UniProt | Protein Name |
---|---|
Q92535 |
|
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum membrane | ||
glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex |
GO Term | Evidence Code | PMID |
---|---|---|
catalytic activity |
|
|
protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:2481 | obsolete infantile epileptic encephalopathy | |
DOID:2848 | obsolete melancholia | |
DOID:3327 | partial motor epilepsy | |
DOID:4090 | agnosia | |
DOID:4964 | neurotic disorder | |
DOID:543 | dystonia | |
DOID:8927 | learning disability | |
DOID:9854 | lingual-facial-buccal dyskinesia | |
DOID:9923 | developmental coordination disorder |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001263 | Global developmental delay |
HP:0002465 | Poor speech |
HP:0003155 | Elevated circulating alkaline phosphatase concentration |
HP:0003593 | Infantile onset |
Disease ID | Disease Name |
---|---|
OMIM:617816 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
177765 | WB:WBGene00011860 | ||
38410 | FB:FBgn0035435 | ||
323994 | ZFIN:ZDB-GENE-030131-2714 | DANRE18907 | |
103032632 | ASTMX20049 | ||
108257797 | ICTPU20239 | ||
113587364 | ELEEL39153 | ||
115192427 | SALTR30025 | ||
115555677 | GADMO06601 | ||
100705737 | ORENI45703 | ||
115590841 | SPAAU67904 |
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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