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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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EPG5 and epilepsy are reported together in 1 article.

Gene

EPG5

4articles

4mentions

0variants with confirmed gene link

Most co-reported phenotypes (articles)

Phenotype

2,084articles

2,084mentions

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 26917586 | PMCID PMC4766378 | DOI 10.1093/brain/awv393 · Brain : a journal of neurology · 2016 · 7 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	EPG5	“Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5.”	0.98	hgnc_dict_v1
phenotype	epilepsy	“Two-thirds of patients had a severe seizure disorder, placing EPG5 within the rapidly expanding group of genes associated with early-onset epileptic encephalopathies.”	0.93	phenotype_alias_lexicon_v2
phenotype	developmental delay	“In addition to the five principal features (callosal agenesis, cataracts, hypopigmentation, cardiomyopathy, and immune dysfunction), we identified three equally consistent features (profound developmental delay, progressive microcephaly, and failure to thrive).”	0.98	phenotype_alias_lexicon_v2
phenotype	cardiomyopathy	“In addition to the five principal features (callosal agenesis, cataracts, hypopigmentation, cardiomyopathy, and immune dysfunction), we identified three equally consistent features (profound developmental delay, progressive microcephaly, and failure to thrive).”	0.98	phenotype_alias_lexicon_v2