Gene: FZD4 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358284
rs80358284
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy. 17093393

2006
dbSNP: rs80358284
rs80358284
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. 14507768

2003
dbSNP: rs80358284
rs80358284
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R). 15370539

2004
dbSNP: rs80358284
rs80358284
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. 15981244

2005
dbSNP: rs80358284
rs80358284
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity. 15733276

2005
dbSNP: rs80358284
rs80358284
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. 19324841

2009
dbSNP: rs80358284
rs80358284
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. 15223780

2004
dbSNP: rs80358284
rs80358284
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees. 19172507

2009
dbSNP: rs80358284
rs80358284
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy. 17955262

2008
dbSNP: rs80358284
rs80358284
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT 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
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. 15488808

2004
dbSNP: rs80358284
rs80358284
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT 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
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. 12172548

2002
dbSNP: rs80358292
rs80358292
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. 15488808

2004
dbSNP: rs80358292
rs80358292
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees. 19172507

2009
dbSNP: rs80358292
rs80358292
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. 12172548

2002
dbSNP: rs80358292
rs80358292
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R). 15370539

2004
dbSNP: rs80358292
rs80358292
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. 15035989

2004
dbSNP: rs80358292
rs80358292
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity. 15733276

2005
dbSNP: rs80358292
rs80358292
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT 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: rs80358292
rs80358292
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. 15981244

2005
dbSNP: rs80358292
rs80358292
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. 15223780

2004
dbSNP: rs80358292
rs80358292
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. 19324841

2009
dbSNP: rs80358292
rs80358292
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy. 17955262

2008
dbSNP: rs80358292
rs80358292
FZD4 ; PRSS23
0.800 GeneticVariation UNIPROT Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy. 17093393

2006