ADGRV1
HGNC:17416 · SaudiVarKB evidence summary derived from retained literature mentions.
4Gene mentions
4Publications
0Linked variants
5Associated phenotypes
Associated phenotypes
Co-mentioned in ADGRV1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| epilepsy | HP:0001250 | 1 | 1 |
| hearing loss | HP:0000365 | 1 | 1 |
| retinal dystrophy | HP:0000556 | 1 | 1 |
| retinitis pigmentosa | — | 1 | 1 |
| stroke | — | 1 | 1 |
Linked variants
Variants normalized to ADGRV1| Variant | HGVS / rsID | Articles | Mentions |
|---|
No normalized variants are linked to this gene.
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 40 | 1 |
| Saudi Arabia | — | 514 | 1 |
Supporting publications
4 records- 2026Rare coding variation and stroke heterogeneity in Saudi Arabia: an exome‑wide association study across severity, etiology, vascular territory, and early‑onset disease.BMC neurologyPubMed ↗
- 2024Usher syndrome in the United Arab Emirates.Ophthalmic geneticsPubMed ↗
- 2023Adenylyl cyclase 6 plays a minor role in the mouse inner ear and retina.Scientific reportsPubMed ↗
- 2021Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy.Frontiers in neurologyPubMed ↗