×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
0.760
GeneticVariation
disease
BEFREE
At the same time, SMAD4 pathogenic variants have not been reported in thoracic aortic disease families without JPS-HHT .
30809044
2019
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
0.760
Biomarker
disease
GENOMICS_ENGLAND
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
29650961
2018
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
0.760
GeneticVariation
disease
BEFREE
Patients with germline mutations in SMAD4 can present symptoms of both juvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT): the JP-HHT syndrome .
26572829
2016
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
0.760
Biomarker
disease
GENOMICS_ENGLAND
Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4.
25931195
2015
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
0.760
Biomarker
disease
BEFREE
Mutations in SMAD4 have been associated with juvenile polyposis syndrome and combined juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome .SMAD4 is part of the SMAD gene family.
26165824
2015
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
0.760
GeneticVariation
disease
BEFREE
We report on two patients with JPS-HHT with SMAD4 mutations associated with thoracic aortic disease.
23239472
2013
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
0.760
Biomarker
disease
GENOMICS_ENGLAND
SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction.
21465659
2011
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
0.760
GeneticVariation
disease
BEFREE
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome .
20101697
2010
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
0.760
GeneticVariation
disease
BEFREE
The SMAD4 mutations were similar to those found in other patients with the JP-HHT syndrome .
16613914
2006
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
0.760
Biomarker
disease
GENOMICS_ENGLAND
A review of juvenile polyposis syndrome.
16246179
2005
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
0.760
Biomarker
disease
GENOMICS_ENGLAND
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
15031030
2004
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
0.760
GeneticVariation
disease
UNIPROT
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
15031030
2004
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
0.760
CausalMutation
disease
CLINVAR
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
0.760
Biomarker
disease
CTD_human