GDF1, growth differentiation factor 1, 2657

N. diseases: 136; N. variants: 14
Disease: Congenital Heart Defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.430 Biomarker group CTD_human Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. 28991257 2017
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.430 GeneticVariation group BEFREE Association of GDF1 rs4808863 with fetal congenital heart defects: a case-control study. 26656983 2015
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.430 GeneticVariation group BEFREE Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. 17924340 2007
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.430 Biomarker group BEFREE We describe a 5-month-old boy with complex congenital heart defects (dTGA, DORV, VSD, ASD, and PDA), minor facial and ear anomalies, deep palmar creases, multiple vertebral anomalies, agenesis of the corpus callosum, and mosaic tetrasomy 8p (47,XY,+i(8)(p10)[88%]/46,XY[12%] in blood with normal chromosomes in cultured skin fibroblasts. 9415694 1997
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.430 GeneticVariation group CLINVAR