Tetralogy of Fallot
|
1.000 |
Biomarker
|
disease |
BEFREE |
The six pathogenic variations were identified on the genes CHD7 (CHARGE syndrome), CITED2 (tetralogy of Fallot, ventricular septal defect and atrial septal defect), ZFPM2 (tetralogy of Fallot), MYH6 (atrial septal defect, familial isolated dilated cardiomyopathy) and, in two cases, KMT2D (Kabuki syndrome).
|
29536580 |
2018 |
Tetralogy of Fallot
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Aberrant methylation status at the promoter CpG island shore of ZFPM2 gene may be associated with its gene transcription regulation in the TOF patients.
|
26959486 |
2016 |
Tetralogy of Fallot
|
1.000 |
SusceptibilityMutation
|
disease |
ORPHANET |
Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.
|
24702427 |
2015 |
Tetralogy of Fallot
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In P2, we identified a novel nonsynonymous SNV in ZFPM2 (NM_012082.3:c.1576C>T), a known causative gene for TOF, which may act as a protective variant downstream of TBX1, haploinsufficiency of which is responsible for congenital heart disease in individuals with 22q11DS.
|
25981510 |
2015 |
Tetralogy of Fallot
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
It suggests that ZFPM2/FOG2 genetic variants may be a novel potential bio-markers and treatment targets for the non-syndromic TOF and DORV.
|
24469719 |
2014 |
Tetralogy of Fallot
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this report, we screened a larger CTD population, which comprised 145 tetralogy of Fallot (TOF), 37 double-outlet ventricle outflow (DORV), and 18 transposition of the great artery (TGA), to investigate exon mutations as well as copy number variations in ZFPM2/FOG2.
|
25025186 |
2014 |
Tetralogy of Fallot
|
1.000 |
Biomarker
|
disease |
BEFREE |
Five DNA sequence variants affecting variably conserved residues of ZFPM2/FOG2 were identified in patients with TOF type or ventricular septal defect type of DORV.
|
21919901 |
2012 |
Tetralogy of Fallot
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.
|
20807224 |
2011 |
Tetralogy of Fallot
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.
|
20807224 |
2011 |
Tetralogy of Fallot
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic screening of the canine zinc finger protein multitype 2 (cZFPM2) gene in dogs with tetralogy of Fallot (TOF).
|
19630881 |
2009 |
Tetralogy of Fallot
|
1.000 |
Biomarker
|
disease |
BEFREE |
In the present review, we hypothesize that mutations in the GATA binding protein 4 (GATA-4)/friend of GATA-2 transcriptional complex and NKX2.5 gene may play a role in the abnormal migration and behavior of precardiac cells during heart development in patients with ToF.
|
19818949 |
2009 |
Tetralogy of Fallot
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In human, while FOG-2 mutations have been identified in sporadic cases of tetralogy of Fallot, no mutations are described to be associated with impaired gonadal function.
|
17309641 |
2007 |
Tetralogy of Fallot
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Fog2 is required for normal diaphragm and lung development in mice and humans.
|
16103912 |
2005 |
Tetralogy of Fallot
|
1.000 |
Biomarker
|
disease |
MGD |
Fog2 is required for normal diaphragm and lung development in mice and humans.
|
16103912 |
2005 |
Tetralogy of Fallot
|
1.000 |
SusceptibilityMutation
|
disease |
ORPHANET |
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.
|
14517948 |
2003 |
Tetralogy of Fallot
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.
|
14517948 |
2003 |
Tetralogy of Fallot
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
ZFPM2/FOG2 gene mutations may contribute to some sporadic cases of TOF.
|
14517948 |
2003 |
Tetralogy of Fallot
|
1.000 |
Biomarker
|
disease |
MGD |
FOG-2, a cofactor for GATA transcription factors, is essential for heart morphogenesis and development of coronary vessels from epicardium.
|
10892744 |
2000 |
Tetralogy of Fallot
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Tetralogy of Fallot
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
Tetralogy of Fallot
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Tetralogy of Fallot
|
1.000 |
Biomarker
|
disease |
HPO |
|
|
|