Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR A Decade of Discovery in the Genetic Understanding of Thoracic Aortic Disease. 26724507

2016
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD). 24793577

2014
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Lessons on the pathogenesis of aneurysm from heritable conditions. 21593863

2011
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. 21098638

2010
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994

2006
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 15731757

2005