|
STARGARDT DISEASE 1 (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.830 |
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 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.
|
25283059 |
2015 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
Disease variants in genomes of 44 centenarians.
|
25333069 |
2014 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
|
24154662 |
2014 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.
|
24713488 |
2014 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
|
25082885 |
2014 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
Stargardt disease: towards developing a model to predict phenotype.
|
23695285 |
2013 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
Personalized genomic disease risk of volunteers.
|
24082139 |
2013 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4.
|
23144455 |
2012 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
|
22264887 |
2012 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
A map of human genome variation from population-scale sequencing.
|
20981092 |
2010 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation.
|
12192456 |
2002 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration.
|
11919200 |
2002 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
Biochemical defects in ABCR protein variants associated with human retinopathies.
|
11017087 |
2000 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.830 |
CausalMutation
|
CLINVAR |
Given an STGD incidence of 1/10,000, homozygosity for the 2588G-->C mutation or compound heterozygosity for this and other mild ABCR mutations probably does not result in an STGD phenotype.
|
10090887 |
1999 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.830 |
GeneticVariation
|
CLINVAR |
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
|
9054934 |
1997 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
CONE-ROD DYSTROPHY 3 (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Stargardt's disease
|
|
0.720 |
CausalMutation
|
CLINVAR |
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
|
25082885 |
2014 |
|
Stargardt's disease
|
|
0.720 |
CausalMutation
|
CLINVAR |
Stargardt disease: towards developing a model to predict phenotype.
|
23695285 |
2013 |
|
Stargardt's disease
|
|
0.720 |
CausalMutation
|
CLINVAR |
Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration.
|
11919200 |
2002 |
|
Stargardt's disease
|
|
0.720 |
CausalMutation
|
CLINVAR |
Biochemical defects in ABCR protein variants associated with human retinopathies.
|
11017087 |
2000 |
|
Stargardt's disease
|
|
0.720 |
CausalMutation
|
CLINVAR |
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.
|
10612508 |
1999 |
|
Stargardt's disease
|
|
0.720 |
CausalMutation
|
CLINVAR |
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 |