ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
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
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
1.000 GeneticVariation disease BEFREE Stargardt disease (STGD) is an autosomal recessive retinal disorder caused by a monogenic ABCA4 mutation. 31611143 2020
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
1.000 GeneticVariation disease BEFREE Using targeted exome and whole-exome sequencing, we found that eight families had disease-causing variants in the ABCA4 gene, one family had only one heterozygous variant in the ABCA4 gene, and the remaining three families have not been identified with any disease-causing variants for STGD. 31674661 2020
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
1.000 GeneticVariation phenotype BEFREE Stargardt disease (STGD1, OMIM 248200) is a common hereditary juvenile or early adult onset macular degeneration. 30563929 2019
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
1.000 GeneticVariation phenotype BEFREE CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION. 30204727 2019
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
1.000 GeneticVariation phenotype BEFREE Stargardt disease (On-Line Mendelian Inheritance In Man 242000, STGD1) is the most common inherited macular dystrophy. 31318848 2019
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
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
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
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
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
1.000 GeneticVariation phenotype BEFREE The CFTR Corrector, VX-809 (Lumacaftor), Rescues ABCA4 Trafficking Mutants: a Potential Treatment for Stargardt Disease. 31403270 2019
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
1.000 GeneticVariation phenotype BEFREE Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease. 31212395 2019
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
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
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
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
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
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
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
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
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
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
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
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
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
1.000 GeneticVariation disease BEFREE Two mild intronic ABCA4 variants could further explain missing heritability in late-onset STGD1, distinguishing it from AMD. 31618761 2019
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
1.000 GeneticVariation disease CLINVAR Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8. 29925512 2019
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
1.000 GeneticVariation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
1.000 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
1.000 GeneticVariation disease BEFREE Thirty-four ABCA4 variants previously identified in 16 STGD1 cases were reliably identified. 31212395 2019
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
1.000 Biomarker disease 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
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
1.000 GeneticVariation disease BEFREE The discovery of a canine homozygous ABCA4 loss-of-function mutation may advance the development of dog as a large animal model for human STGD. 30889179 2019
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
1.000 GeneticVariation disease BEFREE Phenotypic discordance between siblings with STGD1 carrying the same ABCA4 variants is a prevalent phenomenon. 31522899 2019
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
1.000 GeneticVariation disease BEFREE Sequencing of ABCA4 was performed in 8 STGD1 cases with one variant and p.Asn1868Ile in trans, 25 cases with one variant, and 3 cases with no ABCA4 variant. 30643219 2019