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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.

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SGCA and Duchenne muscular dystrophy are reported together in 1 article.

Gene

SGCA

4articles

4mentions

0variants with confirmed gene link

Most co-reported phenotypes (articles)

Phenotype

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.

1 records shown · first 60

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	Duchenne muscular dystrophy	“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