| GENE NAME | PKHD1 |
| CHROMOSOME | 6 |
| ENSEMBL ID | ENSG00000170927 |
| ENTREZ ID | 5314 |
| UNIPROT ACCESSION NUMBER | P08F94 |
| GO MOLECULAR FUNCTION | signaling receptor activity; protein binding |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | |
| 2 combinations linked to PKHD1 | OLI963; OLI216 |
| 3 variants linked to PKHD1 | PKHD1:p.Cys3346Arg; PKHD1:c.1675C>T, p.Arg559Trp; PKHD1:c.7942G>A, p.Gly2648Ser |
| 2 diseases linked to PKHD1 | Autosomal recessive polycystic kidney disease; Meckel syndrome |