TGFB3, transforming growth factor beta 3, 7043

N. diseases: 230; N. variants: 22
Disease: LOEYS-DIETZ SYNDROME 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
LOEYS-DIETZ SYNDROME 4 		0.100 CausalMutation disease CLINVAR Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 25835445 2015
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
LOEYS-DIETZ SYNDROME 4 		0.100 GeneticVariation disease CLINVAR Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 25835445 2015
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
LOEYS-DIETZ SYNDROME 4 		0.100 CausalMutation disease CLINVAR Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. 26184463 2015
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
LOEYS-DIETZ SYNDROME 4 		0.100 CausalMutation disease CLINVAR De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features. 24798638 2014
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
LOEYS-DIETZ SYNDROME 4 		0.100 GeneticVariation disease 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
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
LOEYS-DIETZ SYNDROME 4 		0.100 GeneticVariation disease CLINVAR TGF-β - an excellent servant but a bad master. 22943793 2012
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
LOEYS-DIETZ SYNDROME 4 		0.100 GeneticVariation disease CLINVAR Crystal structure of transforming growth factor-beta 2: an unusual fold for the superfamily. 1631557 1992