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
OLA1 and neurodevelopmental disorder are reported together in 1 article.
Gene
OLA1
- HGNC
- HGNC:28833
1articles
1mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Neurodevelopmental disorder
- HPO
- HP:0012759
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.
Publications
1 records shown · first 60Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.
PMID 41887223 | PMCID PMC13087460 | DOI 10.1016/j.ajhg.2026.03.001 · American journal of human genetics · 2026 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | OLA1 | “Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.” | 0.98 | hgnc_dict_v1 |
| phenotype | neurodevelopmental disorder | “Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | Ehlers-Danlos syndrome | “The hypermobility phenotype evoked a diagnosis of Ehlers-Danlos syndrome (EDS) in some affected individuals.” | 0.98 | phenotype_alias_lexicon_v2 |