UniProt | Protein Name |
---|---|
P46977 |
|
GO Term | Evidence Code | PMID |
---|---|---|
post-translational protein modification | ||
co-translational protein modification | ||
protein N-linked glycosylation via asparagine | ||
protein N-linked glycosylation |
DO ID | Disease Name | Source |
---|---|---|
DOID:0080572 | congenital disorder of glycosylation Iw |
HPO ID | HPO Term |
---|---|
HP:0000431 | Wide nasal bridge |
HP:0000486 | Strabismus |
HP:0000718 | Aggressive behavior |
HP:0000750 | Delayed speech and language development |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
HP:0001270 | Motor delay |
HP:0001272 | Cerebellar atrophy |
Disease ID | Disease Name |
---|---|
ORPHA:370921 |
|
OMIM:615596 |
|
OMIM:619714 |
|
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: February 17, 2025