DisGeNET - a database of gene-disease associations

STARGARDT DISEASE 1 (disorder), C1855465

Variant: rs201471607 ×

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:

rs201471607

ABCA4

0.810

CausalMutation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

30718709

2019

dbSNP:

rs201471607

ABCA4

0.810

GeneticVariation

BEFREE

On the basis of these studies we conclude that loss in substrate-dependent ATPase activity and protein misfolding are mechanisms underlying STGD1 associated with the p.Asn965Ser mutation in ABCA4.

29145636

2018

dbSNP:

rs201471607

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:

rs201471607

ABCA4

0.810

CausalMutation

CLINVAR

Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.

25356976

2015

dbSNP:

rs201471607

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:

rs201471607

ABCA4

0.810

CausalMutation

CLINVAR

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

24453473

2014

dbSNP:

rs201471607

ABCA4

0.810

CausalMutation

CLINVAR

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

24713488

2014

dbSNP:

rs201471607

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:

rs201471607

ABCA4

0.810

CausalMutation

CLINVAR

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.

22968130

2013

dbSNP:

rs201471607

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:

rs201471607

ABCA4

0.810

GeneticVariation

UNIPROT

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

11594993

2001

dbSNP:

rs201471607

ABCA4

0.810

GeneticVariation

UNIPROT

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

11385708

2001

dbSNP:

rs201471607

ABCA4

0.810

GeneticVariation

UNIPROT

An analysis of allelic variation in the ABCA4 gene.

11328725

2001

dbSNP:

rs201471607

ABCA4

0.810

GeneticVariation

UNIPROT

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

11527935

2001

dbSNP:

rs201471607

ABCA4

0.810

GeneticVariation

UNIPROT

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

10746567

2000

dbSNP:

rs201471607

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:

rs201471607

ABCA4

0.810

GeneticVariation

UNIPROT

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

10711710

2000

dbSNP:

rs201471607

ABCA4

0.810

GeneticVariation

UNIPROT

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

10634594

2000

dbSNP:

rs201471607

ABCA4

0.810

GeneticVariation

UNIPROT

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

10612508

1999

dbSNP:

rs201471607

ABCA4

0.810

GeneticVariation

UNIPROT

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

10206579

1999

dbSNP:

rs201471607

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:

rs201471607

ABCA4

0.810

GeneticVariation

UNIPROT

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

9973280

1999

dbSNP:

rs201471607

ABCA4

0.810

GeneticVariation

UNIPROT

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.

9781034

1998

dbSNP:

rs201471607

ABCA4

0.810

GeneticVariation

UNIPROT

Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease.

9490294

1998

dbSNP:

rs201471607

ABCA4

0.810

GeneticVariation

UNIPROT

Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.

9503029

1998