NODAL, nodal growth differentiation factor, 4838

N. diseases: 89; N. variants: 12
Disease: Situs ambiguus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		0.510 Biomarker disease GENOMICS_ENGLAND Here we have investigated whether variants in NODAL are present in patients with heterotaxy and/or isolated cardiovascular malformations (CVM) thought to be caused by abnormal heart tube looping. 19064609 2009
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		0.510 GeneticVariation disease BEFREE Here we have investigated whether variants in NODAL are present in patients with heterotaxy and/or isolated cardiovascular malformations (CVM) thought to be caused by abnormal heart tube looping. 19064609 2009
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		0.510 GeneticVariation disease ORPHANET X-linked situs abnormalities result from mutations in ZIC3. 9354794 1997