rs587783060
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
CA
0.700
CausalMutation
CLINVAR
The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.
18823382
2009
rs587783060
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
CA
0.700
CausalMutation
CLINVAR
From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.
14526373
2003
rs587783060
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
CA
0.700
CausalMutation
CLINVAR
Mutation screening in juvenile polyposis syndrome.
16436638
2006
rs587783060
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
CA
0.700
CausalMutation
CLINVAR
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.
17873119
2007
rs587783060
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
CA
0.700
CausalMutation
CLINVAR
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
20101697
2010
rs587783060
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
CA
0.700
CausalMutation
CLINVAR
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
15031030
2004
rs587783060
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
CA
0.700
CausalMutation
CLINVAR
Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.
10764709
2000
rs587783060
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
CA
0.700
CausalMutation
CLINVAR
Gastric involvement in juvenile polyposis associated with germline SMAD4 mutations: an entity characterized by a mixed hypertrophic and polypoid gastropathy.
18355998
2008
rs587783060
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
CA
0.700
CausalMutation
CLINVAR
Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
23399955
2013
rs587783060
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
CA
0.700
CausalMutation
CLINVAR
The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.
15235019
2004
rs587783060
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
CA
0.700
CausalMutation
CLINVAR
Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.
18178612
2008