×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
25412400
2015
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.
25712131
2015
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
[The molecular genetic and clinical findings in two probands with Stargardt disease].
25640233
2014
×
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
CausalMutation
CLINVAR
[Clinical characterization of the Stargardt disease and molecular exploration of the c.2041C>T mutation (ABCA4 gene) in Tunisian patients].
24342785
2014
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.
24713488
2014
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
24154662
2014
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
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
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Genetic and clinical analysis of ABCA4-associated disease in African American patients.
25066811
2014
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.
24713488
2014
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
23591405
2014
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
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
CausalMutation
CLINVAR
Association between genotype and phenotype in families with mutations in the ABCA4 gene.
24453473
2014
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
Disease variants in genomes of 44 centenarians.
25333069
2014
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
Homozygous c.1937+1G>A splice-site variant of the ABCA4 gene is associated with Stargardt disease.
24585425
2014
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
25097241
2014
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.
25544989
2014
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Multimodal imaging and multifocal electroretinography demonstrate autosomal recessive Stargardt disease may present like occult macular dystrophy.
24743636
2014
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
23591405
2014
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
25097241
2014
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
25087612
2014
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
25087612
2014
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
23755871
2013
×
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