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:0000821 | Hypothyroidism |
HP:0001263 | Global developmental delay |
HP:0001297 | Stroke |
HP:0001328 | Specific learning disability |
HP:0001518 | Small for gestational age |
HP:0001744 | Splenomegaly |
HP:0001999 | Abnormal facial shape |
HP:0002150 | Hypercalciuria |
HP:0002162 | Low posterior hairline |
HP:0002240 | Hepatomegaly |
Disease ID | Disease Name |
---|---|
OMIM:618440 |
|
ORPHA:557003 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102421390 | MYOLU08324 | ||
117030246 | RHIFE30371 | ||
100219982 | TAEGU26498 | ||
101813229 | FICAL08479 | ||
103242212 | CHLSB00623 | ||
108530624 | RHIBE37401 | ||
104662349 | RHIRO39327 | ||
100597578 | NOMLE09568 | ||
114598648 | PODMU06998 | ||
107562115 | SINGR81610 |
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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