DisGeNET - a database of gene-disease associations

Stargardt's disease, C0271093

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:

rs1800553

ABCA4

0.730

CausalMutation

CLINVAR

G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.

19217903

2009

dbSNP:

rs1800553

ABCA4

0.730

CausalMutation

CLINVAR

Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.

22661473

2012

dbSNP:

rs1800553

ABCA4

0.730

CausalMutation

CLINVAR

To report genetic and phenotypic discordance across two generations of a family with autosomal recessive Stargardt disease (STGD1) and to compare pathogenicities of the G1961E and A1038V alleles of the ATP-binding cassette transporter, subfamily A, member 4 (ABCA4) gene.

22312191

2012

dbSNP:

rs1800553

ABCA4

0.730

CausalMutation

CLINVAR

ABCA4 disease progression and a proposed strategy for gene therapy.

19074458

2009

dbSNP:

rs1800553

ABCA4

0.730

CausalMutation

CLINVAR

ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.

16103129

2005

dbSNP:

rs1800553

ABCA4

0.730

CausalMutation

CLINVAR

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.

9295268

1997

dbSNP:

rs1800553

ABCA4

0.730

CausalMutation

CLINVAR

Biochemical defects in ABCR protein variants associated with human retinopathies.

11017087

2000

dbSNP:

rs1800553

ABCA4

0.730

CausalMutation

CLINVAR

High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.

22025579

2011

dbSNP:

rs1800553

ABCA4

0.730

CausalMutation

CLINVAR

Loss of peripapillary sparing in non-group I Stargardt disease.

20696155

2010

dbSNP:

rs76157638

ABCA4

0.720

CausalMutation

CLINVAR

Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.

25082885

2014

dbSNP:

rs76157638

ABCA4

0.720

CausalMutation

CLINVAR

A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.

10612508

1999

dbSNP:

rs76157638

ABCA4

0.720

CausalMutation

CLINVAR

Stargardt disease: towards developing a model to predict phenotype.

23695285

2013

dbSNP:

rs76157638

ABCA4

0.720

CausalMutation

CLINVAR

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

9054934

1997

dbSNP:

rs76157638

ABCA4

0.720

CausalMutation

CLINVAR

Biochemical defects in ABCR protein variants associated with human retinopathies.

11017087

2000

dbSNP:

rs76157638

ABCA4

0.720

CausalMutation

CLINVAR

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.

10090887

1999

dbSNP:

rs76157638

ABCA4

0.720

CausalMutation

CLINVAR

Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration.

11919200

2002

dbSNP:

rs760549861

ABCA4

0.710

CausalMutation

CLINVAR

Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation.

29422768

2018

dbSNP:

rs760549861

ABCA4

0.710

CausalMutation

CLINVAR

Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.

25283059

2015

dbSNP:

rs760549861

ABCA4

0.710

CausalMutation

CLINVAR

Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.

28130426

2017

dbSNP:

rs760549861

ABCA4

0.710

CausalMutation

CLINVAR

Are microarrays useful in the screening of ABCA4 mutations in Italian patients affected by macular degenerations?

18652558

2008

dbSNP:

rs760549861

ABCA4

0.710

CausalMutation

CLINVAR

ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation.

23419329

2013

dbSNP:

rs760549861

ABCA4

0.710

CausalMutation

CLINVAR

Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications.

23143460

2012

dbSNP:

rs28938473

ABCA4

0.700

CausalMutation

CLINVAR

dbSNP:

rs61750138

ABCA4

0.700

CausalMutation

CLINVAR

dbSNP:

rs61751392

ABCA4

0.700

CausalMutation

CLINVAR

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

28041643

2017