GDF1, growth differentiation factor 1, 2657

N. diseases: 136; N. variants: 14
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151221
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 		0.700 GeneticVariation disease UNIPROT Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. 28991257 2017
CUI: C3151221
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 		0.700 GeneticVariation disease UNIPROT Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. 17924340 2007
CUI: C3151221
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3151221
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 		0.700 CausalMutation disease CLINVAR
CUI: C3151221
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 		0.700 Biomarker disease CTD_human
CUI: C3151221
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 		0.700 Biomarker disease GENOMICS_ENGLAND