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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.
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Phenotype
Retinal dystrophy
- HPO
- HP:0000556
121articles
121mentions
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 60Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family.
PMID 25984213 | PMCID PMC4421651 | DOI 10.1093/ndtplus/sfr096 · NDT plus · 2011 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | retinal dystrophy | “Senior-Loken syndrome (SLS) is a rare autosomal recessive disease characterized by nephronophthisis and early-onset retinal degeneration.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | R332X | “In a region of homozygosity coinciding with a known SLS locus on chromosome 3q21.1, we found a homozygous non-sense mutation R332X in NPHP5/IQCB1.” | 0.82 | literature_variant_regex_v2 |
| gene | IQCB1 | “Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family.” | 0.98 | hgnc_dict_v1 |