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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.

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NEB and cardiomyopathy are reported together in 1 article.

Gene

NEB

4articles

4mentions

0variants with confirmed gene link

Most co-reported phenotypes (articles)

Phenotype

618articles

618mentions

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 31127036 | PMCID PMC6672024 | DOI 10.1101/mcs.a004184 · Cold Spring Harbor molecular case studies · 2019 · 4 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	NEB	“Further analysis revealed that two of these are likely benign, but a homozygous frameshift variant in the myosin light chain 2 gene, MYL2, and a heterozygous nonsense mutation in the nebulin gene, NEB, met criteria to be classified as likely pathogenic or pathogenic.”	0.98	hgnc_dict_v1
phenotype	cardiomyopathy	“MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing.”	0.98	phenotype_alias_lexicon_v2
gene	MYL2	“Further analysis revealed that two of these are likely benign, but a homozygous frameshift variant in the myosin light chain 2 gene, MYL2, and a heterozygous nonsense mutation in the nebulin gene, NEB, met criteria to be classified as likely pathogenic or pathogenic.”	0.98	hgnc_dict_v1
phenotype	congenital myopathy	“Recessive MYL2 mutations are a rare cause of CFTD associated with both skeletal and cardiomyopathy, whereas recessive NEB mutations cause nemaline myopathy.”	0.93	phenotype_alias_lexicon_v2