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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 60Phenotypic Evolution in Fabry Disease: Our Experience in Indian Cohort.
PMID 40123633 | PMCID PMC11928697 | DOI 10.1007/s12291-023-01176-7 · Indian journal of clinical biochemistry : IJCB · 2025 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | Fabry disease | “Phenotypic Evolution in Fabry Disease: Our Experience in Indian Cohort.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Pro205Ala | “Consistent with this, we had a very early onset neonatal Fabry with 0% specific enzyme activity harbouring c.613C > G (p.Pro205Ala) mutation in the GLA gene.” | 0.95 | hgvs_regex_v1 |
| gene | GLA | “Consistent with this, we had a very early onset neonatal Fabry with 0% specific enzyme activity harbouring c.613C > G (p.Pro205Ala) mutation in the GLA gene.” | 0.98 | hgnc_dict_v1 |