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:0000347 | Micrognathia |
HP:0000358 | Posteriorly rotated ears |
HP:0000368 | Low-set, posteriorly rotated ears |
HP:0000369 | Low-set ears |
HP:0000396 | Overfolded helix |
HP:0000405 | Conductive hearing impairment |
HP:0000407 | Sensorineural hearing impairment |
HP:0000426 | Prominent nasal bridge |
HP:0000431 | Wide nasal bridge |
HP:0000457 | Depressed nasal ridge |
Disease ID | Disease Name |
---|---|
ORPHA:1606 |
|
ORPHA:800 |
|
ORPHA:1865 |
|
OMIM:255800 |
|
OMIM:224410 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100413695 | CALJA40259 | ||
105595111 | CERAT06438 | ||
102145976 | MACFA23284 | ||
707213 | MACMU21981 | ||
105494393 | MACNE01420 | ||
101006455 | PAPAN17536 | ||
101138254 | GORGO17797 | ||
100969025 | PANPA00536 | ||
100613114 | PANTR20189 | ||
129056643 | PONAB17017 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024