Identity
HGNC
LOCATION
10q22.1
LOCUSID
ALIAS
CDHR23,PITA5,USH1D
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 64072
MIM: 605516
HGNC: 13733
Ensembl: ENSG00000107736
Variants:
dbSNP: 64072
ClinVar: 64072
TCGA: ENSG00000107736
COSMIC: CDH23
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA447197 | Attention Deficit Disorder with Hyperactivity | Disease | ClinicalAnnotation | associated | PD | 29382897 | |
| PA450464 | methylphenidate | Chemical | ClinicalAnnotation | associated | PD | 29382897 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38546281 | 2024 | Identification of Coding Variants in 10q22.1 Associated with Vitiligo in the Chinese Han Population. | 0 |
| 38720048 | 2024 | Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants. | 0 |
| 38546281 | 2024 | Identification of Coding Variants in 10q22.1 Associated with Vitiligo in the Chinese Han Population. | 0 |
| 38720048 | 2024 | Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants. | 0 |
| 37088079 | 2023 | A Novel Biallelic Variant in CDH23 Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation. | 1 |
| 37088079 | 2023 | A Novel Biallelic Variant in CDH23 Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation. | 1 |
| 34752165 | 2022 | Cochlear Implantation Outcomes in Children With CDH23 Mutations-Associated Hearing Loss. | 2 |
| 35786118 | 2022 | Association between genetic polymorphisms of cadherin 23 and noise-induced hearing loss: a meta-analysis. | 2 |
| 34752165 | 2022 | Cochlear Implantation Outcomes in Children With CDH23 Mutations-Associated Hearing Loss. | 2 |
| 35786118 | 2022 | Association between genetic polymorphisms of cadherin 23 and noise-induced hearing loss: a meta-analysis. | 2 |
| 33794607 | 2021 | [Nonsyndromic deafness due to compound heterozygous mutation of the CDH23 gene]. | 2 |
| 34252883 | 2021 | Methylation silencing CDH23 is a poor prognostic marker in diffuse large B-cell lymphoma. | 3 |
| 33794607 | 2021 | [Nonsyndromic deafness due to compound heterozygous mutation of the CDH23 gene]. | 2 |
| 34252883 | 2021 | Methylation silencing CDH23 is a poor prognostic marker in diffuse large B-cell lymphoma. | 3 |
| 32276436 | 2020 | High-Throughput Sequencing Identifies 3 Novel Susceptibility Genes for Hereditary Melanoma. | 9 |
Citation
Dessen P
CDH23 (cadherin related 23)
Atlas Genet Cytogenet Oncol Haematol. 2012-08-01
Online version: http://atlasgeneticsoncology.org/gene/52846/cdh23-(cadherin-related-23)
