×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
CausalMutation
group
CLINVAR
Clinical and molecular characteristics of childhood-onset Stargardt disease.
25312043
2015
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
GeneticVariation
group
BEFREE
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy .
24444108
2014
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
CausalMutation
group
CLINVAR
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
10958763
2000
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
GeneticVariation
group
CLINVAR
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
9973280
1999
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
GeneticVariation
group
CLINVAR
Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy.
22229821
2012
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
GeneticVariation
group
CLINVAR
ABCA4 gene screening by next-generation sequencing in a British cohort.
23982839
2013
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
GeneticVariation
group
BEFREE
Most patients harbored at least one mutation classified as "severe," the most common of which was the p.N965S variant that had been found previously at a high frequency among patients with ABCA4 -associated retinal dystrophies in Denmark.
24713488
2014
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
GeneticVariation
group
CLINVAR
Genetic and clinical analysis of ABCA4-associated disease in African American patients.
25066811
2014
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
Biomarker
group
BEFREE
Lipofuscin- and melanin-related fundus autofluorescence in patients with ABCA4 -associated retinal dystrophies .
19243736
2009
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
GeneticVariation
group
CLINVAR
Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).
11594993
2001
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
CausalMutation
group
CLINVAR
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
26872967
2016
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
Biomarker
group
BEFREE
ABCA4 -associated disease, a recessive retinal dystrophy , is hallmarked by a large proportion of patients with only one pathogenic ABCA4 variant, suggestive for missing heritability.
30670881
2019
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
Biomarker
group
BEFREE
Based on recent studies of the photoreceptor-specific ABC transporter gene ABCR (ABCA4 ) in Stargardt disease (STGD1) and other retinal dystrophies , we and others have developed a model in which the severity of retinal disease correlates inversely with residual ABCR activity.
11379881
2001
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
GeneticVariation
group
CLINVAR
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
9054934
1997
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
CausalMutation
group
CLINVAR
Analysis of the ABCA4 gene by next-generation sequencing.
21911583
2011
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
GeneticVariation
group
CLINVAR
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.
23918662
2013
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
GeneticVariation
group
BEFREE
In this study, we demonstrate the spectrum of retinal dystrophies associated with ABCA4 gene mutations.
15614537
2005
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
CausalMutation
group
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
GeneticVariation
group
CLINVAR
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
10958763
2000
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
GeneticVariation
group
BEFREE
Next-generation sequencing of ABCA4 : High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.
26593885
2016
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
GeneticVariation
group
BEFREE
Subsequent studies have shown that mutations in ABCA4 can also cause a variety of other retinal dystrophies including cone rod dystrophy and retinitis pigmentosa.
18285826
2008
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
GeneticVariation
group
BEFREE
Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant.
25363634
2015
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
CausalMutation
group
CLINVAR
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).
11379881
2001
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
GeneticVariation
group
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
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.200
GeneticVariation
group
CLINVAR
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
9781034
1998