Advanced search

Combine gene, variant, phenotype, region and year filters

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.

Knowledge-base search

About your search

EPG5 and neurodevelopmental disorder are reported together in 3 articles.

Gene

EPG5

4articles

4mentions

0variants with confirmed gene link

Most co-reported phenotypes (articles)

Phenotype

450articles

450mentions

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.

3 records shown · first 60

PMID 41053928 | PMCID PMC12577676 | DOI 10.1002/ana.78013 · Annals of neurology · 2025 · 2 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	EPG5	“Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.”	0.98	hgnc_dict_v1
phenotype	neurodevelopmental disorder	“Recessive truncating variants in the autophagy gene EPG5 have been associated with Vici syndrome, a severe early-onset neurodevelopmental disorder with extensive multisystem involvement.”	0.98	phenotype_alias_lexicon_v2

PMID 33120733 | PMCID PMC7581136 | DOI 10.1097/MD.0000000000022302 · Medicine · 2020 · 7 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	EPG5	“Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review.”	0.98	hgnc_dict_v1
phenotype	neurodevelopmental disorder	“RATIONALE: Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, congenital cataracts, cardiomyopathy, combined immunodeficiency, significant developmental delay, and hypopigmentation and in some cases loss of hearing.”	0.98	phenotype_alias_lexicon_v2
phenotype	developmental delay	“RATIONALE: Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, congenital cataracts, cardiomyopathy, combined immunodeficiency, significant developmental delay, and hypopigmentation and in some cases loss of hearing.”	0.98	phenotype_alias_lexicon_v2
phenotype	cardiomyopathy	“RATIONALE: Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, congenital cataracts, cardiomyopathy, combined immunodeficiency, significant developmental delay, and hypopigmentation and in some cases loss of hearing.”	0.98	phenotype_alias_lexicon_v2

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	neurodevelopmental disorder	“EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.”	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