Gene: SMAD4 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		0.020 GeneticVariation group BEFREE A SMAD4 heterozygous variant, c.290G>T, p.(Arg97Leu), not present in population databases and predicted to be damaging to protein function, was identified in a family with thoracic aortic disease and no evidence of HHT or JPS. 30809044 2019
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		0.020 GeneticVariation group BEFREE We report on two patients with JPS-HHT with SMAD4 mutations associated with thoracic aortic disease. 23239472 2013