| GENE NAME | NPHP1 |
| CHROMOSOME | 2 |
| ENSEMBL ID | ENSG00000144061 |
| ENTREZ ID | 4867 |
| UNIPROT ACCESSION NUMBER | O15259 |
| GO MOLECULAR FUNCTION | protein binding |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | R-HSA-5620912; R-HSA-5617833; R-HSA-1852241 |
| 5 combinations linked to NPHP1 | OLI622; OLI211; OLI616; OLI623; OLI617 |
| 3 variants linked to NPHP1 | Copy Number Variant deletion on chromosome 2 of the whole gene in the gene NPHP1; NPHP1:c.1756C>T, p.Arg586Ter; NPHP1:c.14G>T, p.Arg5Leu |
| 3 diseases linked to NPHP1 | Nephronophthisis; Bardet-Biedl syndrome; Retinitis pigmentosa |