Disease ID | Disease name | Source of annotation with EXOC8 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS213300 | JOUBERT SYNDROME | ClinVar | 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 |
---|---|---|
Insulin processing | R-HSA-264876 | 8.28 |
Organelle biogenesis and maintenance | R-HSA-1852241 | 4.63 |
Peptide hormone metabolism | R-HSA-2980736 | 6.61 |
Membrane Trafficking | R-HSA-199991 | 5.26 |
Translocation of GLUT4 to the plasma membrane | R-HSA-1445148 | 6.77 |
Metabolism of proteins | R-HSA-392499 | 3.41 |
VxPx cargo-targeting to cilium | R-HSA-5620916 | 8.59 |
Cargo trafficking to the periciliary membrane | R-HSA-5620920 | 7.31 |
Assembly of the primary cilium | R-HSA-5617833 | 5.44 |
Vesicle-mediated transport | R-HSA-5653656 | 4.33 |
GO term | GO ID | GO IC |
---|---|---|
Ral GTPase binding | GO:0017160 | 7.17 |
enzyme binding | GO:0019899 | 2.27 |
Ras GTPase binding | GO:0017016 | 4.2 |
small GTPase binding | GO:0031267 | 4.13 |
GTPase binding | GO:0051020 | 4.05 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |