Disease ID | Disease name | Source of annotation with PDE6D | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS213300 | JOUBERT SYNDROME | ClinVar, OMIM | 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
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Purine metabolism | hsa00230 | 5.28 |
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 |
---|---|---|
hydrolase activity | GO:0016787 | 1.9 |
cyclic-nucleotide phosphodiesterase activity | GO:0004112 | 6.48 |
enzyme binding | GO:0019899 | 2.27 |
GTPase regulator activity | GO:0030695 | 4.01 |
3',5'-cyclic-nucleotide phosphodiesterase activity | GO:0004114 | 6.52 |
enzyme regulator activity | GO:0030234 | 2.85 |
phosphoric diester hydrolase activity | GO:0008081 | 5.23 |
Rab GTPase binding | GO:0017137 | 4.96 |
hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
GTPase inhibitor activity | GO:0005095 | 7.1 |
phosphoric ester hydrolase activity | GO:0042578 | 3.82 |
small GTPase binding | GO:0031267 | 4.13 |
GTPase binding | GO:0051020 | 4.05 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
Ras GTPase binding | GO:0017016 | 4.2 |
enzyme inhibitor activity | GO:0004857 | 3.78 |
molecular function regulator | GO:0098772 | 2.51 |
nucleoside-triphosphatase regulator activity | GO:0060589 | 3.92 |
catalytic activity | GO:0003824 | 1.05 |