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 CausalMutation 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 CausalMutation CLINVAR Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. 26184463 2015
LOEYS-DIETZ SYNDROME 4
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
0.700 CausalMutation CLINVAR De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features. 24798638 2014
RIENHOFF SYNDROME
CUI: C3810012
Disease: RIENHOFF SYNDROME
0.700 CausalMutation CLINVAR