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
ACO2 and epilepsy are reported together in 1 article.
Gene
ACO2
- HGNC
- HGNC:118
5articles
5mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Epilepsy
- HPO
- HP:0001250
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.
Publications
1 records shown · first 60Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.
PMID 32519519 | PMCID PMC7318087 | DOI 10.1002/acn3.51074 · Annals of clinical and translational neurology · 2020 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ACO2 | “Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “One patient presented with the classic form with cerebellar hypoplasia, ataxia, seizures, optic atrophy, and retinitis pigmentosa.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | retinitis pigmentosa | “One patient presented with the classic form with cerebellar hypoplasia, ataxia, seizures, optic atrophy, and retinitis pigmentosa.” | 0.98 | phenotype_alias_lexicon_v2 |