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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
Lysosomal storage disease
- HPO
- HP:0003541
50articles
50mentions
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 60The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis.
PMID 36674769 | PMCID PMC9864853 | DOI 10.3390/ijms24021253 · International journal of molecular sciences · 2023 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | lysosomal storage disease | “Cystinosis is an autosomal recessive lysosomal storage disease, caused by mutations in the CTNS gene, resulting in multi-organ cystine accumulation.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Asn177Ser | “CTNS gene analysis shows the presence of a homozygous missense mutation (c.590 A > G; p.Asn177Ser), previously described in the Arab population.” | 0.95 | hgvs_regex_v1 |
| gene | CTNS | “Cystinosis is an autosomal recessive lysosomal storage disease, caused by mutations in the CTNS gene, resulting in multi-organ cystine accumulation.” | 0.98 | hgnc_dict_v1 |