Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
0.200 GeneticVariation 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
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
0.200 Biomarker BEFREE Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy. 29310964

2018

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
0.200 GeneticVariation 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

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
0.200 GeneticVariation 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
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
0.200 GeneticVariation BEFREE Stargardt disease (STGD1) due to mutations in the large ABCA4 gene is the most common inherited macular degeneration in humans. 26420842

2015

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
0.200 GeneticVariation 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

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
0.200 GeneticVariation 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

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
0.200 Biomarker BEFREE Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration. 22948568

2012

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
0.200 Biomarker BEFREE ATP-binding cassette transporter ABCA4: molecular properties and role in vision and macular degeneration. 17994272

2007

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
0.200 GeneticVariation 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

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
0.200 GeneticVariation BEFREE Mutations in the retina-specific ABC transporter (ABCA4) gene have been associated with several forms of macular degenerations. 15192030

2004

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
0.200 Biomarker 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

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
0.200 Biomarker BEFREE The precursors of A2E identified in this study may represent pharmacological targets for the treatment of ABCR-mediated macular degeneration. 10852960

2000

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
0.200 GeneticVariation BEFREE The ABCR gene in recessive and dominant Stargardt diseases: a genetic pathway in macular degeneration. 10486215

1999