Advanced search
Combine gene, variant, phenotype, region and year filters
Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
Knowledge-base search
About your search
Phenotype
Congenital myopathy
134articles
134mentions
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 60Inflammatory myopathy with abundant macrophage [IMAM]: Systemic analysis and pathological approach to distinguish it from dermatomyositis.
PMID 39973451 | PMCID PMC11949305 | DOI 10.1177/22143602251315376 · Journal of neuromuscular diseases · 2025 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | congenital myopathy | “Inflammatory myopathy with abundant macrophage [IMAM]: Systemic analysis and pathological approach to distinguish it from dermatomyositis.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | C43R | “Genetic analysis revealed MEFV polymorphisms in 7 cases and a TNFRSF1A mutation [C43R] in single case.” | 0.82 | literature_variant_regex_v2 |
| gene | CD68 | “Histologically, all cases showed myonecrosis infiltrated with CD68+ macrophages.” | 0.98 | hgnc_dict_v1 |
| gene | STAT1 | “Elevated TNFα and IFN-γ levels, with low STAT1 and STAT6, were observed.” | 0.98 | hgnc_dict_v1 |