FZD4, frizzled class receptor 4, 8322

N. diseases: 239; N. variants: 28
Disease: RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857299
Disease: RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL
RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL 		0.310 GeneticVariation disease BEFREE Because severe congenital retinal detachment has not been previously associated with all the FEVR genes, we have thus expanded the phenotypic spectrum of FEVR, a highly variable retinal detachment phenotype that has clinical overlap with NCRNA.We identified seven novel mutations. 28192794 2017
CUI: C1857299
Disease: RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL
RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL 		0.310 GermlineCausalMutation disease ORPHANET Persistent hyperplastic primary vitreous: congenital malformation of the eye. 20092598 2009
CUI: C1857299
Disease: RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL
RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL 		0.310 GermlineCausalMutation disease ORPHANET Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees. 19172507 2009