ETV5, ETS variant transcription factor 5, 2119

N. diseases: 121; N. variants: 11
Disease: Radial polydactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		0.010 AlteredExpression disease BEFREE Here, we show that conditional knockout of the FGF-activated transcription factor genes Etv4 and Etv5 in mouse led to ectopic Shh expression in the anterior limb bud and a preaxial polydactyly (PPD) skeletal phenotype. 19386269 2009