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PRPF31 and retinitis pigmentosa are reported together in 3 articles.
Gene
PRPF31
- HGNC
- HGNC:15446
5articles
5mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Retinitis pigmentosa
88articles
88mentions
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
3 records shown · first 60Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cells.
PMID 35297555 | PMCID PMC8926896 | DOI 10.1002/ctm2.759 · Clinical and translational medicine · 2022 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PRPF31 | “Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cells.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinitis pigmentosa | “INTRODUCTION: Mutations in pre-mRNA processing factor 31 (PRPF31), a core protein of the spliceosomal tri-snRNP complex, cause autosomal-dominant retinitis pigmentosa (adRP).” | 0.98 | phenotype_alias_lexicon_v2 |
Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa.
PMID 30315276 | PMCID PMC6185938 | DOI 10.1038/s41467-018-06448-y · Nature communications · 2018 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PRPF31 | “Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinitis pigmentosa | “Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa.” | 0.98 | phenotype_alias_lexicon_v2 |
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
PMID 26167768 | PMCID PMC4536769 | DOI 10.1038/ncb3201 · Nature cell biology · 2015 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PRPF31 | “We identify 112 candidate ciliogenesis and ciliopathy genes, including 44 components of the ubiquitin-proteasome system, 12 G-protein-coupled receptors, and 3 pre-mRNA processing factors (PRPF6, PRPF8 and PRPF31) mutated in autosomal dominant retinitis pigmentosa.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinitis pigmentosa | “We identify 112 candidate ciliogenesis and ciliopathy genes, including 44 components of the ubiquitin-proteasome system, 12 G-protein-coupled receptors, and 3 pre-mRNA processing factors (PRPF6, PRPF8 and PRPF31) mutated in autosomal dominant retinitis pigmentosa.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | PRPF6 | “We identify 112 candidate ciliogenesis and ciliopathy genes, including 44 components of the ubiquitin-proteasome system, 12 G-protein-coupled receptors, and 3 pre-mRNA processing factors (PRPF6, PRPF8 and PRPF31) mutated in autosomal dominant retinitis pigmentosa.” | 0.98 | hgnc_dict_v1 |
| gene | PRPF8 | “We identify 112 candidate ciliogenesis and ciliopathy genes, including 44 components of the ubiquitin-proteasome system, 12 G-protein-coupled receptors, and 3 pre-mRNA processing factors (PRPF6, PRPF8 and PRPF31) mutated in autosomal dominant retinitis pigmentosa.” | 0.98 | hgnc_dict_v1 |