GDF1, growth differentiation factor 1, 2657

N. diseases: 136; N. variants: 14
Disease: Transposition of Great Vessels ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		0.410 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: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		0.410 Biomarker disease CTD_human 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: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		0.410 CausalMutation disease CLINVAR
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		0.410 Biomarker disease HPO