Identity
HGNC
LOCATION
10q23.1
LOCUSID
ALIAS
CORD15,PCDH21,PRCAD,RP65
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: 92211
MIM: 609502
HGNC: 14550
Ensembl: ENSG00000148600
Variants:
dbSNP: 92211
ClinVar: 92211
TCGA: ENSG00000148600
COSMIC: CDHR1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35627310 | 2022 | Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies. | 2 |
| 35627310 | 2022 | Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies. | 2 |
| 32681094 | 2021 | A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy. | 5 |
| 33964272 | 2021 | Deep phenotyping of the Cdhr1(-/-) mouse validates its use in pre-clinical studies for human CDHR1-associated retinal degeneration. | 3 |
| 34229535 | 2021 | A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient with cone-rod dystrophy. | 1 |
| 32681094 | 2021 | A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy. | 5 |
| 33964272 | 2021 | Deep phenotyping of the Cdhr1(-/-) mouse validates its use in pre-clinical studies for human CDHR1-associated retinal degeneration. | 3 |
| 34229535 | 2021 | A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient with cone-rod dystrophy. | 1 |
| 32277948 | 2020 | Identification of a novel homozygous nonsense mutation in the CDHR1 gene in a Chinese family with autosomal recessive retinitis pigmentosa. | 2 |
| 32277948 | 2020 | Identification of a novel homozygous nonsense mutation in the CDHR1 gene in a Chinese family with autosomal recessive retinitis pigmentosa. | 2 |
| 31387115 | 2019 | A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping. | 9 |
| 31387115 | 2019 | A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping. | 9 |
| 28885867 | 2018 | Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature. | 11 |
| 30160356 | 2018 | A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis. | 14 |
| 28885867 | 2018 | Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature. | 11 |
Citation
Dessen P
CDHR1 (cadherin related family member 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61650/cdhr1-(cadherin-related-family-member-1)
