FZD4, frizzled class receptor 4, 8322

N. diseases: 239; N. variants: 28
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: C1851402
Disease:
Exudative vitreoretinopathy 1
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
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
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: rs80358293
rs80358293
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
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: rs80358294
rs80358294
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
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
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
0.800 GeneticVariation UNIPROT Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. 19324841 2009
dbSNP: rs80358284
rs80358284
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
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
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
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
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
0.800 GeneticVariation UNIPROT Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. 19324841 2009
dbSNP: rs80358293
rs80358293
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
0.800 GeneticVariation UNIPROT Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. 19324841 2009
dbSNP: rs80358293
rs80358293
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
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: rs80358294
rs80358294
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
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: rs80358294
rs80358294
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
0.800 GeneticVariation UNIPROT Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. 19324841 2009
dbSNP: rs80358284
rs80358284
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
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
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
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: rs80358293
rs80358293
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
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: rs80358294
rs80358294
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
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
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
0.800 GeneticVariation UNIPROT Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy. 17093393 2006
dbSNP: rs80358292
rs80358292
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
0.800 GeneticVariation UNIPROT Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy. 17093393 2006
dbSNP: rs80358293
rs80358293
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
0.800 GeneticVariation UNIPROT Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy. 17093393 2006
dbSNP: rs80358294
rs80358294
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
0.800 GeneticVariation UNIPROT Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy. 17093393 2006
dbSNP: rs80358284
rs80358284
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
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
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
0.800 GeneticVariation UNIPROT Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity. 15733276 2005
dbSNP: rs80358292
rs80358292
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
0.800 GeneticVariation UNIPROT Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity. 15733276 2005
dbSNP: rs80358292
rs80358292
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
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: rs80358293
rs80358293
Entrez Id: 8322;11098
Gene Symbol: FZD4;PRSS23
FZD4;PRSS23
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
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