|
Juvenile polyposis syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Smad4 suppresses the tumorigenesis and aggressiveness of neuroblastoma through repressing the expression of heparanase.
|
27595937 |
2016 |
|
Juvenile polyposis syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling.
|
22316667 |
2012 |
|
Juvenile polyposis syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
|
20101697 |
2010 |
|
Juvenile polyposis syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
|
20101697 |
2010 |
|
Juvenile polyposis syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.
|
18823382 |
2009 |
|
Juvenile polyposis syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.
|
17873119 |
2007 |
|
Juvenile polyposis syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.
|
17873119 |
2007 |
|
Juvenile polyposis syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
SMAD4 mutations found in unselected HHT patients.
|
16613914 |
2006 |
|
Juvenile polyposis syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
|
15031030 |
2004 |
|
Juvenile polyposis syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
|
15031030 |
2004 |
|
Juvenile polyposis syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.
|
15235019 |
2004 |
|
Juvenile polyposis syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.
|
12417513 |
2002 |
|
Juvenile polyposis syndrome
|
|
0.800 |
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 |
|
Juvenile polyposis syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Germline mutations of the dpc4 gene in Korean juvenile polyposis patients.
|
10797267 |
2000 |
|
Juvenile polyposis syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.
|
10764709 |
2000 |
|
Juvenile polyposis syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.
|
9811934 |
1998 |
|
Juvenile polyposis syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.
|
9811934 |
1998 |
|
Juvenile polyposis syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.
|
9811934 |
1998 |
|
Juvenile polyposis syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
A structural basis for mutational inactivation of the tumour suppressor Smad4.
|
9214508 |
1997 |
|
Juvenile polyposis syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|