SMAD3, SMAD family member 3, 4088

N. diseases: 470; N. variants: 95
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.760 Biomarker disease GENOMICS_ENGLAND A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3. 29392890 2018
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.760 GeneticVariation disease BEFREE A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome. 26221609 2015
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.760 Biomarker disease BEFREE SMAD3 is subject to cis-acting regulatory polymorphism in the tissues of relevance to both primary osteoarthritis and the aneurysms-osteoarthritis syndrome. 24583347 2014
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.760 Biomarker disease GENOMICS_ENGLAND TGF-β-Smad3 signaling in emphysema and pulmonary fibrosis: an epigenetic aberration of normal development? 23161884 2013
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.760 Biomarker disease CLINGEN Ninety percent of the patients carrying distinct SMAD3 mutations develop aortic aneurysms and dissections, called aneurysms-osteoarthritis syndrome (AOS). 23782924 2013
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.760 GeneticVariation disease BEFREE Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype. 23554019 2013
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.760 Biomarker disease BEFREE This finding demonstrates that haploinsufficiency of SMAD3 leads to development of both thoracic aortic aneurysms and dissections, and the skeletal abnormalities that form part of the aneurysms-osteoarthritis syndrome. 22803640 2013
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.760 GeneticVariation disease BEFREE Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. 22167769 2012
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.760 Biomarker disease GENOMICS_ENGLAND Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. 22167769 2012
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.760 GermlineCausalMutation disease ORPHANET Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. 22167769 2012
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.760 Biomarker disease CLINGEN Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. 22167769 2012
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.760 Biomarker disease CLINGEN Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. 21217753 2011
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.760 GeneticVariation disease UNIPROT SMAD3 mutations were recently described in patients with aneurysms osteoarthritis syndrome and some of the features of this syndrome were identified in individuals in our cohort, but these features were notably absent in many SMAD3 mutation carriers. 21778426 2011
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.760 GeneticVariation disease UNIPROT Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. 21217753 2011
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.760 Biomarker disease GENOMICS_ENGLAND Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. 21217753 2011
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.760 GeneticVariation disease BEFREE SMAD3 mutations were recently described in patients with aneurysms osteoarthritis syndrome and some of the features of this syndrome were identified in individuals in our cohort, but these features were notably absent in many SMAD3 mutation carriers. 21778426 2011
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.760 Biomarker disease CLINGEN SMAD3 mutations were recently described in patients with aneurysms osteoarthritis syndrome and some of the features of this syndrome were identified in individuals in our cohort, but these features were notably absent in many SMAD3 mutation carriers. 21778426 2011
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.760 Biomarker disease CLINGEN Transforming growth factor-beta and fibrosis. 17589920 2007
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.760 Biomarker disease GENOMICS_ENGLAND TGF-beta/Smad3 signals repress chondrocyte hypertrophic differentiation and are required for maintaining articular cartilage. 11285272 2001
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.760 Biomarker disease CLINGEN TGF-beta/Smad3 signals repress chondrocyte hypertrophic differentiation and are required for maintaining articular cartilage. 11285272 2001
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.760 CausalMutation disease CLINVAR
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.760 Biomarker disease GENOMICS_ENGLAND
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.760 GeneticVariation disease CLINVAR