Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931058
Disease: Marfan Syndrome type 2
Marfan Syndrome type 2
0.350 GeneticVariation disease BEFREE To date, over 70 mutations in the TGFBR2 gene have been reported in patients with Loeys-Dietz syndrome (LDS), Marfan syndrome type 2 (MFS2), or other hereditary thoracic aortic aneurysms and dissections. 21567932 2011
CUI: C2931058
Disease: Marfan Syndrome type 2
Marfan Syndrome type 2
0.350 GeneticVariation disease BEFREE Mutations in the gene encoding transforming growth factor-beta receptor type II (TGFBR2) have been described in patients with Loeys-Dietz syndrome (LDS), Marfan syndrome type 2 (MFS2) and familial thoracic aortic aneurysms and dissections (TAAD). 21098638 2011
CUI: C2931058
Disease: Marfan Syndrome type 2
Marfan Syndrome type 2
0.350 GeneticVariation disease BEFREE In addition, dominant TGFBR2 mutations have been identified in Marfan syndrome type 2 (MFS2) and familial thoracic aortic aneurysms and dissections (TAAD). 16791849 2006
CUI: C2931058
Disease: Marfan Syndrome type 2
Marfan Syndrome type 2
0.350 GeneticVariation disease BEFREE A second type of the disorder (Marfan syndrome type 2; OMIM 154705) is associated with a second locus, MFS2, at 3p25-p24.2 in a large French family (family MS1). 15235604 2004
CUI: C2931058
Disease: Marfan Syndrome type 2
Marfan Syndrome type 2
0.350 GeneticVariation disease BEFREE Fibulin-2 (FBLN2) is a new extracellular matrix protein that has been considered a candidate gene for Marfan syndrome type 2 (locus MFS2) based on chromosomal colocation at 3p24.2-p25 and disease phenotype. 8946175 1997
CUI: C2931058
Disease: Marfan Syndrome type 2
Marfan Syndrome type 2
0.350 GermlineCausalMutation disease ORPHANET