Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.150 GeneticVariation phenotype BEFREE Variants in the ABCA4 gene are the most common cause of juvenile-onset blindness affecting close to 1 in 10 000 people worldwide. 28327576 2017
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.150 Biomarker phenotype BEFREE These data indicate that ABCA4-deficient cones simultaneously generate more A2E than rods and are less able to effectively clear it, and suggest that primary cone toxicity may contribute to Stargardt's-associated macular vision loss in addition to cone death secondary to RPE atrophy. 22033104 2012
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.150 Biomarker phenotype BEFREE Results support the notion that lipofuscin forms partly as a result of the aberrant reactivity of vitamin A through the formation of vitamin A dimers, provide evidence that preventing vitamin A dimerization may slow disease related, retinal physiological changes and perhaps vision loss and suggest that administration of C20-D(3)-vitamin A may be a potential clinical strategy to ameliorate clinical symptoms resulting from ABCA4 genetic defects. 21156790 2011
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.150 GeneticVariation phenotype BEFREE Hundreds of mutations in ABCA4 are known to cause impaired vision and blindness such as in Stargardt disease as well as related disorders. 20711710 2010
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.150 Biomarker phenotype BEFREE The exact disease sequence leading to photoreceptor and vision loss in ABCA4-RD is not known. 14709597 2004
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.150 CausalMutation phenotype CLINVAR
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.150 Biomarker phenotype HPO