Disease ID | Disease name | Source of annotation with NPHP4 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
606996 | SENIOR-LOKEN SYNDROME 4 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | NPHP4 |
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 |
---|---|---|
Assembly of the primary cilium | R-HSA-5617833 | 5.44 |
Organelle biogenesis and maintenance | R-HSA-1852241 | 4.63 |
Anchoring of the basal body to the plasma membrane | R-HSA-5620912 | 6.51 |
Signaling by Hippo | R-HSA-2028269 | 8.66 |
Signal Transduction | R-HSA-162582 | 1.78 |
GO term | GO ID | GO IC |
---|---|---|
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
structural molecule activity | GO:0005198 | 3.1 |