| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.720 | GeneticVariation | disease | BEFREE | Molecular dynamic simulation and principal component analysis provide compelling evidence that this PROM1 mutation contributes to disease causativeness or susceptibility variants in patients with STGD4-like MD. | 29416601 | 2018 | ||||
|
0.720 | GeneticVariation | disease | BEFREE | Mutations in the Prom1 gene have been shown to disrupt photoreceptor disk morphogenesis and cause an autosomal dominant form of Stargardt-like macular dystrophy (STGD4). | 28437526 | 2017 | ||||
|
0.720 | GeneticVariation | disease | UNIPROT | Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. | 18654668 | 2008 | ||||
|
0.720 | CausalMutation | disease | CLINVAR | |||||||
|
0.720 | Biomarker | disease | CTD_human | |||||||
|
0.720 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.200 | Biomarker | disease | MGD | Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration. | 29145636 | 2018 | ||||
|
0.200 | Biomarker | disease | MGD | Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following Vitamin A supplementation. | 18515570 | 2008 | ||||
|
0.200 | Biomarker | disease | MGD | Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4. | 17356513 | 2007 | ||||
|
0.200 | Biomarker | disease | MGD | Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration. | 17003453 | 2006 | ||||
|
0.200 | Biomarker | disease | MGD | Retinol dehydrogenase (RDH12) protects photoreceptors from light-induced degeneration in mice. | 17032653 | 2006 | ||||
|
0.200 | Biomarker | disease | MGD | Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. | 10412977 | 1999 |