Tetralogy of Fallot
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
|
28991257 |
2017 |
Tetralogy of Fallot
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
|
17924340 |
2007 |
Tetralogy of Fallot
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
Here, we show that heterozygous loss-of-function mutations in the human GDF1 gene contribute to cardiac defects ranging from tetralogy of Fallot to transposition of the great arteries and that decreased TGF- beta signaling provides a framework for understanding their pathogenesis.
|
17924340 |
2007 |
Tetralogy of Fallot
|
0.710 |
Biomarker
|
disease |
CTD_human |
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
|
17924340 |
2007 |
Tetralogy of Fallot
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Tetralogy of Fallot
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Tetralogy of Fallot
|
0.710 |
Biomarker
|
disease |
HPO |
|
|
|
Tetralogy of Fallot
|
0.710 |
SusceptibilityMutation
|
disease |
ORPHANET |
|
|
|
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
|
28991257 |
2017 |
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
|
17924340 |
2007 |
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Right Atrial Isomerism
|
0.620 |
AlteredExpression
|
disease |
BEFREE |
In this work, hypoxia differently affected cell survival and pro-apoptotic program in two NB cell lines, either expressing RAI (SKNBE) or not (SKNMC).
|
29057481 |
2018 |
Right Atrial Isomerism
|
0.620 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
|
28991257 |
2017 |
Right Atrial Isomerism
|
0.620 |
Biomarker
|
disease |
BEFREE |
This finding, supported by the similar phenotype in Gdf1 knockout mouse, provides firm evidence that RAI can occur as a recessively inherited condition, with GDF1 as the culprit gene.
|
20413652 |
2010 |
Right Atrial Isomerism
|
0.620 |
Biomarker
|
disease |
HPO |
|
|
|
Right Atrial Isomerism
|
0.620 |
Biomarker
|
disease |
CTD_human |
|
|
|
Asplenia Syndrome
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1).
|
20413652 |
2010 |
Asplenia Syndrome
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Asplenia Syndrome
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
CONOTRUNCAL HEART MALFORMATIONS (disorder)
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
|
28991257 |
2017 |
CONOTRUNCAL HEART MALFORMATIONS (disorder)
|
0.500 |
GeneticVariation
|
disease |
UNIPROT |
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
|
17924340 |
2007 |
CONOTRUNCAL HEART MALFORMATIONS (disorder)
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Synergistic interaction between Gdf1 and Nodal during anterior axis development.
|
16564040 |
2006 |