CDH23
HGNC:13733 · SaudiVarKB evidence summary derived from retained literature mentions.
4Gene mentions
4Publications
3Linked variants
3Associated phenotypes
Associated phenotypes
Co-mentioned in CDH23 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| hearing loss | HP:0000365 | 1 | 1 |
| COVID-19 | — | 1 | 1 |
| SARS | — | 1 | 1 |
Linked variants
Variants normalized to CDH23| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| p.Asp918Asn | p.Asp918Asn | 1 | 1 |
| p.Val1670Asp | p.Val1670Asp | 1 | 1 |
| p.Ala874Asp | p.Ala874Asp | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 1 |
| Saudi Arabia | — | 73 | 1 |
| Saudi Arabia · Tabuk | — | 19 | 1 |
Supporting publications
4 records- 2026A novel germline CDH23 variant as a likely cause of an ultra-giant prolactinoma.Orphanet journal of rare diseasesPubMed ↗
- 2024Germline Variants in Sporadic Pituitary Adenomas.Journal of the Endocrine SocietyPubMed ↗
- 2024Whole-Exome Sequencing Detecting a Recurrent Pathogenic Mutation, HFE p.His63Asp (H63D) in COVID-19 Patients and Its Effect on Mortality.Discovery medicinePubMed ↗
- 2020Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss.GenesPubMed ↗