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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 60Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation.
PMID 30124108 | DOI 10.1177/0883073818790851 · Journal of child neurology · 2018 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | lysosomal storage disease | “Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder due to a deficiency in formylglycine-generating enzyme, which is encoded by the Sulfatase Modifying Factor 1 ( SUMF1) gene.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | c.785A>G | “Herein, we report 6 Saudi patients with multiple sulfatase deficiency caused by a novel homozygous missense mutation in the SUMF1 gene (NM_182760.3; c.785A>G [p.Gln262Arg]).” | 0.95 | hgvs_regex_v1 |
| gene | SUMF1 | “Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder due to a deficiency in formylglycine-generating enzyme, which is encoded by the Sulfatase Modifying Factor 1 ( SUMF1) gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “The most common characteristics are developmental regression, intellectual disability, ichthyosis, and periventricular white matter disease.” | 0.98 | phenotype_alias_lexicon_v2 |