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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
Fabry disease
19articles
19mentions
6co-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 60Genetics of ischemic stroke.
PMID 21063358 · Neurosciences (Riyadh, Saudi Arabia) · 2008 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | Fabry disease | “Meanwhile, the recent availability of enzyme replacement therapy for Fabry disease and the proven benefits of regular blood transfusion in certain patients with sickle cell disease have greatly altered the outlook of these devastating inherited disorders.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | G20210A | “Moreover, thrombophilic states such as prothrombin G20210A mutation and factor V Leiden are now known to cause arterial stroke as well as venous thrombosis.” | 0.82 | literature_variant_regex_v2 |
| gene | PDE4D | “Recent research has implicated some novel genes in the etiology of ischemic stroke, including genes for soluble epoxide hydrolase (sHE), 5-lipoxygenase activating protein (FLAP) and phosphodiesterase 4D (PDE4D).” | 0.98 | hgnc_dict_v1 |
| phenotype | stroke | “Genetics of ischemic stroke.” | 0.98 | phenotype_alias_lexicon_v2 |