Disease: Marfan Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease BEFREE We searched for TGFBR1 and TGFBR2 mutations in 41 unrelated patients fulfilling the diagnostic criteria of Ghent nosology or with the tentative diagnosis of Marfan syndrome, in whom mutations in the FBN1 coding region were not identified. 16799921 2006
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 Biomarker disease BEFREE ATAA samples taken during aortic replacement from age-matched MFS (n=9) and non-MFS (n=18) patients were assessed for representative subtypes of all MMP classes, all 4 known TIMPs, and type 2 TGF-beta receptors (TGFBR2). 16820601 2006
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 Biomarker disease BEFREE Our data support the recently reported association between TGFBR2 gene and MFS without major ocular signs (MFS2). 16251899 2006
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 Biomarker disease LHGDN Three patients with either TGFBR1 or TGFBR2 abnormality did not fulfill the Ghent criteria, but expressed some overlapping features of MFS and Loeys-Dietz syndrome (LDS). 16835936 2006
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease BEFREE The recent identification of TGFBR2 mutations in Marfan syndrome II (MFSII) [Mizuguchi et al. 16596670 2006
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease BEFREE In order to evaluate the contribution of FBN1, FBN2, TGFBR1, and TGFBR2 mutations to the Marfan syndrome (MFS) phenotype, the four genes were analyzed by direct sequencing in 49 patients with MFS or suspected MFS as a cohort study. 16835936 2006
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease BEFREE This family provides further evidence that mutations in TGFbetaR2 cause a distinct syndrome that needs to be distinguished from Marfan syndrome to direct investigation and management of patients and shows the natural history, spectrum of clinical features and variable penetrance of this newly recognised condition. 16885183 2006
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease BEFREE We found TGFBR2 mutations in 4 unrelated families with familial TAAD who did not have Marfan syndrome. 16027248 2005
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease LHGDN Identification of TGFBR2 mutations in Marfan syndrome type II provided the direct evidence of the relation in humans. 15861007 2005
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 Biomarker disease BEFREE Identification of a 3p24.1 chromosomal breakpoint disrupting the gene encoding TGF-beta receptor 2 (TGFBR2) in a Japanese individual with Marfan syndrome led us to consider TGFBR2 as the gene underlying association with Marfan syndrome at the MSF2 locus. 15235604 2004
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 Biomarker disease CTD_human Identification of a 3p24.1 chromosomal breakpoint disrupting the gene encoding TGF-beta receptor 2 (TGFBR2) in a Japanese individual with Marfan syndrome led us to consider TGFBR2 as the gene underlying association with Marfan syndrome at the MSF2 locus. 15235604 2004
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease BEFREE By excluding the chromosome 15 disease locus, fibrillin 1 (FBN1), in a large French family with typical cardiovascular and skeletal anomalies, we raised the issue of genetic heterogeneity in MFS and the implication of a second locus (MFS2). 7632217 1994
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 CausalMutation disease CLINVAR
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease CLINVAR