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PGM1 and cleft lip and palate are reported together in 1 article.
Gene
PGM1
- HGNC
- HGNC:8905
4articles
4mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Cleft lip and palate
80articles
80mentions
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 60International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
PMID 32681750 | PMCID PMC7855268 | DOI 10.1002/jimd.12286 · Journal of inherited metabolic disease · 2021 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PGM1 | “Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation.” | 0.98 | hgnc_dict_v1 |
| phenotype | cleft lip and palate | “Most patients present as infants with cleft palate, liver function abnormalities and hypoglycemia, but some patients present in adulthood with isolated muscle involvement.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | cardiomyopathy | “Some patients develop life-threatening cardiomyopathy.” | 0.98 | phenotype_alias_lexicon_v2 |