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PGAM2 and glycogen storage disease are reported together in 1 article.
Gene
PGAM2
- HGNC
- HGNC:8889
2articles
2mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
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 60Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X.
PMID 34237446 | DOI 10.1016/j.ejmg.2021.104283 · European journal of medical genetics · 2021 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PGAM2 | “Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X.” | 0.98 | hgnc_dict_v1 |
| phenotype | glycogen storage disease | “Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.687dupC | “Targeted exome sequencing revealed a biallelic frameshift variant (c.687dupC; p.” | 0.95 | hgvs_regex_v1 |