| Disease ID | Disease name | Source of annotation with ARL13B | 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 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| ARL13B-mediated ciliary trafficking of INPP5E | R-HSA-5624958 | 11.4 |
| 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 |
| GO term | GO ID | GO IC |
|---|---|---|
| guanyl ribonucleotide binding | GO:0032561 | 3.73 |
| guanyl nucleotide binding | GO:0019001 | 3.73 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| small molecule binding | GO:0036094 | 1.89 |
| ribonucleotide binding | GO:0032553 | 2.19 |
| nucleoside binding | GO:0001882 | 2.21 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| ribonucleoside binding | GO:0032549 | 2.22 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| nucleotide binding | GO:0000166 | 1.96 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| purine nucleoside binding | GO:0001883 | 2.22 |
| GTP binding | GO:0005525 | 3.78 |