|
Holt-Oram syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Synergistic activation of cardiac genes by myocardin and Tbx5.
|
21897873 |
2011 |
|
Holt-Oram syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.
|
20519243 |
2010 |
|
Holt-Oram syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Structural basis of TBX5-DNA recognition: the T-box domain in its DNA-bound and -unbound form.
|
20450920 |
2010 |
|
Holt-Oram syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Structural basis of TBX5-DNA recognition: the T-box domain in its DNA-bound and -unbound form.
|
20450920 |
2010 |
|
Holt-Oram syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Functional role of transcriptional factor TBX5 in pre-mRNA splicing and Holt-Oram syndrome via association with SC35.
|
19648116 |
2009 |
|
Holt-Oram syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation in myosin heavy chain 6 causes atrial septal defect.
|
15735645 |
2005 |
|
Holt-Oram syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families.
|
12818525 |
2004 |
|
Holt-Oram syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome.
|
12499378 |
2003 |
|
Holt-Oram syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome.
|
11555635 |
2001 |
|
Holt-Oram syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
A G80R mutation of Tbx5, which causes substantial cardiac defects with minor skeletal abnormalities in HOS, did not activate Nppa or show synergistic activation, whereas R237Q, which causes upper-limb malformations without cardiac abnormalities, activated the Nppa promoter to a similar extent to that of wildtype Tbx5.
|
11431700 |
2001 |
|
Holt-Oram syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome.
|
10842287 |
2000 |
|
Holt-Oram syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.
|
10077612 |
1999 |
|
Holt-Oram syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.
|
10077612 |
1999 |
|
Holt-Oram syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.
|
8988164 |
1997 |
|
Holt-Oram syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.
|
8988165 |
1997 |
|
Holt-Oram syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.
|
8988165 |
1997 |
|
Holt-Oram syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|