Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2 		0.600 Biomarker disease GENOMICS_ENGLAND A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3. 29392890 2018
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2 		0.600 Biomarker disease GENOMICS_ENGLAND TGF-β-Smad3 signaling in emphysema and pulmonary fibrosis: an epigenetic aberration of normal development? 23161884 2013
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2 		0.600 Biomarker disease GENOMICS_ENGLAND TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. 22772371 2012
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2 		0.600 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. 22772368 2012
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2 		0.600 GeneticVariation disease UNIPROT Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. 22772368 2012
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2 		0.600 GeneticVariation disease UNIPROT TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. 22772371 2012
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2 		0.600 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2 		0.600 CausalMutation disease CLINVAR
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2 		0.600 GeneticVariation disease CLINVAR
Entrez Id: 112752
Gene Symbol: IFT43
IFT43 		0.100 GeneticVariation disease CLINVAR Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 25835445 2015
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3 		0.100 CausalMutation disease CLINVAR Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 25835445 2015
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3 		0.100 GeneticVariation disease CLINVAR Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 25835445 2015
Entrez Id: 112752
Gene Symbol: IFT43
IFT43 		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
Entrez Id: 112752
Gene Symbol: IFT43
IFT43 		0.100 CausalMutation disease CLINVAR Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 25835445 2015
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3 		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
Entrez Id: 112752
Gene Symbol: IFT43
IFT43 		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
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3 		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
Entrez Id: 112752
Gene Symbol: IFT43
IFT43 		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
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3 		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
Entrez Id: 112752
Gene Symbol: IFT43
IFT43 		0.100 GeneticVariation disease CLINVAR TGF-β - an excellent servant but a bad master. 22943793 2012
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3 		0.100 GeneticVariation disease CLINVAR TGF-β - an excellent servant but a bad master. 22943793 2012
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3 		0.100 GeneticVariation disease CLINVAR Crystal structure of transforming growth factor-beta 2: an unusual fold for the superfamily. 1631557 1992
Entrez Id: 112752
Gene Symbol: IFT43
IFT43 		0.100 GeneticVariation disease CLINVAR Crystal structure of transforming growth factor-beta 2: an unusual fold for the superfamily. 1631557 1992