Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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: 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: 79797
Gene Symbol: ZNF408
ZNF408 		0.310 GeneticVariation disease BEFREE A missense mutation in ZNF408 (p.H455Y) was reported to underlie autosomal dominant FEVR in a large Dutch family, and ZNF408 was shown to play a role in the development of vasculature. 29982478 2018
Entrez Id: 23554
Gene Symbol: TSPAN12
TSPAN12 		0.110 GeneticVariation disease BEFREE Here, we report that mutations in TSPAN12 also cause autosomal-dominant FEVR. 20159112 2010
Entrez Id: 8322
Gene Symbol: FZD4
FZD4 		0.740 CausalMutation disease CLINVAR
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 CausalMutation disease CLINVAR
Entrez Id: 23554
Gene Symbol: TSPAN12
TSPAN12 		0.110 GeneticVariation disease CLINVAR
Entrez Id: 11098
Gene Symbol: PRSS23
PRSS23 		0.100 CausalMutation disease CLINVAR
Entrez Id: 8322
Gene Symbol: FZD4
FZD4 		0.740 Biomarker disease CTD_human
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
Entrez Id: 79797
Gene Symbol: ZNF408
ZNF408 		0.310 GermlineCausalMutation disease ORPHANET
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 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 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 Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. 12172548 2002
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 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 Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. 15223780 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