Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
0.310 GeneticVariation disease BEFREE In familial AAA we found one pathogenic and segregating variant (COL3A1 p.Arg491X), one likely pathogenic and segregating (MYH11 p.Arg254Cys), and fifteen VUS. 26017485 2015
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
0.310 SusceptibilityMutation disease ORPHANET The role of type III collagen in the development of familial abdominal aortic aneurysms. 10388642 1999
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
0.310 SusceptibilityMutation disease ORPHANET A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms. 2243125 1990