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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 60A novel mutation and in vivo confocal microscopic findings in Fabry disease.
PMID 28337063 | PMCID PMC5352937 | DOI 10.1016/j.sjopt.2016.12.005 · Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society · 2017 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | Fabry disease | “A novel mutation and in vivo confocal microscopic findings in Fabry disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | R112L | “Herein, we demonstrate the in vivo confocal microscopic findings of a genetically proven Fabry disease patient with a novel hemizygous R112L mutation in GLA gene.” | 0.82 | literature_variant_regex_v2 |
| gene | GLA | “Herein, we demonstrate the in vivo confocal microscopic findings of a genetically proven Fabry disease patient with a novel hemizygous R112L mutation in GLA gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | lysosomal storage disease | “Fabry disease is a hereditary, X-linked lysosomal storage disease due to a deficiency of the alpha galactosidase A enzyme.” | 0.98 | phenotype_alias_lexicon_v2 |