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G6PC1 and glycogen storage disease are reported together in 1 article.
Gene
G6PC1
- HGNC
- HGNC:4056
1articles
1mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
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 60Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia.
PMID 40743267 | PMCID PMC12312935 | DOI 10.1371/journal.pone.0329008 · PloS one · 2025 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | G6PC1 | “The most common founder variant is P.(Arg83Cys) in the G6PC1 gene (20% of the 65 GSD patients), clustering in Aseer Province.” | 0.98 | hgnc_dict_v1 |
| phenotype | glycogen storage disease | “Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | hypertension | “Six patients underwent liver transplantation (due to difficulty controlling hypoglycemia in 5 GSD Ia patients and severe portal hypertension in one GSD IV patient).” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia. BACKGROUND AND OBJECTIVES: The paucity of data on glycogen storage diseases (GSDs) from Arabs prompted us to report on hepatic GSD to characterize its clinical and molecular features and outcomes among Saudi children and to evaluate genotype‒phenotype correlations. METHODS: We retrospectively reviewed the charts of 65 children (37 females) with genetically confirmed hepatic GSD who presented between 2008 and 2020 and were followed up for a median duration of 9 years (range: 0.4-21 years). CONCLUSION: With the exception of GSD VI, all the hepatic GSD subtypes in Saudi Arabia are associated with a severe phenotype.” | 0.95 | saudi_context_rules_v1 |