DisGeNET - a database of gene-disease associations

STARGARDT DISEASE 1 (disorder), C1855465

The Variant filter does not apply in GDA tabs

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

1.000

GeneticVariation

disease

CLINVAR

ABCA4 gene screening by next-generation sequencing in a British cohort.

23982839

2013

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

1.000

GeneticVariation

disease

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

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

1.000

GeneticVariation

disease

CLINVAR

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

16103129

2005

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

1.000

CausalMutation

disease

CLINVAR

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

16103129

2005

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

1.000

Biomarker

disease

MGD

Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following Vitamin A supplementation.

18515570

2008

Entrez Id:	2078
Gene Symbol:	ERG

ERG

0.030

Biomarker

disease

BEFREE

All the patients were evaluated by a standard ophthalmologic examination and OCT. ERG was performed on STGD and RP patients.

30285522

2018

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

1.000

GeneticVariation

disease

BEFREE

Although extensive genetic studies have identified more than 1000 mutations that cause STGD1 and related ABCA4-associated diseases, few studies have investigated the extent to which mutations affect the biochemical properties of ABCA4.

29847635

2018

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

1.000

Biomarker

disease

BEFREE

Although extrapolation to humans requires caution, the high transduction efficiency of both rod and cone photoreceptors and the statistically significant reduction of A2E accumulation in the mouse model of STGD1 suggest that lentiviral gene therapy is a potentially efficient tool for treating ABCA4-associated diseases.

18463687

2008

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

1.000

GeneticVariation

disease

UNIPROT

An analysis of allelic variation in the ABCA4 gene.

11328725

2001

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

1.000

CausalMutation

disease

CLINVAR

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.

25346251

2015

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

1.000

GeneticVariation

disease

CLINVAR

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.

25346251

2015

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

1.000

GeneticVariation

disease

CLINVAR

An informatics approach to analyzing the incidentalome.

22995991

2013

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

1.000

CausalMutation

disease

CLINVAR

Analysis of the ABCA4 gene by next-generation sequencing.

21911583

2011

Entrez Id:	2078
Gene Symbol:	ERG

ERG

0.030

Biomarker

disease

BEFREE

Anyhow, their ERG measurements indicated changes corresponding to STGD.

24453473

2014

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

1.000

GeneticVariation

disease

CLINVAR

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

18652558

2008

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

1.000

CausalMutation

disease

CLINVAR

Association between genotype and phenotype in families with mutations in the ABCA4 gene.

24453473

2014

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

1.000

CausalMutation

disease

CLINVAR

Associations of the G1961E and D2177N variants in ABCA4 and the risk of age-related macular degeneration.

25921964

2015

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

1.000

GeneticVariation

disease

CLINVAR

ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing.

29461686

2018

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

1.000

CausalMutation

disease

CLINVAR

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.

9466990

1998

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

1.000

GeneticVariation

disease

CLINVAR

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.

9466990

1998

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

1.000

GeneticVariation

disease

CLINVAR

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

23105016

2013

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

1.000

CausalMutation

disease

CLINVAR

Bilateral choroidal neovascularization associated with bilateral ABCA4 gene mutation.

21786275

2012

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

1.000

GeneticVariation

disease

CLINVAR

Biochemical defects in ABCR protein variants associated with human retinopathies.

11017087

2000

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

1.000

CausalMutation

disease

CLINVAR

Biochemical defects in ABCR protein variants associated with human retinopathies.

11017087

2000

Entrez Id:	24
Gene Symbol:	ABCA4

ABCA4

1.000

CausalMutation

disease

CLINVAR

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

11919200

2002