×
Entrez Id:
8322
Gene Symbol:
FZD4
FZD4
0.740
Biomarker
disease
GENOMICS_ENGLAND
Familial exudative vitreoretinopathy presentation as persistent fetal vasculature.
28413837
2017
×
Entrez Id:
8322
Gene Symbol:
FZD4
FZD4
0.740
GeneticVariation
disease
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
0.740
GeneticVariation
disease
UNIPROT
Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.
19324841
2009
×
Entrez Id:
8322
Gene Symbol:
FZD4
FZD4
0.740
GeneticVariation
disease
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
0.740
GeneticVariation
disease
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
0.740
GeneticVariation
disease
UNIPROT
Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy.
17093393
2006
×
Entrez Id:
8322
Gene Symbol:
FZD4
FZD4
0.740
GeneticVariation
disease
BEFREE
Our patient's findings suggest that haploinsufficiency of the FZD4 gene product can also be a disease-causing mechanism for EVR1 .
17103440
2006
×
Entrez Id:
8322
Gene Symbol:
FZD4
FZD4
0.740
GeneticVariation
disease
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
0.740
GeneticVariation
disease
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
0.740
GeneticVariation
disease
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
0.740
GeneticVariation
disease
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
0.740
GeneticVariation
disease
BEFREE
We encountered three Japanese patients with adFEVR and studied them using mutation analysis of the FZD4 gene with PCR, sequencing, and a restriction enzyme digestion.
15370539
2004
×
Entrez Id:
8322
Gene Symbol:
FZD4
FZD4
0.740
GeneticVariation
disease
BEFREE
This region contains LRP5 but not FZD4 ; mutations in both of these genes cause autosomal dominant FEVR .
15346351
2004
×
Entrez Id:
8322
Gene Symbol:
FZD4
FZD4
0.740
GeneticVariation
disease
UNIPROT
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
15223780
2004
×
Entrez Id:
8322
Gene Symbol:
FZD4
FZD4
0.740
GeneticVariation
disease
BEFREE
In some cases of autosomal dominant FEVR (AD FEVR), mutations in the frizzled-4 gene (FZD-4 ) have been shown to be involved in FEVR pathology.
14560311
2004
×
Entrez Id:
8322
Gene Symbol:
FZD4
FZD4
0.740
GeneticVariation
disease
UNIPROT
Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy.
15488808
2004
×
Entrez Id:
8322
Gene Symbol:
FZD4
FZD4
0.740
GeneticVariation
disease
UNIPROT
Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.
14507768
2003
×
Entrez Id:
8322
Gene Symbol:
FZD4
FZD4
0.740
GeneticVariation
disease
UNIPROT
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.
12172548
2002
×
Entrez Id:
8322
Gene Symbol:
FZD4
FZD4
0.740
Biomarker
disease
CTD_human
×
Entrez Id:
8322
Gene Symbol:
FZD4
FZD4
0.740
CausalMutation
disease
CLINVAR
×
Entrez Id:
4041
Gene Symbol:
LRP5
LRP5
0.520
GeneticVariation
disease
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
0.520
GeneticVariation
disease
BEFREE
Autosomal dominant FEVR (adFEVR ), a major form of FEVR and assigned to chromosome 11q13-23 (EVR1 ) locus, is caused by deletion mutations in the C- terminal region of the frizzled-4 (FZD4) gene.
15370539
2004
×
Entrez Id:
4041
Gene Symbol:
LRP5
LRP5
0.520
GeneticVariation
disease
BEFREE
This region contains LRP5 but not FZD4; mutations in both of these genes cause autosomal dominant FEVR .
15346351
2004
×
Entrez Id:
4041
Gene Symbol:
LRP5
LRP5
0.520
Biomarker
disease
CTD_human
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
0.400
GermlineCausalMutation
disease
ORPHANET
Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.
28575650
2017