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
DNAJC17 and retinitis pigmentosa are reported together in 1 article.
Gene
DNAJC17
- HGNC
- HGNC:25556
1articles
1mentions
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
1 records shown · first 60Expanding 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 | DNAJC17 | “Moreover, we identified a homozygous truncating mutation in DNAJC17 in a family with an apparently novel syndrome of retinitis pigmentosa and hypogammaglobulinemia.” | 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 | AGBL5 | “Whole-exome sequencing revealed the likely candidate as AGBL5 and CDH16, respectively.” | 0.98 | hgnc_dict_v1 |
| gene | CDH16 | “Whole-exome sequencing revealed the likely candidate as AGBL5 and CDH16, respectively.” | 0.98 | hgnc_dict_v1 |