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AGBL5 and retinitis pigmentosa are reported together in 2 articles.
Gene
AGBL5
- HGNC
- HGNC:26147
2articles
2mentions
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 60Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation.
PMID 35892439 | PMCID PMC9326729 | DOI 10.3390/clinpract12040053 · Clinics and practice · 2022 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | AGBL5 | “Next-generation sequencing revealed novel compound heterozygous c.373 C>T (p.Arg125Trp) and c.730-22_730-19dup variants in AGBL5 in patient 1, and a novel hemizygous c.1286 C>T (p.Pro429Leu) in patient 2; both gene mutations were 0%.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinitis pigmentosa | “Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | retinal dystrophy | “Unilateral retinitis pigmentosa (URP) is a rare retinal dystrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Arg125Trp | “Next-generation sequencing revealed novel compound heterozygous c.373 C>T (p.Arg125Trp) and c.730-22_730-19dup variants in AGBL5 in patient 1, and a novel hemizygous c.1286 C>T (p.Pro429Leu) in patient 2; both gene mutations were 0%.” | 0.95 | hgvs_regex_v1 |
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
PMID 26355662 | DOI 10.1038/gim.2015.127 · Genetics in medicine : official journal of the American College of Medical Genetics · 2016 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | AGBL5 | “Whole-exome sequencing revealed the likely candidate as AGBL5 and CDH16, respectively.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinitis pigmentosa | “Moreover, we identified a homozygous truncating mutation in DNAJC17 in a family with an apparently novel syndrome of retinitis pigmentosa and hypogammaglobulinemia.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | CDH16 | “Whole-exome sequencing revealed the likely candidate as AGBL5 and CDH16, respectively.” | 0.98 | hgnc_dict_v1 |
| gene | GNS | “We also performed exome sequencing on negative syndromic RD cases and identified a novel homozygous truncating mutation in GNS in a family with the novel combination of mucopolysaccharidosis and RD.” | 0.98 | hgnc_dict_v1 |