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SGCA and congenital myopathy are reported together in 1 article.
Gene
SGCA
- HGNC
- HGNC:10805
4articles
4mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
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 60The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
PMID 27708273 | PMCID PMC5266644 | DOI 10.1038/jhg.2016.116 · Journal of human genetics · 2017 · 16 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SGCA | “Dominant mutations were identified in COL6A1, COL6A3, FLNC, LMNA, RYR1, SMCHD1 and VCP, recessive mutations in ANO5, CAPN3, GAA, LAMA2, SGCA and SGCG, and X-linked mutations in DMD.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital myopathy | “Twenty-two families (40%) had novel and previously reported pathogenic mutations, primarily in LGMD genes, and also in genes for Duchenne muscular dystrophy, facioscapulohumeral muscular dystrophy, congenital myopathy, myofibrillar myopathy, inclusion body myopathy and Pompe disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | COL6A1 | “Dominant mutations were identified in COL6A1, COL6A3, FLNC, LMNA, RYR1, SMCHD1 and VCP, recessive mutations in ANO5, CAPN3, GAA, LAMA2, SGCA and SGCG, and X-linked mutations in DMD.” | 0.98 | hgnc_dict_v1 |
| gene | COL6A3 | “Dominant mutations were identified in COL6A1, COL6A3, FLNC, LMNA, RYR1, SMCHD1 and VCP, recessive mutations in ANO5, CAPN3, GAA, LAMA2, SGCA and SGCG, and X-linked mutations in DMD.” | 0.98 | hgnc_dict_v1 |