NODAL, nodal growth differentiation factor, 4838

N. diseases: 89; N. variants: 12
Disease: Holoprosencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.620 Biomarker disease GENOMICS_ENGLAND Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway. 27363716 2016
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.620 Biomarker disease CTD_human Screening for HPE-associated genes in humans suggests the involvement of NODAL or SHH signaling, or both. 23264560 2013
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.620 GeneticVariation disease BEFREE Significant reductions in the biological activity of NODAL alleles are detected among patients with congenital heart defects (CHD), laterality anomalies (e.g. left-right mis-specification phenotypes), and only rarely holoprosencephaly (HPE). 19553149 2009
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.620 GeneticVariation disease LHGDN Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly. 18538293 2008
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.620 Biomarker disease GENOMICS_ENGLAND
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.620 Biomarker disease HPO