UniProt | Protein Name |
---|---|
P98160 |
|
GO Term | Evidence Code | PMID |
---|---|---|
animal organ regeneration | ||
brain development |
|
|
response to xenobiotic stimulus | ||
angiogenesis | ||
positive regulation of endothelial cell proliferation |
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:0110213 | isolated cleft palate | |
DOID:0110273 | autosomal dominant limb-girdle muscular dystrophy | |
DOID:0110274 | autosomal recessive limb-girdle muscular dystrophy | |
DOID:0110275 | autosomal recessive limb-girdle muscular dystrophy type 2A | |
DOID:0110276 | autosomal recessive limb-girdle muscular dystrophy type 2B | |
DOID:0110277 | autosomal recessive limb-girdle muscular dystrophy type 2C | |
DOID:0110278 | autosomal recessive limb-girdle muscular dystrophy type 2D | |
DOID:0110279 | autosomal recessive limb-girdle muscular dystrophy type 2E | |
DOID:0110280 | autosomal recessive limb-girdle muscular dystrophy type 2F | |
DOID:0110281 | autosomal recessive limb-girdle muscular dystrophy type 2G |
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 |
---|---|---|---|
107568451 | SINGR94226 | ||
111562749 | AMPOC12423 | ||
109520187 | HIPCM19643 | ||
105290659 | PTEVA10484 | ||
105815659 | PROCO24009 | ||
109055269 | CYPCA128260 | ||
109056836 | CYPCA118331 | ||
103265029 | CARSF12233 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024