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:0003621 | Juvenile onset |
HP:0003623 | Neonatal onset |
HP:0003712 | Skeletal muscle hypertrophy |
HP:0004322 | Short stature |
HP:0007772 | Impaired smooth pursuit |
HP:0009890 | High anterior hairline |
HP:0011462 | Young adult onset |
HP:0011463 | Childhood onset |
HP:0011968 | Feeding difficulties |
HP:0012345 | Abnormal glycosylation |
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