FZD4, frizzled class receptor 4, 8322

N. diseases: 239; N. variants: 28
Disease: Familial Exudative Vitreoretinopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs919205099
rs919205099
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C0339539
Disease:
Familial Exudative Vitreoretinopathy 		0.010 GeneticVariation BEFREE Mutation Ala370Gly was also found in one sibling and one parent of the affected infant, but no signs of familial exudative vitreoretinopathy (FEVR), a condition with phenotypic overlap with ROP known to be caused by FZD4 mutations, were present in either family member. 20141357 2010