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EPG5 and Gaucher disease are reported together in 1 article.
Gene
EPG5
- HGNC
- HGNC:29331
4articles
4mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Gaucher disease
25articles
25mentions
5co-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 60A Saudi Infant with Vici Syndrome: Case Report and Literature Review.
PMID 29983806 | PMCID PMC6026433 | DOI 10.3889/oamjms.2018.271 · Open access Macedonian journal of medical sciences · 2018 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | EPG5 | “At 7 months, genetic testing confirmed the diagnosis of Vici syndrome with a c.3693G>Ap (Gln1231Gln) mutation in the gene EPG5.” | 0.98 | hgnc_dict_v1 |
| phenotype | Gaucher disease | “CASE DESCRIPTION: The parents are a consanguineous Saudi couple with two other children diagnosed with Gaucher disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | cardiomyopathy | “The syndrome is characterised by agenesis of the corpus callosum, hypopigmentation, cardiomyopathy, progressive failure to thrive, dysmorphic features, immunodeficiency and cataracts.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “A Saudi Infant with Vici Syndrome: Case Report and Literature Review. Only 78 cases have been reported to date. CASE DESCRIPTION: The parents are a consanguineous Saudi couple with two other children diagnosed with Gaucher disease.” | 0.95 | saudi_context_rules_v1 |