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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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GLA and stroke are reported together in 1 article.

Gene

GLA

HGNC
HGNC:4296
10articles
10mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype

Stroke

555articles
555mentions
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 60

The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.

PMID 33835733 | PMCID PMC8172211 | DOI 10.1002/mgg3.1666 · Molecular genetics & genomic medicine · 2021 · 7 validated mentions
TypeEntitySource evidenceConfidenceExtractor
geneGLA“Fabry disease, an X-linked lysosomal storage disorder caused by pathogenic variants in GLA, can lead to end-stage renal disease, cardiac arrhythmias, and stroke.”0.98hgnc_dict_v1
phenotypestroke“Fabry disease, an X-linked lysosomal storage disorder caused by pathogenic variants in GLA, can lead to end-stage renal disease, cardiac arrhythmias, and stroke.”0.98phenotype_alias_lexicon_v2
phenotypeFabry disease“The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.”0.98phenotype_alias_lexicon_v2
phenotypecardiomyopathy“Newborn screening and screening of at-risk populations, (e.g., patients with hypertrophic cardiomyopathy or undiagnosed nephropathies) can identify individuals with Fabry disease.”0.98phenotype_alias_lexicon_v2