Source: ALL
| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.810 | Biomarker | disease | BEFREE | RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12. | 23740938 | 2013 | ||||
|
0.810 | Biomarker | disease | MGD | New mouse primary retinal degeneration (rd-3). | 8486383 | 1993 | ||||
|
0.810 | Biomarker | disease | CTD_human | |||||||
|
0.810 | CausalMutation | disease | CLINVAR | |||||||
|
0.810 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.020 | Biomarker | disease | BEFREE | Truncation mutations are responsible for photoreceptor degeneration and severe early-onset vision loss in Leber congenital amaurosis 12 (LCA12) patients, the rd3 mouse and the rcd2 collie. | 23740938 | 2013 | ||||
|
0.020 | GeneticVariation | disease | BEFREE | The LCA12 phenotype in our patients is highly similar to those of patients with mutant photoreceptor-specific guanylate cyclase (GUCY2D/LCA1). | 23308101 | 2013 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | To further investigate the role of RD3 in photoreceptors and explore gene therapy as a potential treatment for LCA12, we delivered adeno-associated viral vector (AAV8) with a Y733F capsid mutation and containing the mouse Rd3 complementary DNA (cDNA) under the control of the human rhodopsin kinase promoter to photoreceptors of 14-day-old Rb(11.13)4Bnr/J and In (5)30Rk/J strains of rd3 mice by subretinal injections. | 23740938 | 2013 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | To further investigate the role of RD3 in photoreceptors and explore gene therapy as a potential treatment for LCA12, we delivered adeno-associated viral vector (AAV8) with a Y733F capsid mutation and containing the mouse Rd3 complementary DNA (cDNA) under the control of the human rhodopsin kinase promoter to photoreceptors of 14-day-old Rb(11.13)4Bnr/J and In (5)30Rk/J strains of rd3 mice by subretinal injections. | 23740938 | 2013 |