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Genetic disease associated RBPs
| Ensembl ID | Gene symbol | Open Targets Genetics | Clinvar | Gene Burden | Genomics england panel | Gene2Phenotype | UniProt literature | Uniprot variants | Clingen | Orphanet | Detail |
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Source of genetic disease evidences
- 1. Open Targets Genetics: Open Targets Genetics.
- 2. Clinvar: European Variation Archive.
- 3. Gene Burden: AstraZeneca PheWAS Portal, GWAS Catalog, Genebass.
- 4. Genomics england panel: Genomics England PanelApp.
- 5. Gene2Phenotype: Gene2Phenotype.
- 6. UniProt literature: UniProt.
- 7. Uniprot variants: UniProt.
- 8. Clingen: ClinGen Gene-Disease Validity.
- 9. Orphanet: Orphanet Genes Associated with Rare Diseases.