Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary hemorrhagic telangiectasia
0.580 GeneticVariation disease BEFREE SMAD4 gene mutation increases the risk of aortic dilation in patients with hereditary haemorrhagic telangiectasia. 28874282 2018
Hereditary hemorrhagic telangiectasia
0.580 Biomarker disease BEFREE SMAD4 carriers should be managed for juvenile polyposis and hereditary hemorrhagic telangiectasia because symptoms of both conditions are likely yet unpredictable. 24525918 2015
Hereditary hemorrhagic telangiectasia
0.580 GeneticVariation disease BEFREE A juvenile polyposis-hereditary hemorrhagic telangiectasia overlap syndrome has previously been reported in 22% of patients with juvenile polyposis due to a SMAD4 mutation. 22810475 2012
Hereditary hemorrhagic telangiectasia
0.580 GeneticVariation disease BEFREE SMAD4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia. 20685751 2010
Hereditary hemorrhagic telangiectasia
0.580 GeneticVariation disease BEFREE Any JP patient with a SMAD4 mutation is, therefore, at risk for the visceral manifestations of HHT and any HHT patient with SMAD4 mutation is at risk for early onset gastrointestinal cancer. 20101697 2010
Hereditary hemorrhagic telangiectasia
0.580 Biomarker disease BEFREE Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia. 19270816 2009
Hereditary hemorrhagic telangiectasia
0.580 GeneticVariation disease BEFREE SMAD4 mutations found in unselected HHT patients. 16613914 2006
Hereditary hemorrhagic telangiectasia
0.580 Biomarker disease GENOMICS_ENGLAND A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 15031030 2004
Hereditary hemorrhagic telangiectasia
0.580 GeneticVariation disease BEFREE A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 15031030 2004
Hereditary hemorrhagic telangiectasia
0.580 GermlineCausalMutation disease ORPHANET