|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.
|
9503029 |
1998 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
|
16103129 |
2005 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.
|
24444108 |
2014 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.
|
28181551 |
2017 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
Biomarker
|
disease |
MGD |
Retinol dehydrogenase (RDH12) protects photoreceptors from light-induced degeneration in mice.
|
17032653 |
2006 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.
|
22328824 |
2012 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
|
24265693 |
2013 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
|
23591405 |
2014 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene.
|
22427542 |
2012 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.
|
11385708 |
2001 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.
|
10958761 |
2000 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
|
10958763 |
2000 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Biochemical defects in ABCR protein variants associated with human retinopathies.
|
11017087 |
2000 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.
|
19217903 |
2009 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
|
23755871 |
2013 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Loss of peripapillary sparing in non-group I Stargardt disease.
|
20696155 |
2010 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
ABCA4 disease progression and a proposed strategy for gene therapy.
|
19074458 |
2009 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.
|
11385708 |
2001 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
|
22264887 |
2012 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
|
25082885 |
2014 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
|
25097241 |
2014 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
|
9781034 |
1998 |
|
CONE-ROD DYSTROPHY 3 (disorder)
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|