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RPGRIP1 and retinitis pigmentosa are reported together in 2 articles.
Gene
RPGRIP1
- HGNC
- HGNC:13436
7articles
7mentions
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
2 records shown · first 60Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish.
PMID 29203866 | PMCID PMC5715152 | DOI 10.1038/s41598-017-12838-x · Scientific reports · 2017 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | RPGRIP1 | “Mutations in the RPGR-interacting protein 1 (RPGRIP1) gene cause recessive Leber congenital amaurosis (LCA), juvenile retinitis pigmentosa (RP) and cone-rod dystrophy.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinitis pigmentosa | “Mutations in the RPGR-interacting protein 1 (RPGRIP1) gene cause recessive Leber congenital amaurosis (LCA), juvenile retinitis pigmentosa (RP) and cone-rod dystrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | Leber congenital amaurosis | “Mutations in the RPGR-interacting protein 1 (RPGRIP1) gene cause recessive Leber congenital amaurosis (LCA), juvenile retinitis pigmentosa (RP) and cone-rod dystrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
The RPGRIP1-related retinal phenotype in children.
PMID 23505306 | DOI 10.1136/bjophthalmol-2012-303050 · The British journal of ophthalmology · 2013 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | RPGRIP1 | “AIM: To characterise the childhood retinal phenotype associated with recessive mutations in retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), a gene that has been infrequently associated with Leber congenital amaurosis, the most severe form of childhood non-syndromic retinal dystrophy.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinitis pigmentosa | “AIM: To characterise the childhood retinal phenotype associated with recessive mutations in retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), a gene that has been infrequently associated with Leber congenital amaurosis, the most severe form of childhood non-syndromic retinal dystrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | retinal dystrophy | “AIM: To characterise the childhood retinal phenotype associated with recessive mutations in retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), a gene that has been infrequently associated with Leber congenital amaurosis, the most severe form of childhood non-syndromic retinal dystrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | Leber congenital amaurosis | “AIM: To characterise the childhood retinal phenotype associated with recessive mutations in retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), a gene that has been infrequently associated with Leber congenital amaurosis, the most severe form of childhood non-syndromic retinal dystrophy.” | 0.98 | phenotype_alias_lexicon_v2 |