|
Stargardt's disease
|
1.000 |
Biomarker
|
phenotype |
CTD_human |
|
|
|
|
Stargardt's disease
|
1.000 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
|
|
|
|
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
|
9295268 |
1997 |
|
Stargardt's disease
|
1.000 |
CausalMutation
|
phenotype |
CLINVAR |
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
|
9054934 |
1997 |
|
Stargardt's disease
|
1.000 |
CausalMutation
|
phenotype |
CLINVAR |
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
|
9295268 |
1997 |
|
Stargardt's disease
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
Stargardt disease (STGD, also known as fundus flavimaculatus; FFM) is an autosomal recessive retinal disorder characterized by a juvenile-onset macular dystrophy, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material.
|
9054934 |
1997 |
|
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
CLINVAR |
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
|
9054934 |
1997 |
|
Stargardt's disease
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
Further, RmP is identical to the protein recently shown to be affected in recessive Stargardt's disease.
|
9202155 |
1997 |
|
Stargardt's disease
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
Assuming pseudodominant (recessive) inheritance of allelic defects, linkage analysis positioned the causal gene at 1p21-p13 (lod score 4.22), a genomic segment known to harbor the ABCR gene involved in Stargardt's disease (STGD) and age-related macular degeneration (AMD).
|
9466990 |
1998 |
|
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
This brings the total number of independently identified mutations to 23, providing further evidence that the human ABCR gene is associated with Stargardt's disease.
|
9490294 |
1998 |
|
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
CLINVAR |
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.
|
9466990 |
1998 |
|
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the retina-specific ATP-binding cassette transporter gene (ABCR) cause recessive Stargardt's disease (STGD) and fundus flavimaculatus (FFM), and were also found in 16% of patients with AMD.
|
9810566 |
1998 |
|
Stargardt's disease
|
1.000 |
CausalMutation
|
phenotype |
CLINVAR |
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
|
9781034 |
1998 |
|
Stargardt's disease
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice.
|
10412977 |
1999 |
|
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
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 |
|
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
No other mutation has been identified in the entire coding sequence and the promoter region, suggesting that a heterozygous severe ABCR mutant may be responsible for a mild and delayed FFM phenotype, different from that of age-related macular degeneration.
|
10509673 |
1999 |
|
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Twenty-nine patients with Stargardt dystrophy or fundus flavimaculatus from different pedigrees were identified with possible disease-causing sequence variations in the ABCR gene from a group of 66 patients who were screened for sequence variations in this gene.
|
10206579 |
1999 |
|
Stargardt's disease
|
1.000 |
CausalMutation
|
phenotype |
CLINVAR |
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.
|
10612508 |
1999 |
|
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
In-depth knowledge of the ABCR mutation spectrum in patients with Stargardt disease will provide for more efficient screening and may provide potential therapies for Stargardt disease and other retinal diseases.
|
10612508 |
1999 |
|
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
CLINVAR |
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.
|
10612508 |
1999 |
|
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
A pedigree is described which manifests both Stargardt disease and AMD in which an ABCR mutation cosegregates with both disease phenotypes.
|
10396622 |
1999 |
|
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
CLINVAR |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |
|
Stargardt's disease
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus.
|
10874631 |
1999 |
|
Stargardt's disease
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
We speculate that the relatives of patients affected with Stargardt disease who are carriers of heterozygous ABCR gene mutations may have a higher risk of developing age-related macular degeneration.
|
10458172 |
1999 |
|
Stargardt's disease
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
The Stargardt disease gene (ABCR) has been proposed as a major genetic risk factor in AMD.
|
10442900 |
1999 |