Disease: LOEYS-DIETZ SYNDROME 4 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
LOEYS-DIETZ SYNDROME 4
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
0.700 GeneticVariation CLINVAR Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 25835445 2015
LOEYS-DIETZ SYNDROME 4
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
0.700 GeneticVariation CLINVAR A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. 23824657 2013
LOEYS-DIETZ SYNDROME 4
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
0.700 GeneticVariation CLINVAR TGF-β - an excellent servant but a bad master. 22943793 2012
LOEYS-DIETZ SYNDROME 4
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
0.700 GeneticVariation CLINVAR Crystal structure of transforming growth factor-beta 2: an unusual fold for the superfamily. 1631557 1992