Identity
HGNC
LOCATION
10q24.31
LOCUSID
ALIAS
DFNB57,PDZK7
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: 79955
MIM: 612971
HGNC: 26257
Ensembl: ENSG00000186862
Variants:
dbSNP: 79955
ClinVar: 79955
TCGA: ENSG00000186862
COSMIC: PDZD7
RNA/Proteins
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38956522 | 2024 | Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia. | 0 |
| 38956522 | 2024 | Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia. | 0 |
| 35715776 | 2022 | Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss. | 1 |
| 35715776 | 2022 | Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss. | 1 |
| 30786928 | 2019 | Lnc-PDZD7 contributes to stemness properties and chemosensitivity in hepatocellular carcinoma through EZH2-mediated ATOH8 transcriptional repression. | 26 |
| 31129248 | 2019 | Novel recessive PDZD7 biallelic mutations associated with hereditary hearing loss in a Chinese pedigree. | 6 |
| 31454969 | 2019 | Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans. | 15 |
| 30786928 | 2019 | Lnc-PDZD7 contributes to stemness properties and chemosensitivity in hepatocellular carcinoma through EZH2-mediated ATOH8 transcriptional repression. | 26 |
| 31129248 | 2019 | Novel recessive PDZD7 biallelic mutations associated with hereditary hearing loss in a Chinese pedigree. | 6 |
| 31454969 | 2019 | Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans. | 15 |
| 29048736 | 2018 | Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss. | 11 |
| 29048736 | 2018 | Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss. | 11 |
| 26849169 | 2016 | Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene. | 17 |
| 26849169 | 2016 | Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene. | 17 |
| 26416264 | 2015 | PDZD7 and hearing loss: More than just a modifier. | 33 |
Citation
Dessen P
PDZD7 (PDZ domain containing 7)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71817/pdzd7-(pdz-domain-containing-7)
