×
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
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing.
29461686
2018
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
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
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.
28181551
2017
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
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
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
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
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
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
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis.
26161775
2015
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
26047050
2015
×
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
CausalMutation
CLINVAR
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.
25356976
2015
×
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
CausalMutation
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
Clinical and molecular characteristics of childhood-onset Stargardt disease.
25312043
2015
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.
25346251
2015
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.
25472526
2015
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.
25283059
2015
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
Reduced macular function in ABCA4 carriers.
26261413
2015
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
Predicting Progression of ABCA4-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front.
26377081
2015
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.
25283059
2015
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.
25346251
2015
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
Associations of the G1961E and D2177N variants in ABCA4 and the risk of age-related macular degeneration.
25921964
2015
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.
25472526
2015