Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 57559
Gene Symbol: STAMBPL1
STAMBPL1 		STAM binding protein like 1 0.729 0.462 1.2E-14
CUI: C1846837
Disease: Aortic Aneurysm, Familial Thoracic 2
Aortic Aneurysm, Familial Thoracic 2 		disease 0.100 None 0 1
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C1846837
Disease: Aortic Aneurysm, Familial Thoracic 2
Aortic Aneurysm, Familial Thoracic 2 		disease 0.100 None 0 1