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PRPF8 and retinal dystrophy are reported together in 1 article.
Gene
PRPF8
- HGNC
- HGNC:17340
3articles
3mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Retinal dystrophy
- HPO
- HP:0000556
121articles
121mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Intermediate Uveitis in Retinitis Pigmentosa Associated with a Novel Homozygous Splice Site Mutation in PRPF8.
PMID 36685344 | PMCID PMC9846957 | DOI 10.4103/meajo.meajo_98_22 · Middle East African journal of ophthalmology · 2022 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PRPF8 | “Intermediate Uveitis in Retinitis Pigmentosa Associated with a Novel Homozygous Splice Site Mutation in PRPF8.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinal dystrophy | “Retinal dystrophy features were present in the left eye.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | retinitis pigmentosa | “Intermediate Uveitis in Retinitis Pigmentosa Associated with a Novel Homozygous Splice Site Mutation in PRPF8.” | 0.98 | phenotype_alias_lexicon_v2 |