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: 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
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
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		0.400 GeneticVariation disease CLINVAR Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. 28991257 2017
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		0.400 GeneticVariation disease CLINVAR Clinical application of whole-exome sequencing across clinical indications. 26633542 2016
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		0.400 CausalMutation disease CLINVAR Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1). 20413652 2010
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		0.400 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: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		0.400 CausalMutation disease CLINVAR
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		0.400 Biomarker disease HPO
CUI: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome 		0.400 Biomarker disease CTD_human
CUI: C1956410
Disease: Double Outlet Right Ventricle, Noncommitted VSD
Double Outlet Right Ventricle, Noncommitted VSD 		0.300 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: C1956411
Disease: Double Outlet Right Ventricle, Subaortic VSD
Double Outlet Right Ventricle, Subaortic VSD 		0.300 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: C1956412
Disease: Double Outlet Right Ventricle, Subpulmonary VSD
Double Outlet Right Ventricle, Subpulmonary VSD 		0.300 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: C1956413
Disease: Taussig-Bing Anomaly
Taussig-Bing Anomaly 		0.300 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: C0265357
Disease: Polysplenia Syndrome
Polysplenia Syndrome 		0.300 Biomarker disease CTD_human
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		0.300 Biomarker disease CTD_human
CUI: C3178807
Disease: Left Atrial Isomerism
Left Atrial Isomerism 		0.300 Biomarker disease CTD_human
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0149955
Disease: Annular pancreas
Annular pancreas 		0.200 Biomarker disease MGD Regulation of left-right patterning in mice by growth/differentiation factor-1. 10700179 2000