DisGeNET - a database of gene-disease associations

STARGARDT DISEASE 1 (disorder), C1855465

Variant: rs61751402 ×

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:

rs61751402

ABCA4

0.810

CausalMutation

CLINVAR

Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

28118664

2017

dbSNP:

rs61751402

ABCA4

0.810

CausalMutation

CLINVAR

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

25472526

2015

dbSNP:

rs61751402

ABCA4

0.810

CausalMutation

CLINVAR

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

25082885

2014

dbSNP:

rs61751402

ABCA4

0.810

CausalMutation

CLINVAR

Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

25097241

2014

dbSNP:

rs61751402

ABCA4

0.810

GeneticVariation

UNIPROT

Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.

24444108

2014

dbSNP:

rs61751402

ABCA4

0.810

CausalMutation

CLINVAR

Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.

24713488

2014

dbSNP:

rs61751402

ABCA4

0.810

GeneticVariation

UNIPROT

Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.

24097981

2013

dbSNP:

rs61751402

ABCA4

0.810

CausalMutation

CLINVAR

Stargardt disease: towards developing a model to predict phenotype.

23695285

2013

dbSNP:

rs61751402

ABCA4

0.810

GeneticVariation

UNIPROT

Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.

18977788

2009

dbSNP:

rs61751402

ABCA4

0.810

CausalMutation

CLINVAR

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

16103129

2005

dbSNP:

rs61751402

ABCA4

0.810

GeneticVariation

BEFREE

There seems to be at least two different origins for the common C1490Y mutation, as well as two for the R602W mutation, thereby suggesting several founder effects for STGD in SA.

15161829

2004

dbSNP:

rs61751402

ABCA4

0.810

GeneticVariation

UNIPROT

An analysis of allelic variation in the ABCA4 gene.

11328725

2001

dbSNP:

rs61751402

ABCA4

0.810

GeneticVariation

UNIPROT

Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).

11594993

2001

dbSNP:

rs61751402

ABCA4

0.810

GeneticVariation

UNIPROT

Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.

11527935

2001

dbSNP:

rs61751402

ABCA4

0.810

GeneticVariation

UNIPROT

Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.

11385708

2001

dbSNP:

rs61751402

ABCA4

0.810

GeneticVariation

UNIPROT

New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.

10711710

2000

dbSNP:

rs61751402

ABCA4

0.810

GeneticVariation

UNIPROT

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

10958763

2000

dbSNP:

rs61751402

ABCA4

0.810

CausalMutation

CLINVAR

Biochemical defects in ABCR protein variants associated with human retinopathies.

11017087

2000

dbSNP:

rs61751402

ABCA4

0.810

GeneticVariation

UNIPROT

Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.

10746567

2000

dbSNP:

rs61751402

ABCA4

0.810

GeneticVariation

UNIPROT

An analysis of ABCR mutations in British patients with recessive retinal dystrophies.

10634594

2000

dbSNP:

rs61751402

ABCA4

0.810

GeneticVariation

UNIPROT

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:

rs61751402

ABCA4

0.810

CausalMutation

CLINVAR

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

9973280

1999

dbSNP:

rs61751402

ABCA4

0.810

GeneticVariation

UNIPROT

Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.

10206579

1999

dbSNP:

rs61751402

ABCA4

0.810

GeneticVariation

CLINVAR

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

9973280

1999

dbSNP:

rs61751402

ABCA4

0.810

GeneticVariation

UNIPROT

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

10612508

1999