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MYH3 and Duchenne muscular dystrophy are reported together in 2 articles.
Gene
MYH3
- HGNC
- HGNC:7573
3articles
3mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Duchenne muscular dystrophy
40articles
40mentions
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
2 records shown · first 60Decoding Myosin-3 mutational hotspots: Linking deleterious variants to Duchenne muscular dystrophy severity and psychiatric comorbidities.
PMID 40663516 | PMCID PMC12262874 | DOI 10.1371/journal.pone.0328503 · PloS one · 2025 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MYH3 | “This study employed various computational tools such as PolyPhen-2, SIFT, and I-Mutant to analyze 486 MYH3 missense mutations and predict the structural and functional implications.” | 0.98 | hgnc_dict_v1 |
| phenotype | Duchenne muscular dystrophy | “Decoding Myosin-3 mutational hotspots: Linking deleterious variants to Duchenne muscular dystrophy severity and psychiatric comorbidities.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | G182A | “Of these, 45 mutations were identified as likely to pathogenically alter Myosin-3 solubility, and 5 (G182A, R244C, R244H, H285Y, N483S) fell within evolutionarily conserved regions.” | 0.82 | literature_variant_regex_v2 |
| variant | R244C | “Of these, 45 mutations were identified as likely to pathogenically alter Myosin-3 solubility, and 5 (G182A, R244C, R244H, H285Y, N483S) fell within evolutionarily conserved regions.” | 0.82 | literature_variant_regex_v2 |
Discovering Promising Biomarkers and Therapeutic Targets for Duchenne Muscular Dystrophy: a Multiomics Meta-Analysis Approach.
PMID 38165583 | DOI 10.1007/s12035-023-03868-w · Molecular neurobiology · 2024 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MYH3 | “Two differentially expressed genes with substantial absolute log-fold changes, namely, DMD, downregulated and MYH3, upregulated, were identified as potential therapeutic candidates.” | 0.98 | hgnc_dict_v1 |
| phenotype | Duchenne muscular dystrophy | “Discovering Promising Biomarkers and Therapeutic Targets for Duchenne Muscular Dystrophy: a Multiomics Meta-Analysis Approach.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | COL1A1 | “Finally, eight hub genes-COL6A3, COL1A1, COL3A1, COL1A2, POSTN, TIMP1, THBS2 and SPP1-were pinpointed as central players in the network.” | 0.98 | hgnc_dict_v1 |
| gene | COL3A1 | “Finally, eight hub genes-COL6A3, COL1A1, COL3A1, COL1A2, POSTN, TIMP1, THBS2 and SPP1-were pinpointed as central players in the network.” | 0.98 | hgnc_dict_v1 |