FZD4, frizzled class receptor 4, 8322

N. diseases: 239; N. variants: 28
Disease: Exudative vitreoretinopathy 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 Biomarker disease GENOMICS_ENGLAND Familial exudative vitreoretinopathy presentation as persistent fetal vasculature. 28413837 2017
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		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
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 GeneticVariation disease UNIPROT Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. 19324841 2009
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		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
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		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
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 GeneticVariation disease UNIPROT Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy. 17093393 2006
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		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
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		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
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 GeneticVariation disease UNIPROT Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity. 15733276 2005
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 GeneticVariation disease UNIPROT Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R). 15370539 2004
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		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
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		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
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 GeneticVariation disease BEFREE This region contains LRP5 but not FZD4; mutations in both of these genes cause autosomal dominant FEVR. 15346351 2004
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 GeneticVariation disease UNIPROT Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. 15223780 2004
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		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
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 GeneticVariation disease UNIPROT Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. 15488808 2004
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 GeneticVariation disease UNIPROT Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. 14507768 2003
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 GeneticVariation disease UNIPROT Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. 12172548 2002
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 Biomarker disease CTD_human
CUI: C1851402
Disease: Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 1 		0.740 CausalMutation disease CLINVAR