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:0110282 | autosomal recessive limb-girdle muscular dystrophy type 2H | |
DOID:0110283 | autosomal recessive limb-girdle muscular dystrophy type 2J | |
DOID:0110284 | autosomal recessive limb-girdle muscular dystrophy type 2L | |
DOID:0110285 | autosomal recessive limb-girdle muscular dystrophy type 2Q | |
DOID:0110286 | obsolete autosomal recessive limb-girdle muscular dystrophy type 2R | |
DOID:0110287 | autosomal recessive limb-girdle muscular dystrophy type 2S | |
DOID:0110289 | autosomal recessive limb-girdle muscular dystrophy type 2Y | |
DOID:0110292 | autosomal recessive limb-girdle muscular dystrophy type 2O | |
DOID:0110293 | autosomal recessive limb-girdle muscular dystrophy type 2P | |
DOID:0110294 | autosomal recessive limb-girdle muscular dystrophy type 2T |
HPO ID | HPO Term |
---|---|
HP:0000520 | Proptosis |
HP:0000534 | Abnormal eyebrow morphology |
HP:0000545 | Myopia |
HP:0000581 | Blepharophimosis |
HP:0000600 | Abnormality of the pharynx |
HP:0000639 | Nystagmus |
HP:0000643 | Blepharospasm |
HP:0000648 | Optic atrophy |
HP:0000689 | Dental malocclusion |
HP:0000708 | Atypical behavior |
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