×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Biochemical defects in ABCR protein variants associated with human retinopathies.
11017087
2000
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
22264887
2012
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
ABCA4 disease progression and a proposed strategy for gene therapy.
19074458
2009
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
23940504
2013
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.
23776498
2013
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
25082885
2014
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Fifty-six patients exhibiting the STGD /FFM phenotype, 6 with arRP, and 8 with arCRD, were screened for mutations in the 50 exons of the ABCR gene by heteroduplex analysis and direct sequencing.
10634594
2000
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
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
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Rescuing Trafficking Mutants of the ATP-binding Cassette Protein, ABCA4, with Small Molecule Correctors as a Treatment for Stargardt Eye Disease.
26092729
2015
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function.
23953153
2013
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
29925512
2019
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.
14517951
2003
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.
25698705
2015
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease.
17277736
2007
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population.
17982420
2007
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa.
11687513
2001
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.
19217903
2009
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.
23918662
2013
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.
10958761
2000
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Novel mutations in of the ABCR gene in Italian patients with Stargardt disease.
19265867
2010
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.
22025579
2011
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform.
16123440
2005
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.
11527935
2001
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.
15614537
2005
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
An informatics approach to analyzing the incidentalome.
22995991
2013