×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
0.760
CausalMutation
CLINVAR
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Pancreatic carcinoma
0.700
CausalMutation
CLINVAR
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Malignant tumor of colon
0.200
CausalMutation
CLINVAR
×
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
Juvenile polyposis syndrome
1.000
CausalMutation
CLINVAR
Dual role of the Smad4/DPC4 tumor suppressor in TGFbeta-inducible transcriptional complexes.
9389648
1997
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
1.000
CausalMutation
CLINVAR
A structural basis for mutational inactivation of the tumour suppressor Smad4.
9214508
1997
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
1.000
CausalMutation
CLINVAR
We therefore confirm DPC4 as a cause of JPS , but show that there is considerable remaining, uncharacterized genetic heterogeneity in this disease.
9811934
1998
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
1.000
GeneticVariation
CLINVAR
We therefore confirm DPC4 as a cause of JPS , but show that there is considerable remaining, uncharacterized genetic heterogeneity in this disease.
9811934
1998
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
1.000
CausalMutation
CLINVAR
Here it is shown that a subset of juvenile polyposis families carry germ line mutations in the gene SMAD4 (also known as DPC4 ), located on chromosome 18q21.1, that encodes a critical cytoplasmic mediator in the transforming growth factor-beta signaling pathway.
9582123
1998
×
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
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Mutations in the SMAD4/DPC4 gene in juvenile polyposis.
9582123
1998
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.
9811934
1998
×
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
Neoplastic Syndromes, Hereditary
0.100
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
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
SMAD genes in juvenile polyposis.
10441006
1999
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
1.000
CausalMutation
CLINVAR
Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.
10764709
2000
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
1.000
CausalMutation
CLINVAR
Germline mutations of the dpc4 gene in Korean juvenile polyposis patients.
10797267
2000
×
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
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.
10764709
2000
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Germline mutations of the dpc4 gene in Korean juvenile polyposis patients.
10797267
2000
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
1.000
CausalMutation
CLINVAR
Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers.
11583957
2001
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Formation of a stable heterodimer between Smad2 and Smad4.
11274206
2001
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.
12417513
2002
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
1.000
CausalMutation
CLINVAR
Role of Smad4 (DPC4) inactivation in human cancer.
12821112
2003
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
1.000
CausalMutation
CLINVAR
From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.
14526373
2003