UniProt | Protein Name |
---|---|
Q9BWP8 |
|
GO Term | Evidence Code | PMID |
---|---|---|
complement activation, lectin pathway | ||
cell surface pattern recognition receptor signaling pathway |
|
|
developmental process | ||
proteolysis | ||
complement activation |
GO Term | Evidence Code | PMID |
---|---|---|
collagen trimer | ||
extracellular region |
|
|
external side of plasma membrane |
|
|
serine-type endopeptidase complex |
|
|
extracellular space |
GO Term | Evidence Code | PMID |
---|---|---|
calcium ion binding | ||
protein binding | ||
identical protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:1425 | pyoureter | |
DOID:2340 | craniosynostosis | |
DOID:2527 | nephrosis | |
DOID:2921 | glomerulonephritis | |
DOID:3156 | hypomelanosis of Ito | |
DOID:399 | tuberculosis | |
DOID:526 | human immunodeficiency virus infectious disease | |
DOID:539 | ophthalmoplegia | |
DOID:540 | strabismus | |
DOID:552 | pneumonia |
HPO ID | HPO Term |
---|---|
HP:0000506 | Telecanthus |
HP:0000508 | Ptosis |
HP:0000537 | Epicanthus inversus |
HP:0000581 | Blepharophimosis |
HP:0000593 | Abnormal anterior chamber morphology |
HP:0000925 | Abnormality of the vertebral column |
HP:0001249 | Intellectual disability |
HP:0001263 | Global developmental delay |
HP:0001363 | Craniosynostosis |
HP:0001382 | Joint hypermobility |
Disease ID | Disease Name |
---|---|
ORPHA:293843 |
|
OMIM:265050 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
7354375 | FB:FBgn0259230 | ||
103185971 | CALMI33560 | ||
102366728 | LATCH06079 | ||
492459 | ZFIN:ZDB-GENE-041114-11 | ||
103038988 | ASTMX07587 | ||
108269501 | ICTPU35326 | ||
106565612 | SALSA65669 | ||
106610695 | SALSA139128 | ||
115162546 | SALTR57675 | ||
115172839 | SALTR73681 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024