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 |
---|---|---|---|
101952262 | CHRPI09981 | ||
109307101 | CROPO13308 | ||
113438170 | PSETE09424 | ||
103823385 | SERCA20465 | ||
100084658 | ORNAN07736 | ||
100925264 | SARHA06250 | ||
100405942 | CALJA16607 | ||
105597548 | CERAT36206 | ||
102138416 | MACFA19780 | ||
705657 | MACMU24892 |
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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