GO Term | Evidence Code | PMID |
---|---|---|
positive regulation of autophagy | ||
membrane organization |
|
|
cell migration | ||
positive regulation of cell migration involved in sprouting angiogenesis | ||
vascular associated smooth muscle contraction |
|
GO Term | Evidence Code | PMID |
---|---|---|
nucleoplasm |
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:0004322 | Short stature |
HP:0005257 | Thoracic hypoplasia |
HP:0005280 | Depressed nasal bridge |
HP:0006297 | Enamel hypoplasia |
HP:0006989 | Dysplastic corpus callosum |
HP:0007042 | Focal white matter lesions |
HP:0008155 | Mucopolysacchariduria |
HP:0009237 | Short 5th finger |
HP:0009928 | Thick nasal alae |
HP:0010663 | Abnormal thalamus morphology |
Disease ID | Disease Name |
---|---|
OMIM:618440 |
|
ORPHA:557003 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102007989 | CHILA04112 | ||
108245738 | KRYMA22140 | ||
105720212 | AOTNA04747 | ||
110220993 | PHACI00476 | ||
101041368 | SAIBB00332 | ||
111229571 | SERDU10377 | ||
108435349 | PYGNA19236 | ||
103156569 | POEFO21285 | ||
101611154 | JACJA01692 | ||
118314823 | SCOMX00043 |
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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