GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Disease: Acrocallosal syndrome, Schinzel type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931760
Disease: Acrocallosal syndrome, Schinzel type
Acrocallosal syndrome, Schinzel type 		0.300 GermlineCausalMutation disease ORPHANET A de novo GLI3 mutation in a patient with acrocallosal syndrome. 23633388 2013
CUI: C2931760
Disease: Acrocallosal syndrome, Schinzel type
Acrocallosal syndrome, Schinzel type 		0.300 GermlineCausalMutation disease ORPHANET De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. 12414818 2002