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: rs80358284
rs80358284
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C0339539
Disease:
Familial Exudative Vitreoretinopathy 		C 0.700 CausalMutation CLINVAR Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients. 27316669 2016
dbSNP: rs80358284
rs80358284
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C0339539
Disease:
Familial Exudative Vitreoretinopathy 		C 0.700 CausalMutation CLINVAR Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients. 25711638 2015
dbSNP: rs80358284
rs80358284
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C0339539
Disease:
Familial Exudative Vitreoretinopathy 		C 0.700 CausalMutation CLINVAR Identification of the cellular mechanisms that modulate trafficking of frizzled family receptor 4 (FZD4) missense mutants associated with familial exudative vitreoretinopathy. 24744206 2014
dbSNP: rs80358284
rs80358284
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C0339539
Disease:
Familial Exudative Vitreoretinopathy 		C 0.700 CausalMutation CLINVAR Novel frizzled-4 gene mutations in chinese patients with familial exudative vitreoretinopathy. 20938005 2010
dbSNP: rs80358284
rs80358284
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C0339539
Disease:
Familial Exudative Vitreoretinopathy 		C 0.700 CausalMutation CLINVAR Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. 20340138 2010
dbSNP: rs80358284
rs80358284
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C0339539
Disease:
Familial Exudative Vitreoretinopathy 		C 0.700 CausalMutation CLINVAR Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. 15035989 2004
dbSNP: rs80358284
rs80358284
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C0339539
Disease:
Familial Exudative Vitreoretinopathy 		C 0.700 CausalMutation CLINVAR Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. 14507768 2003