FZD4, frizzled class receptor 4, 8322

N. diseases: 239; N. variants: 28
Disease: Vitreoretinal degeneration ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		0.030 GeneticVariation disease BEFREE The association of FZD4 variants with the presence of vitreoretinopathy. 26119001 2015
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		0.030 GeneticVariation disease BEFREE Mutant Frizzled 4 associated with vitreoretinopathy traps wild-type Frizzled in the endoplasmic reticulum by oligomerization. 14688793 2004
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		0.030 GeneticVariation disease BEFREE The severity of vitreoretinopathy in the individuals involved in this study varied, but no patient with mutations in FZD4 exhibited rhegmatogenous retinal detachment although this pathology is thought to be the most common type of retinal detachment in FEVR. 14507768 2003