rs281875322
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
0.820
GeneticVariation
BEFREE
They both had de novo c.1498A > G (p.Ile500Val ) variant in SMAD4 and presented with key characteristics of Myhre syndrome but also revealed uncommon features (polydactyly in the girl and precocious puberty in the boy).
31654632
2020
rs281875322
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
0.820
GeneticVariation
BEFREE
We report a 2-year-old girl diagnosed with Myhre syndrome by whole exome sequencing (WES) that revealed the recurrent p.Ile500Val mutation in the SMAD4 gene.
29230941
2018
rs281875322
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
0.820
GeneticVariation
UNIPROT
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
22243968
2012
rs281875322
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
G
0.820
CausalMutation
CLINVAR
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
22158539
2011
rs281875322
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
0.820
GeneticVariation
UNIPROT
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
22158539
2011
rs80338963
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
G
0.800
GeneticVariation
CLINVAR
Smad4 suppresses the tumorigenesis and aggressiveness of neuroblastoma through repressing the expression of heparanase.
27595937
2016
rs281875320
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
0.800
GeneticVariation
UNIPROT
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
22243968
2012
rs281875321
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
0.800
GeneticVariation
UNIPROT
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
22243968
2012
rs80338963
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
T
0.800
CausalMutation
CLINVAR
Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling.
22316667
2012
rs281875320
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
0.800
GeneticVariation
UNIPROT
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
22158539
2011
rs281875320
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
G
0.800
CausalMutation
CLINVAR
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
22158539
2011
rs281875321
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
0.800
GeneticVariation
UNIPROT
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
22158539
2011
rs281875321
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Myhre syndrome
C
0.800
CausalMutation
CLINVAR
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
22158539
2011
rs80338963
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
T
0.800
CausalMutation
CLINVAR
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
20101697
2010
rs80338963
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
G
0.800
GeneticVariation
CLINVAR
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
20101697
2010
rs80338963
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
G
0.800
GeneticVariation
CLINVAR
The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.
18823382
2009
rs80338963
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
T
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
rs80338963
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
G
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
rs80338963
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
T
0.800
CausalMutation
CLINVAR
SMAD4 mutations found in unselected HHT patients.
16613914
2006
rs121912580
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
0.800
GeneticVariation
UNIPROT
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
15031030
2004
rs121912581
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
0.800
GeneticVariation
UNIPROT
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
15031030
2004
rs80338963
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
G
0.800
GeneticVariation
CLINVAR
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
15031030
2004
rs80338963
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
T
0.800
CausalMutation
CLINVAR
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
15031030
2004
rs80338963
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
T
0.800
CausalMutation
CLINVAR
The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.
15235019
2004
rs281875324
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
Juvenile polyposis syndrome
0.800
GeneticVariation
UNIPROT
Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.
12417513
2002