rs1800553
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
T
0.830
CausalMutation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
rs76157638
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
G
0.830
CausalMutation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
rs1800553
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
T
0.830
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
rs76157638
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
G
0.830
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
rs1800553
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
T
0.830
CausalMutation
CLINVAR
Associations of the G1961E and D2177N variants in ABCA4 and the risk of age-related macular degeneration.
25921964
2015
rs76157638
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
G
0.830
CausalMutation
CLINVAR
Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.
25283059
2015
rs1800553
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
T
0.830
CausalMutation
CLINVAR
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
25097241
2014
rs1800553
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
T
0.830
CausalMutation
CLINVAR
[The molecular genetic and clinical findings in two probands with Stargardt disease].
25640233
2014
rs1800553
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
T
0.830
CausalMutation
CLINVAR
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
25082885
2014
rs1800553
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
T
0.830
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
rs76157638
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
G
0.830
CausalMutation
CLINVAR
Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.
24713488
2014
rs76157638
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
G
0.830
CausalMutation
CLINVAR
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
24154662
2014
rs76157638
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
G
0.830
CausalMutation
CLINVAR
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
25082885
2014
rs76157638
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
G
0.830
CausalMutation
CLINVAR
Disease variants in genomes of 44 centenarians.
25333069
2014
rs76157638
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
0.830
GeneticVariation
UNIPROT
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.
24444108
2014
rs1800553
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
T
0.830
CausalMutation
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
rs76157638
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
G
0.830
CausalMutation
CLINVAR
Personalized genomic disease risk of volunteers.
24082139
2013
rs76157638
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
G
0.830
CausalMutation
CLINVAR
Stargardt disease: towards developing a model to predict phenotype.
23695285
2013
rs76157638
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
0.830
GeneticVariation
UNIPROT
Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.
24097981
2013
rs1800553
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
T
0.830
CausalMutation
CLINVAR
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.
22661473
2012
rs1800553
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
0.830
GeneticVariation
BEFREE
To report genetic and phenotypic discordance across two generations of a family with autosomal recessive Stargardt disease (STGD1 ) and to compare pathogenicities of the G1961E and A1038V alleles of the ATP-binding cassette transporter, subfamily A, member 4 (ABCA4) gene.
22312191
2012
rs1800553
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
0.830
GeneticVariation
BEFREE
The G1961E mutation was more frequent in the patients without extensive loss of IS/OS junction (P = 0.01) confirming its association with a milder STGD phenotype.
22661472
2012
rs1800553
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
T
0.830
CausalMutation
CLINVAR
Bilateral choroidal neovascularization associated with bilateral ABCA4 gene mutation.
21786275
2012
rs1800553
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
T
0.830
CausalMutation
CLINVAR
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
22264887
2012
rs76157638
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
G
0.830
CausalMutation
CLINVAR
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
22264887
2012