Identity
HGNC
LOCATION
14q12
LOCUSID
ALIAS
COCH-5B2,COCH5B2,DFNA9,DFNB110
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: 1690
MIM: 603196
HGNC: 2180
Ensembl: ENSG00000100473
Variants:
dbSNP: 1690
ClinVar: 1690
TCGA: ENSG00000100473
COSMIC: COCH
RNA/Proteins
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38167558 | 2024 | Interaural and sex differences in the natural evolution of hearing levels in pre-symptomatic and symptomatic carriers of the p.Pro51Ser variant in the COCH gene. | 0 |
| 38167558 | 2024 | Interaural and sex differences in the natural evolution of hearing levels in pre-symptomatic and symptomatic carriers of the p.Pro51Ser variant in the COCH gene. | 0 |
| 36717952 | 2023 | Inhibiting KCNMA1-AS1 promotes osteogenic differentiation of HBMSCs via miR-1303/cochlin axis. | 1 |
| 37709329 | 2023 | Evaluation of hearing levels and vestibular function and the impact on cognitive performance in (pre)-symptomatic patients with DFNA9: protocol for a prospective longitudinal study (Rosetta study). | 0 |
| 36717952 | 2023 | Inhibiting KCNMA1-AS1 promotes osteogenic differentiation of HBMSCs via miR-1303/cochlin axis. | 1 |
| 37709329 | 2023 | Evaluation of hearing levels and vestibular function and the impact on cognitive performance in (pre)-symptomatic patients with DFNA9: protocol for a prospective longitudinal study (Rosetta study). | 0 |
| 35020687 | 2022 | Does Vestibulo-Ocular Reflex (VOR) Gain Correlate With Radiological Findings in the Semi-Circular Canals in Patients Carrying the p.Pro51Ser (P51S) COCH Variant Causing DFNA9? Relationship Between the Three-Dimensional Video Head Impulse Test (vHIT) and MR/CT Imaging. | 0 |
| 35204720 | 2022 | Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis. | 6 |
| 35020687 | 2022 | Does Vestibulo-Ocular Reflex (VOR) Gain Correlate With Radiological Findings in the Semi-Circular Canals in Patients Carrying the p.Pro51Ser (P51S) COCH Variant Causing DFNA9? Relationship Between the Three-Dimensional Video Head Impulse Test (vHIT) and MR/CT Imaging. | 0 |
| 35204720 | 2022 | Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis. | 6 |
| 32939038 | 2021 | Homozygote loss-of-function variants in the human COCH gene underlie hearing loss. | 5 |
| 33421658 | 2021 | On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice. | 12 |
| 33710989 | 2021 | A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype. | 2 |
| 34369416 | 2021 | Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9): Part I-A Cross-sectional Study of Hearing Function in 111 Carriers. | 7 |
| 32939038 | 2021 | Homozygote loss-of-function variants in the human COCH gene underlie hearing loss. | 5 |
Citation
Dessen P
COCH (cochlin)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/40121/coch
