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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 60Screening for Fabry disease among 619 hemodialysis patients in Saudi Arabia.
PMID 32789421 | PMCID PMC7502976 | DOI 10.15537/smj.2020.8.25184 · Saudi medical journal · 2020 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | Fabry disease | “Screening for Fabry disease among 619 hemodialysis patients in Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Ala352Gly | “Sanger sequencing of these 3 females showed the variant c.1055C greater than G (p.Ala352Gly) confirming the diagnosis of FD.” | 0.95 | hgvs_regex_v1 |
| gene | GLA | “When the second DBS sample was also positive (enzyme activity less than 40%), a Sanger sequencing of the GLA gene was performed.” | 0.98 | hgnc_dict_v1 |
| phenotype | renal failure | “All adult patients (greater than 18 years old) attending the dialysis unit who have end-stage renal disease (ESRD) and on hemodialysis were included.” | 0.93 | phenotype_alias_lexicon_v2 |