UniProt | Protein Name |
---|---|
P98160 |
|
GO Term | Evidence Code | PMID |
---|---|---|
negative regulation of cell population proliferation | ||
negative regulation of angiogenesis |
|
|
negative regulation of cell adhesion | ||
receptor-mediated endocytosis | ||
smoothened signaling pathway |
GO Term | Evidence Code | PMID |
---|---|---|
extracellular region | ||
Golgi lumen |
|
|
basement membrane |
|
|
plasma membrane |
|
|
focal adhesion |
GO Term | Evidence Code | PMID |
---|---|---|
low-density lipoprotein particle receptor binding |
|
|
amyloid-beta binding | ||
extracellular matrix structural constituent conferring compression resistance | ||
calcium ion binding | ||
protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:0050185 | erythema multiforme | |
DOID:0050426 | Stevens-Johnson syndrome | |
DOID:0050453 | lissencephaly | |
DOID:0050569 | Seckel syndrome | |
DOID:0050663 | Bethlem myopathy | |
DOID:0050741 | alcohol dependence | |
DOID:0050759 | myotonic dystrophy type 2 | |
DOID:0050766 | choreaacanthocytosis | |
DOID:0050777 | Joubert syndrome | |
DOID:0050788 | proximal symphalangism |
HPO ID | HPO Term |
---|---|
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
HP:0001265 | Hyporeflexia |
HP:0001274 | Agenesis of corpus callosum |
HP:0001276 | Hypertonia |
HP:0001288 | Gait disturbance |
HP:0001324 | Muscle weakness |
HP:0001344 | Absent speech |
HP:0001362 | Calvarial skull defect |
HP:0001371 | Flexion contracture |
Disease ID | Disease Name |
---|---|
ORPHA:1606 |
|
ORPHA:800 |
|
ORPHA:1865 |
|
OMIM:255800 |
|
OMIM:224410 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102011947 | CHILA13310 | ||
108237624 | KRYMA12539 | ||
105708530 | AOTNA06271 | ||
101035920 | SAIBB24446 | ||
111234870 | SERDU15608 | ||
101977229 | ICTTR08811 | ||
101604838 | JACJA08831 | ||
117026763 | RHIFE01766 | ||
103225428 | CHLSB09274 | ||
104663240 | RHIRO12474 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024