Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
0.430 GeneticVariation disease BEFREE Loeys-Dietz syndrome (LDS, OMIM # 609192) caused by heterozygous mutations in TGFBR1 and TGFBR2 has recently been described as an important cause of familial aortic aneurysms. 20358619 2010
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
0.430 GeneticVariation disease BEFREE The transforming growth factor beta (TGF-beta) pathway regulates vascular remodeling and mutations in its receptor genes, TGFBR1 and TGFBR2, cause syndromes with thoracic aortic aneurysm (TAA). 19672284 2010
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
0.430 GeneticVariation disease LHGDN Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome. 16283890 2005
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
0.430 Biomarker disease CTD_human Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene. 16885183 2006
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
0.430 Biomarker disease HPO