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: rs139401671
rs139401671
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 GeneticVariation UNIPROT Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. 14507768 2003
dbSNP: rs139401671
rs139401671
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 GeneticVariation UNIPROT Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. 15488808 2004
dbSNP: rs139401671
rs139401671
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 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: rs139401671
rs139401671
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 GeneticVariation UNIPROT Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy. 17955262 2008
dbSNP: rs139401671
rs139401671
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 GeneticVariation UNIPROT Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. 12172548 2002
dbSNP: rs139401671
rs139401671
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 GeneticVariation UNIPROT Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. 15223780 2004
dbSNP: rs139401671
rs139401671
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 GeneticVariation UNIPROT Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R). 15370539 2004
dbSNP: rs139401671
rs139401671
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 GeneticVariation UNIPROT Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. 15981244 2005
dbSNP: rs139401671
rs139401671
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 GeneticVariation UNIPROT Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity. 15733276 2005
dbSNP: rs139401671
rs139401671
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 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: rs139401671
rs139401671
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 GeneticVariation UNIPROT Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. 19324841 2009
dbSNP: rs139401671
rs139401671
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 GeneticVariation UNIPROT Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy. 17093393 2006
dbSNP: rs139401671
rs139401671
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 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: rs61735304
rs61735304
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 GeneticVariation UNIPROT Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. 19324841 2009
dbSNP: rs61735304
rs61735304
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 GeneticVariation UNIPROT Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity. 15733276 2005
dbSNP: rs61735304
rs61735304
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 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: rs61735304
rs61735304
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 GeneticVariation UNIPROT Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy. 17955262 2008
dbSNP: rs61735304
rs61735304
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 GeneticVariation UNIPROT Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. 15981244 2005
dbSNP: rs61735304
rs61735304
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 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: rs61735304
rs61735304
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 GeneticVariation UNIPROT Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. 14507768 2003
dbSNP: rs61735304
rs61735304
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 GeneticVariation UNIPROT Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy. 17093393 2006
dbSNP: rs61735304
rs61735304
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 GeneticVariation UNIPROT Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R). 15370539 2004
dbSNP: rs61735304
rs61735304
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 GeneticVariation UNIPROT Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. 12172548 2002
dbSNP: rs61735304
rs61735304
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 GeneticVariation UNIPROT Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. 15223780 2004
dbSNP: rs61735304
rs61735304
Entrez Id: 8322;100506368
Gene Symbol: FZD4;FZD4-DT
FZD4;FZD4-DT
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1 		0.700 GeneticVariation UNIPROT Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. 15488808 2004