DisGeNET - a database of gene-disease associations

Exudative vitreoretinopathy 1, C1851402

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:

rs80358284

FZD4 ; PRSS23

0.800

GeneticVariation

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

dbSNP:

rs80358292

FZD4 ; PRSS23

0.800

GeneticVariation

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

dbSNP:

rs80358293

FZD4 ; PRSS23

0.800

GeneticVariation

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

dbSNP:

rs80358294

FZD4 ; PRSS23

0.800

GeneticVariation

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

dbSNP:

rs80358284

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.

19324841

2009

dbSNP:

rs80358284

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees.

19172507

2009

dbSNP:

rs80358292

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees.

19172507

2009

dbSNP:

rs80358292

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.

19324841

2009

dbSNP:

rs80358293

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.

19324841

2009

dbSNP:

rs80358293

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees.

19172507

2009

dbSNP:

rs80358294

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees.

19172507

2009

dbSNP:

rs80358294

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.

19324841

2009

dbSNP:

rs80358284

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.

17955262

2008

dbSNP:

rs80358292

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.

17955262

2008

dbSNP:

rs80358293

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.

17955262

2008

dbSNP:

rs80358294

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.

17955262

2008

dbSNP:

rs80358284

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy.

17093393

2006

dbSNP:

rs80358292

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy.

17093393

2006

dbSNP:

rs80358293

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy.

17093393

2006

dbSNP:

rs80358294

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy.

17093393

2006

dbSNP:

rs80358284

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:

rs80358284

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

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

15733276

2005

dbSNP:

rs80358292

FZD4 ; PRSS23

0.800

GeneticVariation

UNIPROT

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

15733276

2005

dbSNP:

rs80358292

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:

rs80358293

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