NODAL, nodal growth differentiation factor, 4838

N. diseases: 89; N. variants: 12
Disease: Atrial Septal Defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.110 GeneticVariation group BEFREE We describe a girl with congenitally corrected transposition of the great arteries (ccTGA) and ASD secundum whose whole-exome sequencing (WES) revealed a de novo splicing (c.1379-2A>G) variant in TLL1 as well as an inherited truncating variant in NODAL. 31570783 2020
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.110 Biomarker group HPO