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GLA and renal failure are reported together in 2 articles.
Gene
GLA
- HGNC
- HGNC:4296
10articles
10mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Renal failure
523articles
523mentions
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
2 records shown · first 60The 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
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | GLA | “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.” | 0.98 | hgnc_dict_v1 |
| phenotype | renal failure | “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.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | Fabry disease | “The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | stroke | “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.” | 0.98 | phenotype_alias_lexicon_v2 |
Screening 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 |
|---|---|---|---|---|
| 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 |
| phenotype | Fabry disease | “Screening for Fabry disease among 619 hemodialysis patients in Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Screening for Fabry disease among 619 hemodialysis patients in Saudi Arabia. OBJECTIVES: To determine the prevalence of Fabry disease (FD) among Saudi patients on hemodialysis. METHODS: This prospective study was conducted in 3 major hospitals in the Kingdom of Saudi Arabia (KSA).” | 0.95 | saudi_context_rules_v1 |