Retinal dystrophy
Information
- Disease name
- Retinal dystrophy
- Disease ID
- Description
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| PGAP1 | 2 | 196,833,004 | 196,926,707 | 4 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05820100 | Completed | Observational Study to Assess the Reliability and Validity of the MLYMT and MLSDT | April 25, 2023 | October 17, 2023 | |
| NCT04545736 | Recruiting | Phase 1/Phase 2 | Oral Metformin for Treatment of ABCA4 Retinopathy | November 23, 2020 | August 31, 2027 |
| NCT05130385 | Recruiting | High Resolution Optical Coherence Tomography | November 30, 2021 | November 30, 2023 | |
| NCT05902962 | Recruiting | Phase 1 | SAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects | April 20, 2023 | May 30, 2024 |
- HPO alt_id (Human Phenotype Ontology)
- HP:0007736
- HPO alt_id (Human Phenotype Ontology)
- HP:0007910
- HPO alt_id (Human Phenotype Ontology)
- HP:0007974
- HPO alt_id (Human Phenotype Ontology)
- HP:0007982
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0000556