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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 60Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.
PMID 24326380 | DOI 10.1007/s00431-013-2223-0 · European journal of pediatrics · 2014 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | glycogen storage disease | “Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | p.G220E | “The novel mutation found in all the three patients (p.G220E) affects the catalytic subunit of the phosphorylase kinase.” | 0.95 | hgvs_regex_v1 |
| gene | PHKG2 | “Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.” | 0.98 | hgnc_dict_v1 |
| gene | PHKA1 | “Glycogen storage disease type IX (GSD IX) is a common form of glycogenosis due to mutations in PHKA1, PHKA2, or PHKB and PHKG2 genes resulting in the deficiency of phosphorylase kinase.” | 0.98 | hgnc_dict_v1 |