DisGeNET - a database of gene-disease associations

Exudative vitreoretinopathy 1, C1851402

Gene: FZD4 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs80358293

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity.

15733276

2005

dbSNP:

rs80358294

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.

15981244

2005

dbSNP:

rs80358294

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity.

15733276

2005

dbSNP:

rs80358284

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R).

15370539

2004

dbSNP:

rs80358284

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.

15223780

2004

dbSNP:

rs80358284

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.

15035989

2004

dbSNP:

rs80358284

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy.

15488808

2004

dbSNP:

rs80358292

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy.

15488808

2004

dbSNP:

rs80358292

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R).

15370539

2004

dbSNP:

rs80358292

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.

15035989

2004

dbSNP:

rs80358292

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.

15223780

2004

dbSNP:

rs80358293

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.

15223780

2004

dbSNP:

rs80358293

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R).

15370539

2004

dbSNP:

rs80358293

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy.

15488808

2004

dbSNP:

rs80358293

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.

15035989

2004

dbSNP:

rs80358294

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R).

15370539

2004

dbSNP:

rs80358294

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.

15035989

2004

dbSNP:

rs80358294

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy.

15488808

2004

dbSNP:

rs80358294

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.

15223780

2004

dbSNP:

rs80358284

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.

14507768

2003

dbSNP:

rs80358292

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.

14507768

2003

dbSNP:

rs80358293

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.

14507768

2003

dbSNP:

rs80358294

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.

14507768

2003

dbSNP:

rs80358284

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.

12172548

2002

dbSNP:

rs80358292

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.

12172548

2002