GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Disease: Congenital hemivertebra ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		0.110 GeneticVariation disease BEFREE We found a de novo heterozygous mutation in the N-terminal region of the GLI3 gene (c.332T>C, p.M111T) in a patient with esophageal atresia and hemivertebrae. 24819706 2014
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		0.110 Biomarker disease HPO