SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Disease: Vascular Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		0.010 GeneticVariation group BEFREE Hereditary hemorrhagic telangiectasia (HHT), the most common inherited vascular disorder, is caused by mutations in genes involved in the transforming growth factor beta (TGF-β) signaling pathway (ENG, ACVRL1, and SMAD4). 23972370 2013