GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Disease: Polydactyly of toes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		0.030 Biomarker disease BEFREE Genetic polydactyly mice such as Pdn/Pdn (Polydactyly Nagoya), Xt(H)/Xt(H) (Extra toes) and Xt(J)/Xt(J) (Extra toes Jackson) are the mouse homolog of GCPS, and Gli3(tmlUrtt)/Gli3(tmlUrt) is produced as the mouse homolog of PHS. 20201963 2010
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		0.030 GeneticVariation disease BEFREE GLI3 mutations have been implicated in the mouse mutant extra toes, as well as in human Greig cephalopolydactaly syndrome and the autosomal dominant form of Pallister-Hall syndrome. 9440116 1997
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		0.030 GeneticVariation disease BEFREE Mutations in GLI3 lead to the development of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutations extra toes (Xt) and anterior digit deformity (add). 7814032 1995