GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylinositol-mediated signaling | ||
endocytosis | ||
platelet-derived growth factor receptor signaling pathway |
|
|
insulin receptor signaling pathway |
|
|
epidermal growth factor receptor signaling pathway |
|
GO Term | Evidence Code | PMID |
---|---|---|
clathrin-coated vesicle | ||
plasma membrane | ||
phosphatidylinositol 3-kinase complex | ||
membrane | ||
extracellular exosome |
GO Term | Evidence Code | PMID |
---|---|---|
1-phosphatidylinositol-3-kinase activity | ||
1-phosphatidylinositol-4-phosphate 3-kinase activity | ||
phosphatidylinositol binding | ||
1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity | ||
ATP binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050328 | congenital hypothyroidism | |
DOID:0050459 | hyperphosphatemia | |
DOID:0050526 | Gamstorp-Wohlfart syndrome | |
DOID:0050557 | congenital muscular dystrophy | |
DOID:0050591 | tooth agenesis | |
DOID:0050759 | myotonic dystrophy type 2 | |
DOID:0050766 | choreaacanthocytosis | |
DOID:0050841 | focal hand dystonia | |
DOID:0050989 | episodic ataxia type 1 | |
DOID:0060249 | scoliosis |
HPO ID | HPO Term |
---|---|
HP:0002243 | Protein-losing enteropathy |
HP:0002300 | Mutism |
HP:0002650 | Scoliosis |
HP:0002750 | Delayed skeletal maturation |
HP:0002901 | Hypocalcemia |
HP:0002942 | Thoracic kyphosis |
HP:0002987 | Elbow flexion contracture |
HP:0003072 | Hypercalcemia |
HP:0003090 | Hypoplasia of the capital femoral epiphysis |
HP:0003307 | Hyperlordosis |
Disease ID | Disease Name |
---|---|
OMIM:618440 |
|
ORPHA:557003 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
181618 | WB:WBGene00009552 | ||
39329 | FB:FBgn0015278 | ||
103174900 | CALMI06426 | ||
102346693 | LATCH17395 | ||
571356 | ZFIN:ZDB-GENE-030328-39 | DANRE49790 | |
113576605 | ELEEL19029 | ||
105018471 | ESOLU57744 | ||
106584631 | SALSA86476 | ||
115192791 | SALTR31003 | ||
115197088 | SALTR12683 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024