UniProt | Protein Name |
---|---|
Q9NQ66 |
|
GO Term | Evidence Code | PMID |
---|---|---|
insulin-like growth factor receptor signaling pathway | ||
interleukin-15-mediated signaling pathway | ||
positive regulation of CD24 production | ||
fat cell differentiation | ||
memory |
GO Term | Evidence Code | PMID |
---|---|---|
enzyme binding | ||
phospholipase C activity |
|
|
phosphatidylinositol-4,5-bisphosphate binding | ||
calcium ion binding | ||
lamin binding |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000252 | Microcephaly |
HP:0000505 | Visual impairment |
HP:0000707 | Abnormality of the nervous system |
HP:0000826 | Precocious puberty |
HP:0001252 | Hypotonia |
HP:0001257 | Spasticity |
HP:0001273 | Abnormal corpus callosum morphology |
HP:0001276 | Hypertonia |
HP:0001336 | Myoclonus |
Disease ID | Disease Name |
---|---|
ORPHA:293181 |
|
OMIM:613722 |
|
ORPHA:3451 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102140615 | MACFA01196 | ||
718387 | MACMU00877 | ||
105481533 | MACNE22582 | ||
100998763 | PAPAN13023 | ||
105552818 | MANLE04157 | ||
101153613 | GORGO22413 | ||
100969660 | PANPA21845 | ||
469875 | PANTR24346 | ||
100434502 | PONAB20766 | ||
485773 | CANLF09304 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024