×
Entrez Id:
4091
Gene Symbol:
SMAD6
SMAD6
0.700
Biomarker
disease
GENOMICS_ENGLAND
Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype.
30963242
2019
×
Entrez Id:
4091
Gene Symbol:
SMAD6
SMAD6
0.700
GeneticVariation
disease
UNIPROT
Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation.
22275001
2012
×
Entrez Id:
4091
Gene Symbol:
SMAD6
SMAD6
0.700
Biomarker
disease
GENOMICS_ENGLAND
Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation.
22275001
2012
×
Entrez Id:
4091
Gene Symbol:
SMAD6
SMAD6
0.700
CausalMutation
disease
CLINVAR
×
Entrez Id:
4091
Gene Symbol:
SMAD6
SMAD6
0.700
Biomarker
disease
CTD_human
×
Entrez Id:
6910
Gene Symbol:
TBX5
TBX5
0.100
CausalMutation
disease
CLINVAR
The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects.
25931334
2015
×
Entrez Id:
6910
Gene Symbol:
TBX5
TBX5
0.100
CausalMutation
disease
CLINVAR
Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease.
25500235
2014
×
Entrez Id:
6910
Gene Symbol:
TBX5
TBX5
0.100
CausalMutation
disease
CLINVAR
Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.
20519243
2010
×
Entrez Id:
6910
Gene Symbol:
TBX5
TBX5
0.100
CausalMutation
disease
CLINVAR
Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome.
21637475
2010
×
Entrez Id:
6910
Gene Symbol:
TBX5
TBX5
0.100
CausalMutation
disease
CLINVAR
Novel TBX5 mutations in patients with Holt-Oram syndrome.
17534187
2007
×
Entrez Id:
6910
Gene Symbol:
TBX5
TBX5
0.100
CausalMutation
disease
CLINVAR
Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.
16917909
2006
×
Entrez Id:
6910
Gene Symbol:
TBX5
TBX5
0.100
GeneticVariation
disease
CLINVAR
Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.
16917909
2006
×
Entrez Id:
6910
Gene Symbol:
TBX5
TBX5
0.100
CausalMutation
disease
CLINVAR
Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart.
16380715
2006
×
Entrez Id:
6910
Gene Symbol:
TBX5
TBX5
0.100
CausalMutation
disease
CLINVAR
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.
16183809
2005
×
Entrez Id:
6910
Gene Symbol:
TBX5
TBX5
0.100
GeneticVariation
disease
CLINVAR
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.
16183809
2005
×
Entrez Id:
6910
Gene Symbol:
TBX5
TBX5
0.100
CausalMutation
disease
CLINVAR
Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome.
15710732
2005
×
Entrez Id:
6910
Gene Symbol:
TBX5
TBX5
0.100
CausalMutation
disease
CLINVAR
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome.
12499378
2003
×
Entrez Id:
6910
Gene Symbol:
TBX5
TBX5
0.100
CausalMutation
disease
CLINVAR
Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.
12789647
2003
×
Entrez Id:
6910
Gene Symbol:
TBX5
TBX5
0.100
CausalMutation
disease
CLINVAR
Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome.
11555635
2001
×
Entrez Id:
6910
Gene Symbol:
TBX5
TBX5
0.100
CausalMutation
disease
CLINVAR
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.
10077612
1999
×
Entrez Id:
6910
Gene Symbol:
TBX5
TBX5
0.100
CausalMutation
disease
CLINVAR
Helicobacter pylori infection and autoimmune processes: an emerging field of study.
10077762
1998
×
Entrez Id:
6910
Gene Symbol:
TBX5
TBX5
0.100
CausalMutation
disease
CLINVAR
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.
8988164
1997
×
Entrez Id:
6910
Gene Symbol:
TBX5
TBX5
0.100
CausalMutation
disease
CLINVAR
Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.
8988165
1997