Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 Biomarker GENOMICS_ENGLAND Familial exudative vitreoretinopathy presentation as persistent fetal vasculature. 28413837

2017
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 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
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 GeneticVariation UNIPROT Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. 19324841

2009
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 GeneticVariation UNIPROT Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees. 19172507

2009
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 GeneticVariation UNIPROT Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy. 17955262

2008
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 GeneticVariation UNIPROT Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy. 17093393

2006
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 GeneticVariation UNIPROT Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. 15981244

2005
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 GeneticVariation UNIPROT Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity. 15733276

2005
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 GeneticVariation UNIPROT Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R). 15370539

2004
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 GeneticVariation UNIPROT Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. 15035989

2004
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 GeneticVariation UNIPROT Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. 15223780

2004
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 GeneticVariation UNIPROT Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. 15488808

2004
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 GeneticVariation UNIPROT Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. 14507768

2003
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 GeneticVariation UNIPROT Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. 12172548

2002
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 Biomarker CTD_human

Entrez Id: 4041
Gene Symbol: LRP5
LRP5
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.520 GeneticVariation UNIPROT Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy. 27228167

2016
Entrez Id: 4041
Gene Symbol: LRP5
LRP5
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.520 Biomarker CTD_human

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.400 GermlineCausalMutation ORPHANET Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 28575650

2017
Entrez Id: 79797
Gene Symbol: ZNF408
ZNF408
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.310 GermlineCausalMutation ORPHANET