SMAD2, SMAD family member 2, 4087

N. diseases: 289; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
0.330 GeneticVariation disease BEFREE CNC-, but not SHF-specific, deletion of Smad2 preserved aortic wall architecture and reduced aortic dilation in this mouse model of LDS. 30614814 2019
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
0.330 Biomarker disease BEFREE More recently, TGF-β ligands, TGFB2 and TGFB3, as well as intracellular downstream effectors of the TGF-β pathway, SMAD2 and SMAD3, were shown to be involved in LDS. 29392890 2018
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
0.330 Biomarker disease GENOMICS_ENGLAND More recently, TGF-β ligands, TGFB2 and TGFB3, as well as intracellular downstream effectors of the TGF-β pathway, SMAD2 and SMAD3, were shown to be involved in LDS. 29392890 2018
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
0.330 Biomarker disease BEFREE Dysregulation of the TGF-ß pathway has been implicated in the pathogenesis of inherited disorders predisposing to thoracic aortic aneurysms syndromes (TAAS) including Marfan syndrome (MFS; FBN1) and Loeys-Dietz syndrome (LDS; TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3). 29350460 2018
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
0.330 Biomarker disease GENOMICS_ENGLAND More recently, TGF-β ligands, TGFB2 and TGFB3, as well as intracellular downstream effectors of the TGF-β pathway, SMAD2 and SMAD3, were shown to be involved in LDS. 29392890 2018