×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations.
23499370
2013
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
A map of human genome variation from population-scale sequencing.
20981092
2010
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
A map of human genome variation from population-scale sequencing.
20981092
2010
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus.
10509673
1999
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.
10612508
1999
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
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
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
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
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
20335603
2010
×
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
CausalMutation
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
ABCA4 gene screening by next-generation sequencing in a British cohort.
23982839
2013
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation.
23419329
2013
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
16103129
2005
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
16103129
2005
×
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
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
GeneticVariation
CLINVAR
An informatics approach to analyzing the incidentalome.
22995991
2013
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
CausalMutation
CLINVAR
Analysis of the ABCA4 gene by next-generation sequencing.
21911583
2011
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Are microarrays useful in the screening of ABCA4 mutations in Italian patients affected by macular degenerations?
18652558
2008
×
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
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
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
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.
9466990
1998
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.
9466990
1998
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
GeneticVariation
CLINVAR
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.
23105016
2013