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PGM1 and inborn error of metabolism are reported together in 1 article.
Gene
PGM1
- HGNC
- HGNC:8905
4articles
4mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Inborn error of metabolism
- HPO
- HP:0001939
99articles
99mentions
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 60Structural insights into mutated human phosphoglucomutase 1 (PGM1) using computational approaches.
PMID 42412886 | DOI 10.1080/07391102.2026.2696958 · Journal of biomolecular structure & dynamics · 2026 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PGM1 | “Structural insights into mutated human phosphoglucomutase 1 (PGM1) using computational approaches.” | 0.98 | hgnc_dict_v1 |
| phenotype | inborn error of metabolism | “PGM1 has been linked to multiple disease phenotypes, including the inherited metabolic disorder known as congenital disorders of glycosylation (CDGs).” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | T19A | “To delve into molecular changes at the supramolecular level, the structural, stability, and other features of PGM1 variants (T19A, N38Y, and D62H) were studied in the present work.” | 0.82 | literature_variant_regex_v2 |
| variant | N38Y | “To delve into molecular changes at the supramolecular level, the structural, stability, and other features of PGM1 variants (T19A, N38Y, and D62H) were studied in the present work.” | 0.82 | literature_variant_regex_v2 |