|
Macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Stargardt disease (STGD1, OMIM 248200) is a common hereditary juvenile or early adult onset macular degeneration.
|
30563929 |
2019 |
|
Macular degeneration
|
0.200 |
Biomarker
|
disease |
BEFREE |
Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.
|
29310964 |
2018 |
|
Macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Stargardt disease, type 1 (STGD1) or macular degeneration with flecks, STGD1 represents a disease with early onset, central visual impairment, frequent appearance of yellowish flecks and mutations in the ATP-binding cassette subfamily A, member 4 (ABCA4) gene.
|
29461686 |
2018 |
|
Macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Stargardt disease (STGD1), due to mutations in the large ABCA4 gene, is the most common inherited macular degeneration in humans.
|
29188512 |
2018 |
|
Macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Stargardt disease (STGD1) due to mutations in the large ABCA4 gene is the most common inherited macular degeneration in humans.
|
26420842 |
2015 |
|
Macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The commonest genetic form of juvenile or early adult onset macular degeneration is Stargardt Disease (STGD) caused by recessive mutations in the gene ABCA4.
|
22863181 |
2012 |
|
Macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The retina-specific ATP binding cassette transporter, ABCA4 protein, is associated with a broad range of inherited macular degenerations, including Stargardt disease, autosomal recessive cone rod dystrophy, and fundus flavimaculatus.
|
23144455 |
2012 |
|
Macular degeneration
|
0.200 |
Biomarker
|
disease |
BEFREE |
Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration.
|
22948568 |
2012 |
|
Macular degeneration
|
0.200 |
Biomarker
|
disease |
BEFREE |
ATP-binding cassette transporter ABCA4: molecular properties and role in vision and macular degeneration.
|
17994272 |
2007 |
|
Macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the retina-specific ABC transporter (ABCA4) gene are associated with different types of macular degeneration, including Stargardt disease, cone-rod dystrophy, Fundus flavimaculatus, Retinitis pigmentosa and probably age-related macular degeneration.
|
16681420 |
2006 |
|
Macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the retina-specific ABC transporter (ABCA4) gene have been associated with several forms of macular degenerations.
|
15192030 |
2004 |
|
Macular degeneration
|
0.200 |
Biomarker
|
disease |
BEFREE |
Since the retina is highly sensitive to peroxidation and the GPX gene product protects cells from oxidative damage, and the fact that the ABCR gene is considered as a major disease gene in macular degeneration we reasoned that they might serve as candidate genes in a subset of ARMD cases.
|
15375613 |
2004 |
|
Macular degeneration
|
0.200 |
Biomarker
|
disease |
BEFREE |
The precursors of A2E identified in this study may represent pharmacological targets for the treatment of ABCR-mediated macular degeneration.
|
10852960 |
2000 |
|
Macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The ABCR gene in recessive and dominant Stargardt diseases: a genetic pathway in macular degeneration.
|
10486215 |
1999 |
|
Macular degeneration
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Macular degeneration
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|