| Disease ID | Disease name | Source of annotation with NPHP3 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS208540 | RENAL-HEPATIC-PANCREATIC DYSPLASIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | NPHP3, NEK8 |
| PS249000 | MECKEL SYNDROME | ClinVar, OMIM | link to OMIM | 12 | NPHP3, TMEM67, TMEM216, B9D2, CC2D2A, B9D1, RPGRIP1L, MKS1, CEP290, TCTN2, KIF14, TMEM231 |
| PS256100 | NEPHRONOPHTHISIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 15 | NPHP3, XPNPEP3, NEK8, TTC21B, DCDC2, TMEM67, WDR19, ZNF423, CEP164, NPHP4, ANKS6, NPHP1, INVS, GLIS2, CEP83 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Cargo trafficking to the periciliary membrane | R-HSA-5620920 | 7.31 |
| Organelle biogenesis and maintenance | R-HSA-1852241 | 4.63 |
| Assembly of the primary cilium | R-HSA-5617833 | 5.44 |
| Trafficking of myristoylated proteins to the cilium | R-HSA-5624138 | 10.66 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | GO:0016818 | 3.03 |
| catalytic activity | GO:0003824 | 1.05 |
| nucleoside-triphosphatase activity | GO:0017111 | 3.09 |
| hydrolase activity, acting on acid anhydrides | GO:0016817 | 3.03 |
| pyrophosphatase activity | GO:0016462 | 3.04 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| motor activity | GO:0003774 | 4.81 |
| microtubule motor activity | GO:0003777 | 5.34 |