Disease ID | Disease name | Source of annotation with INPP5E | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
610156 | MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME | ClinVar, OMIM | link to OMIM | 1 | INPP5E |
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 |
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KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Inositol phosphate metabolism | hsa00562 | 6.72 |
Metabolic pathways | hsa01100 | 2.49 |
Phosphatidylinositol signaling system | hsa04070 | 6.38 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Synthesis of PIPs at the Golgi membrane | R-HSA-1660514 | 8.81 |
ARL13B-mediated ciliary trafficking of INPP5E | R-HSA-5624958 | 11.4 |
Organelle biogenesis and maintenance | R-HSA-1852241 | 4.63 |
Phospholipid metabolism | R-HSA-1483257 | 5.83 |
PI Metabolism | R-HSA-1483255 | 7.31 |
Metabolism | R-HSA-1430728 | 2.34 |
Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
Cargo trafficking to the periciliary membrane | R-HSA-5620920 | 7.31 |
Assembly of the primary cilium | R-HSA-5617833 | 5.44 |
GO term | GO ID | GO IC |
---|---|---|
phosphoric ester hydrolase activity | GO:0042578 | 3.82 |
phosphatase activity | GO:0016791 | 4.11 |
hydrolase activity | GO:0016787 | 1.9 |
inositol trisphosphate phosphatase activity | GO:0046030 | 7.34 |
hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
inositol phosphate phosphatase activity | GO:0052745 | 6.74 |
phosphatidylinositol bisphosphate phosphatase activity | GO:0034593 | 6.44 |
catalytic activity | GO:0003824 | 1.05 |
phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity | GO:0004439 | 7.66 |
phosphatidylinositol phosphate 5-phosphatase activity | GO:0034595 | 7.17 |
inositol-polyphosphate 5-phosphatase activity | GO:0004445 | 8.13 |
phosphatidylinositol phosphate phosphatase activity | GO:0052866 | 6.34 |