| Disease ID | Disease name | Source of annotation with RPGRIP1L | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS213300 | JOUBERT SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 27 | TCTN1, C5orf42, PDE6D, ARL13B, KIF7, TMEM231, TMEM67, KIAA0586, CC2D2A, MKS1, CEP104, AHI1, CEP41, ZNF423, EXOC8, CEP290, TCTN3, NPHP1, INPP5E, OFD1, TMEM237, TMEM216, KIAA0556, CSPP1, TMEM138, RPGRIP1L, TCTN2 |
| PS249000 | MECKEL SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 12 | NPHP3, TMEM67, TMEM216, B9D2, CC2D2A, B9D1, RPGRIP1L, MKS1, CEP290, TCTN2, KIF14, TMEM231 |
| 216360 | COACH SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | TMEM67, RPGRIP1L, CC2D2A |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Hedgehog 'off' state | R-HSA-5610787 | 6.19 |
| 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 Hedgehog | R-HSA-5358351 | 5.79 |
| Assembly of the primary cilium | R-HSA-5617833 | 5.44 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| thromboxane A2 receptor binding | GO:0031870 | 9.74 |
| prostanoid receptor binding | GO:0031862 | 9.05 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| G-protein coupled receptor binding | GO:0001664 | 4.18 |
| receptor binding | GO:0005102 | 2.43 |