Disease: Loeys-Dietz Aortic Aneurysm Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836635
Disease: Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Aortic Aneurysm Syndrome 		0.730 Biomarker disease CTD_human Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. 22772368 2012
CUI: C1836635
Disease: Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Aortic Aneurysm Syndrome 		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
CUI: C1836635
Disease: Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Aortic Aneurysm Syndrome 		0.730 Biomarker disease CTD_human Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome. 19006214 2008
CUI: C1836635
Disease: Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Aortic Aneurysm Syndrome 		0.730 Biomarker disease CTD_human A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation. 18084123 2007
CUI: C1836635
Disease: Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Aortic Aneurysm Syndrome 		0.730 GermlineCausalMutation disease ORPHANET Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994 2006
CUI: C1836635
Disease: Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Aortic Aneurysm Syndrome 		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
CUI: C1836635
Disease: Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Aortic Aneurysm Syndrome 		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
CUI: C1836635
Disease: Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Aortic Aneurysm Syndrome 		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
CUI: C1836635
Disease: Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Aortic Aneurysm Syndrome 		0.730 GermlineCausalMutation disease ORPHANET A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 15731757 2005
CUI: C1836635
Disease: Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Aortic Aneurysm Syndrome 		0.730 Biomarker disease CTD_human Heterozygous TGFBR2 mutations in Marfan syndrome. 15235604 2004
CUI: C1836635
Disease: Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Aortic Aneurysm Syndrome 		0.730 Biomarker disease MGD