GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylinositol 3-kinase/protein kinase B signal transduction | ||
exocytosis |
|
|
phosphatidylinositol-3-phosphate biosynthetic process | ||
phosphatidylinositol biosynthetic process |
|
|
clathrin coat assembly |
|
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:0000365 | Hearing impairment |
HP:0000405 | Conductive hearing impairment |
HP:0000407 | Sensorineural hearing impairment |
HP:0000431 | Wide nasal bridge |
HP:0000501 | Glaucoma |
HP:0000519 | Developmental cataract |
HP:0000599 | Abnormality of the frontal hairline |
HP:0000677 | Oligodontia |
HP:0000691 | Microdontia |
HP:0000766 | Abnormal sternum morphology |
Disease ID | Disease Name |
---|---|
OMIM:618440 |
|
ORPHA:557003 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
107567881 | SINGR93447 | ||
111580508 | AMPOC28494 | ||
106835478 | EQUAS11894 | ||
116835939 | CHEAB09890 | ||
109530836 | HIPCM14736 | ||
105304234 | PTEVA16589 | ||
115055930 | ECHNA54868 | ||
115392098 | SALFA27511 | ||
113481213 | ATHCN18353 | ||
103379820 | CYNSE25123 |
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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