GDF1, growth differentiation factor 1, 2657

N. diseases: 136; N. variants: 14
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
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
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
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
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.500 Biomarker disease GENOMICS_ENGLAND Synergistic interaction between Gdf1 and Nodal during anterior axis development. 16564040 2006