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:0002486 | Myotonia |
HP:0002515 | Waddling gait |
HP:0002591 | Polyphagia |
HP:0002645 | Wormian bones |
HP:0002650 | Scoliosis |
HP:0002652 | Skeletal dysplasia |
HP:0002673 | Coxa valga |
HP:0002715 | Abnormality of the immune system |
HP:0002750 | Delayed skeletal maturation |
HP:0002751 | Kyphoscoliosis |
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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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024