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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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Phenotype
Gaucher disease
25articles
25mentions
5co-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
2 records shown · first 60Aortic calcification in Gaucher disease: a case report.
PMID 30410382 | PMCID PMC6199969 | DOI 10.2147/TACG.S180995 · The application of clinical genetics · 2018 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | Gaucher disease | “Aortic calcification in Gaucher disease: a case report.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | D409H | “This report further strengthens the association and reminds the clinicians that patients with D409H mutation need echocardiographic evaluation annually.” | 0.82 | literature_variant_regex_v2 |
| population | Saudi Arabia | “We report a Saudi girl who developed valvular and aortic calcification in late childhood and died as a result of her cardiovascular complications.” | 0.95 | saudi_context_rules_v1 |
Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC).
PMID 10636167 | DOI 10.1212/wnl.54.1.261 · Neurology · 2000 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | Gaucher disease | “Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC).” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | D409H | “Genotype analysis indicated that the two patients who were tested were homozygous for the D409H (1342G-->C) mutation.” | 0.82 | literature_variant_regex_v2 |
| population | Population | “The authors describe four siblings from consanguineous parents who presented with oculomotor deficit in early childhood characterized by impaired volitional horizontal saccades, compensatory lateral head thrust, and preservation of vertical movement.” | 0.80 | saudi_context_rules_v1 |