Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.700 GeneticVariation disease 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
0.700 GeneticVariation disease 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
0.700 GeneticVariation disease BEFREE Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular Dystrophy. 31618812 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.700 Biomarker disease BEFREE Generation of the induced pluripotent stem cell line from a patient with autosomal recessive ABCA4-mediated Stargardt Macular Dystrophy. 30634128 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.700 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
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.700 Biomarker disease BEFREE Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy. 29310964 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.700 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
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.700 Biomarker disease BEFREE Mice lacking ATP-binding cassette transporter 4 (ABCA4) and retinol dehydrogenase 8 (RDH8) mimic features of human Stargardt disease and age-related macular degeneration. 27315541 2016
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.700 GeneticVariation disease BEFREE Because A2E accumulation in the RPE is associated with pathogenesis of both Stargardt disease and age-related macular degeneration (AMD) in humans, deletion of Abca4 was introduced into Atg7(flox/flox);VMD2-rtTA-cre+ mice to investigate the role of autophagy during A2E accumulation. 26468292 2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.700 GeneticVariation disease BEFREE To address the latter issue, this study aimed to expand on earlier efforts by (1) evaluating risk-altering variants known to be associated with age-related macular degeneration (AMD), a frequent maculopathy in individuals over 55 years of age, and (2) determining the contribution of genetic variants in the coding sequence of the ABCA4 gene. 25884411 2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.700 GeneticVariation disease BEFREE 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
0.700 GeneticVariation disease BEFREE 2633C>A (CC+CA) genotype, 5646G>A and 6389T>A polymorphisms of ABCA4 gene and smoking are susceptible factors for AMD, and the interactions of ABCA4 polymorphisms with smoking increased the risk of AMD. 26261643 2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.700 GeneticVariation disease BEFREE Long-term follow-up of these and other ABCA4 carriers may be of importance to elucidate the role of ABCA4 mutations in age-related macular degeneration. 26261413 2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.700 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
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.700 GeneticVariation disease BEFREE In contrast, hRPE cells of the AMD-protective CFH haplotype (YY402/II62) showed no complement activation following exposure to either Abca4(-/-) or wild-type OS. 24550392 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.700 GeneticVariation disease BEFREE In a subset of inherited retinal degenerations (including cone, cone-rod, and macular dystrophies), cone photoreceptors are more severely affected than rods; ABCA4 mutations are the most common cause of this heterogeneous class of disorders. 24791901 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.700 Biomarker disease BEFREE Generalized choriocapillaris dystrophy is a progressive ABCA4-associated phenotype characterized by early-onset macular dystrophy that disperses and expands to widespread end-stage chorioretinal atrophy with profound visual loss. 24713488 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.700 Biomarker disease BEFREE Study of FTMT and ABCA4 genes in a patient affected by age-related macular degeneration: identification and analysis of new mutations. 22706241 2012
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.700 Biomarker disease BEFREE Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration. 22948568 2012
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.700 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
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.700 GeneticVariation disease BEFREE A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene. 22427542 2012
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.700 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
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.700 Biomarker disease BEFREE ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype. 20335603 2010
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.700 Biomarker disease BEFREE The ABCR gene and its protein have been linked to Stargardt's disease, fundus flavimaculatus, cone-rod dystrophy, retinitis pigmentosa, and age-related macular degeneration. 20419437 2010
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.700 GeneticVariation disease BEFREE Mutations in the ABCA4 gene are responsible for a number of related retinal degenerative diseases, including Stargardt macular degeneration, cone-rod dystrophy, retinitis pigmentosa, and age-related macular degeneration. 19056738 2009