GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Disease: Congenital absence of tibia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265633
Disease: Congenital absence of tibia
Congenital absence of tibia 		0.310 GermlineCausalMutation disease ORPHANET Here we describe an ~5 kb deletion within the SHH repressor GLI3 in two patients with bilateral tibial hemimelia. 26791356 2016
CUI: C0265633
Disease: Congenital absence of tibia
Congenital absence of tibia 		0.310 GeneticVariation disease BEFREE Here we describe an ~5 kb deletion within the SHH repressor GLI3 in two patients with bilateral tibial hemimelia. 26791356 2016