FZD4, frizzled class receptor 4, 8322

N. diseases: 15; N. variants: 20
Source: CURATED ×
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 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 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 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: C0035344
Disease: Retinopathy of Prematurity
Retinopathy of Prematurity 		0.450 SusceptibilityMutation disease ORPHANET To address the possibility of genetic involvement of FEVR genes in ROP, we performed comprehensive sequence analyses of 53 Japanese patients with advanced ROP for the FEVR-causing genes. 23441120 2013
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.330 Biomarker group CTD_human Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement. 17103440 2006
CUI: C0266568
Disease: Persistent Hyperplastic Primary Vitreous
Persistent Hyperplastic Primary Vitreous 		0.320 GermlineCausalMutation disease ORPHANET Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees. 19172507 2009
CUI: C0266568
Disease: Persistent Hyperplastic Primary Vitreous
Persistent Hyperplastic Primary Vitreous 		0.320 GermlineCausalMutation disease ORPHANET In a limited number of cases, Norrie disease and FZD4 genes are found to be mutated in unilateral and bilateral PHPV. 20092598 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.320 GeneticVariation disease UNIPROT
CUI: C1857299
Disease: RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL
RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL 		0.310 GermlineCausalMutation disease ORPHANET Persistent hyperplastic primary vitreous: congenital malformation of the eye. 20092598 2009
CUI: C1857299
Disease: RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL
RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL 		0.310 GermlineCausalMutation disease ORPHANET Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees. 19172507 2009
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.310 Biomarker disease PSYGENET GPR50 is an orphan G protein-coupled receptor (GPCR) located on Xq28, a region previously implicated in multiple genetic studies of bipolar affective disorder (BPAD). 15452587 2005
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2 		0.310 Biomarker disease PSYGENET GPR50 is an orphan G protein-coupled receptor (GPCR) located on Xq28, a region previously implicated in multiple genetic studies of bipolar affective disorder (BPAD). 15452587 2005
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND Familial exudative vitreoretinopathy presentation as persistent fetal vasculature. 28413837 2017