Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
0.030 GeneticVariation disease BEFREE This study examined 23 children (group 1), aged 4-13 years, with different HCTDs (i.e., 19 with hypermobile Ehlers-Danlos syndrome (EDS)/hypermobility spectrum disorder, 3 with molecularly confirmed classical EDS, and 1 with Loeys-Dietz syndrome type 1 due to TGFBR2 mutation) and 23, age- and sex-matched children with DCD (group 2). 30070022 2018
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
0.030 GeneticVariation disease BEFREE Aortic dilatation/dissection (AD) can occur spontaneously or in association with genetic syndromes, such as Marfan syndrome (MFS; caused by FBN1 mutations), MFS type 2 and Loeys-Dietz syndrome (associated with TGFBR1/TGFBR2 mutations), and Ehlers-Danlos syndrome (EDS) vascular type (caused by COL3A1 mutations). 20648054 2010
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
0.030 GeneticVariation disease BEFREE We found a mutation in TGFBR1 or TGFBR2 in all probands with typical Loeys-Dietz syndrome (type I) and in 12 probands presenting with vascular Ehlers-Danlos syndrome (Loeys-Dietz syndrome type II). 16928994 2006