Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.730 | Biomarker | disease | CTD_human | Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. | 22772368 | 2012 | ||||
|
0.730 | Biomarker | disease | CTD_human | Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome. | 20358619 | 2010 | ||||
|
0.730 | Biomarker | disease | CTD_human | Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome. | 19006214 | 2008 | ||||
|
0.730 | Biomarker | disease | CTD_human | A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation. | 18084123 | 2007 | ||||
|
0.730 | GermlineCausalMutation | disease | ORPHANET | Aneurysm syndromes caused by mutations in the TGF-beta receptor. | 16928994 | 2006 | ||||
|
0.730 | Biomarker | disease | BEFREE | Reexamination of patients with a TGFBR1 or TGFBR2 mutation revealed extensive clinical overlap between patients with MFS1, MFS2, and LDS. | 16799921 | 2006 | ||||
|
0.730 | Biomarker | disease | BEFREE | Very recently, heterozygous mutations in the genes encoding transforming growth factor beta receptors I (TGFBR1) and II (TGFBR2) have been reported in Loeys-Dietz aortic aneurysm syndrome (LDS). | 16791849 | 2006 | ||||
|
0.730 | GeneticVariation | disease | BEFREE | (2004); Nat Genet 36:855-860] and of TGFBR1 and TGFBR2 mutations in Loeys-Dietz aortic aneurysm syndrome (LDS) [Loeys et al. | 16596670 | 2006 | ||||
|
0.730 | GermlineCausalMutation | disease | ORPHANET | A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. | 15731757 | 2005 | ||||
|
0.730 | Biomarker | disease | CTD_human | Heterozygous TGFBR2 mutations in Marfan syndrome. | 15235604 | 2004 | ||||
|
0.730 | Biomarker | disease | MGD |