a mutation in the cGMP-activated protein kinase (PRKG1) results in constitutive activation of the kinase in the absence of cGMP, thus driving SMC relaxation in part through increased dephosphorylation of the regulatory light chain and predisposes to thoracic aortic disease. 27879251

2017
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases 		0.020 Biomarker BEFREE PRKG1 and genetic diagnosis of early-onset thoracic aortic disease. 27442293

2016