COL3A1, collagen type III alpha 1 chain, 1281

N. diseases: 301; N. variants: 402
Disease: Aneurysm of ascending aorta ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		0.110 GeneticVariation phenotype BEFREE Mutations in COL3A1 have been identified to underlie this disease; however, to the best of our knowledge, no COL3A1 mutations have been reported in Ehlers-Danlos syndrome type IV patients with an ascending aortic aneurysm. 25776230 2015
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		0.110 Biomarker phenotype HPO