GDF1, growth differentiation factor 1, 2657

N. diseases: 136; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039685
Disease: Tetralogy of Fallot
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
CUI: C0039685
Disease: Tetralogy of Fallot
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
CUI: C0039685
Disease: Tetralogy of Fallot
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
CUI: C0039685
Disease: Tetralogy of Fallot
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
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.710 CausalMutation disease CLINVAR
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.710 Biomarker disease HPO
CUI: C0039685
Disease: Tetralogy of Fallot
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
CUI: C3178806
Disease: Right Atrial Isomerism
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
CUI: C3178806
Disease: Right Atrial Isomerism
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
CUI: C3178806
Disease: Right Atrial Isomerism
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
CUI: C3178806
Disease: Right Atrial Isomerism
Right Atrial Isomerism
0.620 Biomarker disease HPO
CUI: C3178806
Disease: Right Atrial Isomerism
Right Atrial Isomerism
0.620 Biomarker disease CTD_human
CUI: C0175707
Disease: Asplenia Syndrome
Asplenia Syndrome
0.600 GermlineCausalMutation disease ORPHANET Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1). 20413652 2010
CUI: C0175707
Disease: Asplenia Syndrome
Asplenia Syndrome
0.600 CausalMutation disease CLINVAR
CUI: C0175707
Disease: Asplenia Syndrome
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