Disease: Dissection of aorta ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		0.410 GeneticVariation disease BEFREE Patients harboring a TGFBR1 mutation have similar survival rates (80% survival at 60 years), aortic risk (23% aortic dissection and 18% preventive aortic surgery), and prevalence of extra-aortic features (29% hypertelorism, 53% cervical arterial tortuosity, and 27% wide scars) when compared with patients harboring a TGFBR2 mutation. 27879313 2016
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		0.410 Biomarker disease CTD_human Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. 22772368 2012
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		0.410 Biomarker disease HPO