rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
|
10958763 |
2000 |
rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.
|
10612508 |
1999 |
rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
A |
0.820 |
GeneticVariation
|
CLINVAR |
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
|
9054934 |
1997 |
rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
A |
0.820 |
CausalMutation
|
CLINVAR |
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
|
9054934 |
1997 |
rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
|
9054934 |
1997 |
rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
A |
0.820 |
CausalMutation
|
CLINVAR |
ABCA4 disease progression and a proposed strategy for gene therapy.
|
19074458 |
2009 |
rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
A |
0.820 |
CausalMutation
|
CLINVAR |
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
|
16103129 |
2005 |
rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
|
0.820 |
GeneticVariation
|
UNIPROT |
An analysis of ABCR mutations in British patients with recessive retinal dystrophies.
|
10634594 |
2000 |
rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
|
0.820 |
GeneticVariation
|
UNIPROT |
An analysis of allelic variation in the ABCA4 gene.
|
11328725 |
2001 |
rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.
|
9466990 |
1998 |
rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
|
0.820 |
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 |
rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.
|
10746567 |
2000 |
rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).
|
11594993 |
2001 |
rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.
|
24097981 |
2013 |
rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus.
|
15579991 |
2004 |
rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
|
18977788 |
2009 |
rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
A |
0.820 |
CausalMutation
|
CLINVAR |
G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.
|
19217903 |
2009 |
rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |
rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
|
0.820 |
GeneticVariation
|
BEFREE |
In order to further understand the contribution of this gene to the susceptibility to STGD and RP, we analyzed three unrelated STGD families and one autosomal recessive RP family specifically for the more common variants (A1038V, G1961E, 2588G-->C, R943Q or 2828G-->A) in the ABCA4 gene.
|
18506364 |
2008 |
rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).
|
11379881 |
2001 |
rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
|
0.820 |
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 |
rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
A |
0.820 |
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 |
rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.
|
11527935 |
2001 |
rs61751374
|
|
STARGARDT DISEASE 1 (disorder)
|
|
0.820 |
GeneticVariation
|
UNIPROT |
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.
|
10711710 |
2000 |