| GENE NAME | PDZD7 |
| CHROMOSOME | 10 |
| ENSEMBL ID | ENSG00000186862 |
| ENTREZ ID | 79955 |
| UNIPROT ACCESSION NUMBER | Q9H5P4 |
| GO MOLECULAR FUNCTION | protein binding; identical protein binding |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | |
| 5 combinations linked to PDZD7 | OLI552; OLI120; OLI254; OLI121; OLI122 |
| 5 variants linked to PDZD7 | PDZD7:c.166dup, p.Arg56ProfsTer24; PDZD7:c.1750-2A>G, ; PDZD7:c.2194_2203del, p.Cys732LeufsTer18; PDZD7:c.76_77del, p.Ser26LeufsTer53; PDZD7:c.1543C>T, p.Gln515Ter |
| 3 diseases linked to PDZD7 | Usher syndrome type 2; Non-syndromic genetic deafness; Retinitis pigmentosa |