| GENE NAME | NPHP3 |
| CHROMOSOME | 3 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000113971 |
| UNIPROT ACCESSION NUMBER | Q7Z494 |
| GO MOLECULAR FUNCTION | ['protein binding'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-1852241; R-HSA-5617833; R-HSA-5620920; R-HSA-5624138 |
| 7 combinations linked to NPHP3 | OLI359; OLI213; OLI1656; OLI215; OLI211; OLI214; OLI212 |
| 9 variants linked to NPHP3 | NPHP3:IVS24-1G>C, ; NPHP3:c.154G>A, p.Ala52Thr; NPHP3:c.362C>G, p.Thr121Arg; NPHP3:c.435_438del, p.Ser146LeufsTer2; NPHP3:c.3662C>T, p.Ala1221Val; NPHP3:p.Asn386Ser; NPHP3:c.1729C>T, p.Arg577Ter; NPHP3:c.3608delC, p.Ala1203ValfsTer16; NPHP3:c.3550G>A, p.Ala1184Thr |
| 4 diseases linked to NPHP3 | Meckel syndrome; Retinitis pigmentosa; Bardet-Biedl syndrome; Nephronophthisis |