GDF1, growth differentiation factor 1, 2657

N. diseases: 136; N. variants: 14
Disease: Tetralogy of Fallot ×
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