×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Adenocarcinoma of lung (disorder)
0.140
GeneticVariation
CLINVAR
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
26619011
2016
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Adenocarcinoma of pancreas
0.200
GeneticVariation
CLINVAR
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
26619011
2016
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Adenocarcinoma of prostate
0.100
GeneticVariation
CLINVAR
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
26619011
2016
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Colorectal Neoplasms
0.500
GeneticVariation
CLINVAR
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
26619011
2016
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Colorectal Neoplasms
0.500
CausalMutation
CLINVAR
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
26619011
2016
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Colorectal Neoplasms
0.500
CausalMutation
CLINVAR
Transcriptional control by the TGF-beta/Smad signaling system.
10775259
2000
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Colorectal Neoplasms
0.500
CausalMutation
CLINVAR
Role of Smad4 (DPC4) inactivation in human cancer.
12821112
2003
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Colorectal Neoplasms
0.500
CausalMutation
CLINVAR
Inactivation of both alleles of the DPC4/SMAD4 gene in advanced colorectal cancers: identification of seven novel somatic mutations in tumors from Japanese patients.
10479724
1999
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Colorectal Neoplasms
0.500
CausalMutation
CLINVAR
Molecular and functional consequences of Smad4 C-terminal missense mutations in colorectal tumour cells.
14715079
2004
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Colorectal Neoplasms
0.500
CausalMutation
CLINVAR
Somatic alterations of the DPC4 gene in human colorectal cancers in vivo.
8898652
1996
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Colorectal Neoplasms
0.500
CausalMutation
CLINVAR
Novel mutations in Smad proteins that inhibit signaling by the transforming growth factor beta in mammalian cells.
17994767
2007
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Colorectal Neoplasms
0.500
CausalMutation
CLINVAR
TGF-beta signaling and cancer: structural and functional consequences of mutations in Smads.
9679244
1998
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Dysmorphic features
0.100
CausalMutation
CLINVAR
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
Dysmorphic features
0.100
CausalMutation
CLINVAR
Genetic testing by cancer site: colon (polyposis syndromes).
22846733
2013
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Dysmorphic features
0.100
CausalMutation
CLINVAR
Mutations of SMAD4 account for both LAPS and Myhre syndromes.
22585601
2012
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Dysmorphic features
0.100
CausalMutation
CLINVAR
Clinical application of exome sequencing in undiagnosed genetic conditions.
22581936
2012
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Dysmorphic features
0.100
CausalMutation
CLINVAR
Natural history and life-threatening complications in Myhre syndrome and review of the literature.
27562837
2016
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Dysmorphic features
0.100
CausalMutation
CLINVAR
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
24424121
2014
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Dysmorphic features
0.100
CausalMutation
CLINVAR
SMAD4 mutations found in unselected HHT patients.
16613914
2006
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Dysmorphic features
0.100
CausalMutation
CLINVAR
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
22243968
2012
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Dysmorphic features
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
Dysmorphic features
0.100
CausalMutation
CLINVAR
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
22158539
2011
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Dysmorphic features
0.100
CausalMutation
CLINVAR
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.
17873119
2007
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Dysmorphic features
0.100
CausalMutation
CLINVAR
Myhre syndrome: Clinical features and restrictive cardiopulmonary complications.
26420300
2015
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Dysmorphic features
0.100
CausalMutation
CLINVAR
Novel SMAD4 mutation causing Myhre syndrome.
24715504
2014