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 |
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 |
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 |
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 |
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 |
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 |
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 |
LOEYS-DIETZ SYNDROME 3
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.
|
22167769 |
2012 |
LOEYS-DIETZ SYNDROME 3
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.
|
22167769 |
2012 |
LOEYS-DIETZ SYNDROME 3
|
0.760 |
GermlineCausalMutation
|
disease |
ORPHANET |
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.
|
22167769 |
2012 |
LOEYS-DIETZ SYNDROME 3
|
0.760 |
Biomarker
|
disease |
CLINGEN |
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.
|
22167769 |
2012 |
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 |
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 |
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 |
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 |
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 |
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 |
LOEYS-DIETZ SYNDROME 3
|
0.760 |
Biomarker
|
disease |
CLINGEN |
Transforming growth factor-beta and fibrosis.
|
17589920 |
2007 |
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 |
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 |
LOEYS-DIETZ SYNDROME 3
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
LOEYS-DIETZ SYNDROME 3
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
LOEYS-DIETZ SYNDROME 3
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Colorectal Carcinoma
|
0.700 |
GeneticVariation
|
disease |
GWASCAT |
Discovery of common and rare genetic risk variants for colorectal cancer.
|
30510241 |
2019 |
Colorectal Carcinoma
|
0.700 |
Biomarker
|
disease |
CTD_human |
Discovery of common and rare genetic risk variants for colorectal cancer.
|
30510241 |
2019 |