Advanced search
Combine gene, variant, phenotype, region and year filters
Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
Knowledge-base search
About your search
RPGR and retinitis pigmentosa are reported together in 5 articles.
Gene
RPGR
- HGNC
- HGNC:10295
6articles
6mentions
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
5 records shown · first 60Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells.
PMID 37284979 | PMCID PMC10299921 | DOI 10.1007/s40291-023-00656-z · Molecular diagnosis & therapy · 2023 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | RPGR | “Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinitis pigmentosa | “It is purine-rich, repetitive and notoriously hard to sequence, but is a hotspot for mutations causing X-linked retinitis pigmentosa.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | retinal dystrophy | “METHODS: Long-read nanopore sequencing on MinION and Flongle flow cells was used to sequence RPGR ORF15 in genomic DNA from patients with inherited retinal dystrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy.
PMID 38155670 | PMCID PMC10752277 | DOI 10.4103/sjopt.sjopt_168_23 · Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society · 2023 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | RPGR | “Retinitis pigmentosa GTPase regulator (RPGR)-related retinopathy is a retinal dystrophy inherited in a X-linked recessive manner that typically causes progressive visual loss starting in childhood with severe visual impairment by the fourth decade of life.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinitis pigmentosa | “Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | retinal dystrophy | “Retinitis pigmentosa GTPase regulator (RPGR)-related retinopathy is a retinal dystrophy inherited in a X-linked recessive manner that typically causes progressive visual loss starting in childhood with severe visual impairment by the fourth decade of life.” | 0.98 | phenotype_alias_lexicon_v2 |
Restoration of RPGR expression in vivo using CRISPR/Cas9 gene editing.
PMID 34257417 | PMCID PMC8856954 | DOI 10.1038/s41434-021-00258-6 · Gene therapy · 2022 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | RPGR | “Restoration of RPGR expression in vivo using CRISPR/Cas9 gene editing.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinitis pigmentosa | “Mutations in the gene for Retinitis Pigmentosa GTPase Regulator (RPGR) cause the X-linked form of inherited retinal degeneration, and the majority are frameshift mutations in a highly repetitive, purine-rich region of RPGR known as the OFR15 exon.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | retinal dystrophy | “Mutations in the gene for Retinitis Pigmentosa GTPase Regulator (RPGR) cause the X-linked form of inherited retinal degeneration, and the majority are frameshift mutations in a highly repetitive, purine-rich region of RPGR known as the OFR15 exon.” | 0.93 | phenotype_alias_lexicon_v2 |
Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa.
PMID 33441055 | DOI 10.1080/13816810.2020.1867754 · Ophthalmic genetics · 2021 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | RPGR | “Six mutations, including three novel mutations, were found in CRB1, CNGB1, RPGR, and TULP1.Conclusions: Coats-like features in arRP range from retinal telangiectasis to VPTs with extensive ERD and occur predominantly in the inferotemporal retinal periphery.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinitis pigmentosa | “Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | CRB1 | “Six mutations, including three novel mutations, were found in CRB1, CNGB1, RPGR, and TULP1.Conclusions: Coats-like features in arRP range from retinal telangiectasis to VPTs with extensive ERD and occur predominantly in the inferotemporal retinal periphery.” | 0.98 | hgnc_dict_v1 |
| gene | CNGB1 | “Six mutations, including three novel mutations, were found in CRB1, CNGB1, RPGR, and TULP1.Conclusions: Coats-like features in arRP range from retinal telangiectasis to VPTs with extensive ERD and occur predominantly in the inferotemporal retinal periphery.” | 0.98 | hgnc_dict_v1 |
The gene therapy revolution in ophthalmology.
PMID 24227970 | PMCID PMC3809501 | DOI 10.1016/j.sjopt.2013.02.001 · Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society · 2013 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | RPGR | “By using dog models, researchers have made progress in studying X-linked retinitis pigmentosa which results from a RPGR gene mutation.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinitis pigmentosa | “Animal models on retinitis pigmentosa, Leber's Congenital Amaurosis (LCA), and Stargardt disease have involved the use of adeno-associated virus (AAV) to deliver functional genes into mice and canines.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | RPE65 | “The widely studied form of LCA is LCA2, resulting from a mutation in the gene RPE65.” | 0.98 | hgnc_dict_v1 |
| gene | ABCA4 | “Studies on Stargardt disease have shown that mutations in the ABCA4 gene can be corrected with AAV vectors, or nanoparticles.” | 0.98 | hgnc_dict_v1 |