×
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
28152038 2017
×
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
28944238 2017
×
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
A SMAD4 mutation indicative of juvenile polyposis syndrome in a family previously diagnosed with Menetrier's disease.
27375208 2016
×
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients.
26900293 2016
×
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
26681312 2016
×
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
JP-HHT phenotype in Danish patients with SMAD4 mutations.
26572829 2016
×
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
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
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Myhre syndrome.
24580733 2014
×
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review.
24525918 2014
×
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Novel SMAD4 mutation causing Myhre syndrome.
24715504 2014
×
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.
24398790 2014
×
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Bilateral otospongiosis and a unilateral vestibular schwannoma in a patient with Myhre syndrome.
24841914 2014
×
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
24424121 2014
×
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer.
23139211 2013
×
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
23399955 2013
×
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
23399955 2013
×
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.
23239472 2013
×
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling.
22316667 2012
×
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling.
22316667 2012
×
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
A unifying working hypothesis for juvenile polyposis syndrome and Ménétrier's disease: specific localization or concomitant occurrence of a separate entity?
22748914 2012
×
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction.
21465659 2011
×
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
20101697 2010
×
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
20101697 2010
×
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
SMAD4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia.
20685751 2010
×
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.
18178612 2008