Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.420 Biomarker disease GENOMICS_ENGLAND Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. 29650961 2018
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.420 AlteredExpression disease BEFREE Moreover, in PAH model, Smad3, p-Smad3 and Smad4 were all downregulated in lung tissues, and SIS3 (Smad3 inhibitor) could reverse the effects of anti-miR-199a-5p in PAH rats. 27038547 2016
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.420 GeneticVariation disease BEFREE Pulmonary arterial hypertension (PAH) and hereditary hemorrhagic telangiectasia (HHT) are distinct clinical entities caused by germline mutations in genes encoding members of the TGFbeta/BMP superfamily: BMPR2 in PAH and ACVRL1, ENG, or SMAD4 in HHT. 18792970 2008
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.420 Biomarker disease HPO