|
| 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 |
|
| 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
|
Juvenile polyposis syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Missense mutations of MADH4: characterization of the mutational hot spot and functional consequences in human tumors.
|
15014009 |
2004 |
|
| Entrez Id: |
4089 |
| Gene Symbol: |
SMAD4 |
SMAD4
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation |
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
|
Juvenile polyposis syndrome
|
1.000 |
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
|
Neoplastic Syndromes, Hereditary
|
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 |
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
|
Juvenile polyposis syndrome
|
1.000 |
CausalMutation |
CLINVAR |
A total of 77 JP cases were sequenced for mutations in the MADH4, BMPR1A, BMPR1B, BMPR2, and/or ACVR1 (activin A receptor) genes.
|
15235019 |
2004 |
|
| Entrez Id: |
4089 |
| Gene Symbol: |
SMAD4 |
SMAD4
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.
|
15235019 |
2004 |
|
| Entrez Id: |
4089 |
| Gene Symbol: |
SMAD4 |
SMAD4
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis.
|
16152648 |
2005 |
|
| Entrez Id: |
4089 |
| Gene Symbol: |
SMAD4 |
SMAD4
|
Juvenile polyposis syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis.
|
16152648 |
2005 |
|
| Entrez Id: |
4089 |
| Gene Symbol: |
SMAD4 |
SMAD4
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis.
|
16152648 |
2005 |
|
| Entrez Id: |
4089 |
| Gene Symbol: |
SMAD4 |
SMAD4
|
Juvenile polyposis syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.
|
16287957 |
2005 |
|
| Entrez Id: |
4089 |
| Gene Symbol: |
SMAD4 |
SMAD4
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
Mutation screening in juvenile polyposis syndrome.
|
16436638 |
2006 |
|
| Entrez Id: |
4089 |
| Gene Symbol: |
SMAD4 |
SMAD4
|
Juvenile polyposis syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Mutation screening in juvenile polyposis syndrome.
|
16436638 |
2006 |
|
| Entrez Id: |
4089 |
| Gene Symbol: |
SMAD4 |
SMAD4
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Mutation screening in juvenile polyposis syndrome.
|
16436638 |
2006 |
|
| Entrez Id: |
4089 |
| Gene Symbol: |
SMAD4 |
SMAD4
|
Juvenile polyposis syndrome
|
1.000 |
CausalMutation |
CLINVAR |
SMAD4 mutations found in unselected HHT patients.
|
16613914 |
2006 |
|
| 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
|
Juvenile polyposis syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Development of a denaturing high-performance liquid chromatography screening method for SMAD4 in juvenile polyposis syndrome.
|
17362581 |
2007 |
|
| Entrez Id: |
4089 |
| Gene Symbol: |
SMAD4 |
SMAD4
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation |
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
|
Juvenile polyposis syndrome
|
1.000 |
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
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
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
|
Neoplastic Syndromes, Hereditary
|
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 |
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
|
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 |