UniProt | Protein Name |
---|---|
P98160 |
|
GO Term | Evidence Code | PMID |
---|---|---|
response to hypoxia | ||
circulatory system development |
|
|
lipid metabolic process |
|
|
embryo implantation | ||
inflammatory response |
|
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: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 |
---|---|---|---|
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