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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
Glycogen storage disease
- HPO
- HP:0003542
18articles
18mentions
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 60A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.
PMID 25827695 | PMCID PMC6074555 | DOI 10.5144/0256-4947.2014.390 · Annals of Saudi medicine · 2014 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | glycogen storage disease | “A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | IVS32 | “RESULTS: Genotyping and sequence analysis identified a homozygous intronic splice acceptor site mutation (IVS32-12A > G) in 4 families perfectly segregating with the phenotype.” | 0.82 | literature_variant_regex_v2 |
| gene | AGL | “BACKGROUND AND OBJECTIVES: Glycogen storage disease type 3 (GSD III) is an autosomal recessive disorder caused by genetic mutations in the gene AGL.” | 0.98 | hgnc_dict_v1 |
| phenotype | cardiomyopathy | “GSD III is characterized by fasting hypoglycemia, hepatomegaly, growth retardation, progressive myopathy, and cardiomyopathy due to storage of abnormally structured glycogen in both skeletal and cardiac muscles and/or liver.” | 0.98 | phenotype_alias_lexicon_v2 |