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: 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: C3178805
Disease: Heterotaxy Syndrome
Heterotaxy Syndrome
0.400 Biomarker disease CTD_human