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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
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FUCA1 and lysosomal storage disease are reported together in 1 article.
Gene
FUCA1
- HGNC
- HGNC:4006
1articles
1mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
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 60Fucosidosis: A Review of a Rare Disease.
PMID 39796208 | PMCID PMC11719934 | DOI 10.3390/ijms26010353 · International journal of molecular sciences · 2025 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | FUCA1 | “Fucosidosis is a rare lysosomal storage disease caused by α-L-fucosidase deficiency following a mutation in the FUCA1 gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | lysosomal storage disease | “Fucosidosis is a rare lysosomal storage disease caused by α-L-fucosidase deficiency following a mutation in the FUCA1 gene.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | intellectual disability | “Chronic neuroinflammation impairs synaptic plasticity and neuronal survival, leading to progressive intellectual disability, learning difficulties, and loss of previously acquired skills.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | epilepsy | “Elevated neuroinflammatory markers can increase neuronal excitability, leading to the frequent occurrence of epilepsy in affected individuals.” | 0.98 | phenotype_alias_lexicon_v2 |