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Editorially curated · sa-pavs
Phenotype-Associated Variants in Saudi Arabia
Harmonizes Saudi genotype-phenotype evidence with GA4GH Phenopackets and RDF to support rare-disease discovery and semantic queries.
01 / Project overview
What the record establishes.
- Geographic scope
- Aggregated Saudi clinical cohorts with international comparison datasets
- Project type
- Rare-disease genotype-phenotype knowledgebase
- Research domain
- Mendelian disease and semantic genomics
- Years
- Not stated
- Lifecycle status
- active
- Status basis
- Public browser, SPARQL endpoint, API and downloads were operational; the resource was described in an April 2026 medRxiv preprint.
- Status evidence date
- 2026-08-15
- Scale
- 5,132 Saudi clinical cases from four cohorts, 522 cases from a mixed cohort and 1,856 DDD cases; 2,389 genes and 3,528 diseases.
02 / Organizations and population
Who and what the project connects.
- Lead organizations
- King Abdullah University of Science and Technology Bio-Ontology Research Group
- Partner organizations
- Saudi rare-disease data contributors
- Organism / population
- Saudi rare-disease cases plus mixed and Deciphering Developmental Disorders comparison cohorts
03 / Data and access
What exists and how it can be reached.
Data types
- variants
- HPO phenotypes
- GA4GH Phenopackets
- RDF knowledge graph
Data access
Public browser, API, SPARQL endpoint and downloads; source-level restrictions may remain
Identifiers
No public accession or identifier is listed for this record.
04 / Evidence and provenance
Why the record is included.
Inclusion basis
Named, public, multi-cohort Saudi rare-disease knowledgebase with thousands of cases.
Editorial note
Aggregated resource, not a newly recruited cohort. Saudi cases overlap historical SHGP/rare-disease cohorts. Publication remained a preprint at verification.
Sources
- primary record source Verified 2026-08-15
- additional record source Verified 2026-08-15
Release v0.2.0