Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 AlteredExpression phenotype BEFREE The ECO/pRHO-ABCA4 nanoparticles induced substantial and specific ABCA4 expression for at least 8 months, 35% reduction in A2E accumulation on average, and a delayed Stargardt disease progression for at least 6 months in Abca4<sup>-/-</sup> mice. 31611143 2020
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 GeneticVariation phenotype BEFREE Stargardt disease (STGD1, OMIM 248200) is a common hereditary juvenile or early adult onset macular degeneration. 30563929 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 GeneticVariation phenotype BEFREE CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION. 30204727 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 GeneticVariation phenotype BEFREE Stargardt disease (On-Line Mendelian Inheritance In Man 242000, STGD1) is the most common inherited macular dystrophy. 31318848 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 GeneticVariation phenotype BEFREE RDs included: Stargardt disease (STGD1;20 patients), central areolar choroidal dystrophy (CACD; 7 patients), mitochondrial retinal dystrophy (MRD; 6 patients), pseudo-Stargardt pattern dystrophy (PSPD; 3 patients). 31398255 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 GeneticVariation phenotype BEFREE To investigate the role of two deep-intronic ABCA4 variants, that showed a mild splice defect in vitro and can occur on the same allele as the low penetrant c.5603A>T, in Stargardt disease (STGD1). 31618761 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 GeneticVariation phenotype BEFREE The CFTR Corrector, VX-809 (Lumacaftor), Rescues ABCA4 Trafficking Mutants: a Potential Treatment for Stargardt Disease. 31403270 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 GeneticVariation phenotype BEFREE Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease. 31212395 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 GeneticVariation phenotype BEFREE Variants in the ABCA4 gene are causal for a variety of retinal dystrophy phenotypes, including Stargardt disease (STGD1). 30926958 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 GeneticVariation phenotype BEFREE In humans, the ABCA4 gene is associated with Stargardt disease (STGD), an autosomal recessive retinal degeneration leading to central visual impairment. 30889179 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 GeneticVariation phenotype BEFREE Pathogenic variants in the ATP-binding cassette transporter A4 (ABCA4) gene cause a continuum of retinal disease phenotypes, including Stargardt disease. 31397521 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 GeneticVariation phenotype BEFREE Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. 30643219 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 Biomarker phenotype BEFREE Targeting the early pathogenic steps in Stargardt disease type 1 (STGD1) is critical to advance our understanding of this condition and to develop potential therapies. 30896765 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 Biomarker phenotype BEFREE Scotopic microperimetry (sMP) was performed in one designated study eye in a subset of participants with molecularly proven ABCA4-associated Stargardt disease (STGD1) enrolled in a multicenter natural history study (ProgStar). 29940588 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 Biomarker phenotype MGD Mutations in the gene encoding ABCA4 are responsible for Stargardt disease (STGD1), an autosomal recessive retinal degenerative disease that causes severe vision loss. 29145636 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 GeneticVariation phenotype BEFREE Mutations in the gene encoding ABCA4 are responsible for Stargardt disease (STGD1), an autosomal recessive retinal degenerative disease that causes severe vision loss. 29145636 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 Biomarker phenotype BEFREE ULTRAWIDEFIELD AUTOFLUORESENCE IN ABCA4 STARGARDT DISEASE. 28248825 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 GeneticVariation phenotype BEFREE We report an unusual phenotype in a child with a clinical diagnosis of recessive Stargardt disease (STGD1) and two pathogenic variants in the ABCA4 gene. 28726568 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 GeneticVariation phenotype BEFREE Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease. 29847635 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 GeneticVariation phenotype BEFREE We report an 11-year-old girl with Stargardt disease harboring novel compound heterozygous deletions of ABCA4 (c.850_857delATTCAAGA and c.6184_6187delGTCT). 28885670 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 GeneticVariation phenotype BEFREE Deep-intronic variants in ABCA4 have been associated with autosomal-recessive Stargardt disease (STGD1), but the exact pathogenic mechanism is unknown. 29526278 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 GeneticVariation phenotype BEFREE Stargardt disease (STGD1), due to mutations in the large ABCA4 gene, is the most common inherited macular degeneration in humans. 29188512 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 Biomarker phenotype BEFREE To evaluate the therapeutic effects of omega-3 (ω3) fatty acids on retinal degeneration in the ABCA4-/- model of Stargardt disease when the blood level of arachidonic acid (AA)/eicosapentaenoic acid (EPA) ratio is between 1 and 1.5. 29860462 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 GeneticVariation phenotype BEFREE The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants. 29971439 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
1.000 GeneticVariation phenotype BEFREE Early impairment of the full-field photopic negative response in patients with Stargardt disease and pathogenic variants of the ABCA4 gene. 29178665 2018