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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
Mucopolysaccharidosis
- HPO
- HP:0008155
37articles
37mentions
10co-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 clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.
PMID 28914427 | PMCID PMC5752655 | DOI 10.1007/s12687-017-0329-1 · Journal of community genetics · 2018 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | mucopolysaccharidosis | “The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | Y251X | “Only one genotype (c.753C > Gp.Y251X) was identified among five of the studied families.” | 0.82 | literature_variant_regex_v2 |
| gene | ARSB | “So far, more than 150 mutations have been reported in the ARSB gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | lysosomal storage disease | “Mucopolysaccharidosis (MPS VI) or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylgalactosamine 4-sulfatase or arylsulfatase B.” | 0.98 | phenotype_alias_lexicon_v2 |