Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary hemorrhagic telangiectasia
0.400 Biomarker disease BEFREE Blockade of ANGPT2 function in an in vivo Smad4 model of hereditary hemorrhagic telangiectasia alleviated these vascular phenotypes, further implicating ANGPT2 as an important TGFβ downstream mediator of AVM formation. 30744395 2019
Hereditary hemorrhagic telangiectasia
0.400 Biomarker disease BEFREE However, <i>smad4/DPC4</i> is also mutated in other conditions and cancers such as juvenile polyposis syndrome with and without hereditary haemorrhagic telangiectasia, colorectal and prostate cancers.Immunohistochemistry for smad4/DPC4 protein is most useful in separating benign/reactive conditions from pancreatic cancer in needle/core biopsies. 29720405 2018
Hereditary hemorrhagic telangiectasia
0.400 GeneticVariation disease BEFREE One patient with mutations in both ENG and ACVRL1 genes was identified, as were two SMAD4-mutated patients suffering from the overlapping juvenile polyposis-HHT syndrome. 30251589 2018
Hereditary hemorrhagic telangiectasia
0.400 GeneticVariation disease BEFREE Mutations in the SMAD4 gene are present in families with juvenile polyposis-HHT syndrome that involves AVMs. 29976569 2018
Hereditary hemorrhagic telangiectasia
0.400 Biomarker disease BEFREE Vascular deficiency of Smad4 causes arteriovenous malformations: a mouse model of Hereditary Hemorrhagic Telangiectasia. 29460088 2018
Hereditary hemorrhagic telangiectasia
0.400 GeneticVariation disease BEFREE Background Hereditary hemorrhagic telangiectasia ( HHT ) is a rare genetic vascular disorder caused by mutations in endoglin ( ENG ), activin receptor-like kinase 1 ( ACVRL 1; ALK 1), or SMAD 4. 30571376 2018
Hereditary hemorrhagic telangiectasia
0.400 GeneticVariation disease BEFREE SMAD4 gene mutation in HHT patients is independently associated with a higher risk of aortic root and ascending aortic dilation as compared to other HHT patients and non-HHT controls. 28874282 2017
Hereditary hemorrhagic telangiectasia
0.400 GeneticVariation disease BEFREE JP-HHT phenotype in Danish patients with SMAD4 mutations. 26572829 2016
Hereditary hemorrhagic telangiectasia
0.400 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 2014
Hereditary hemorrhagic telangiectasia
0.400 GeneticVariation disease BEFREE Two juvenile polyps, hereditary hemorrhagic telangiectasia and SMAD4 mutation. 23794345 2013
Hereditary hemorrhagic telangiectasia
0.400 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
0.400 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
0.400 GeneticVariation disease BEFREE SMAD4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia. 20685751 2010
Hereditary hemorrhagic telangiectasia
0.400 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
0.400 GeneticVariation disease BEFREE The identification of SMAD4 mutations in HHT patients without prior diagnosis of JP has significant and immediate clinical implications, as these people are likely to be at risk of having JP-HHT with the associated increased risk of gastrointestinal cancer. 16613914 2006
Hereditary hemorrhagic telangiectasia
0.400 Biomarker disease GENOMICS_ENGLAND Gastric juvenile polyposis associated with germline SMAD4 mutation. 15754356 2005
Hereditary hemorrhagic telangiectasia
0.400 GeneticVariation disease BEFREE Patients with juvenile polyposis who have an MADH4 mutation should be screened for the vascular lesions associated with hereditary haemorrhagic telangiectasia, especially occult arteriovenous malformations in visceral organs that may otherwise present suddenly with serious medical consequences. 15031030 2004