FZD4, frizzled class receptor 4, 8322

N. diseases: 239; N. variants: 28
Disease: Persistent primary vitreous ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266559
Disease: Persistent primary vitreous
Persistent primary vitreous 		0.010 GeneticVariation disease BEFREE Interestingly, mutations at the same residue but resulting in a different missense change were previously described in subjects with XL-FEVR (p.Arg41Lys) or persistent fetal vasculature syndrome (p.Arg41Ser), indicating that the novel p.Arg41Thr change causes a more severe retinal phenotype. 20491809 2010