UniProt | Protein Name |
---|---|
Q9NRR6 |
|
GO Term | Evidence Code | PMID |
---|---|---|
biological_process | ||
negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | ||
phosphatidylinositol-3-phosphate biosynthetic process | ||
phosphatidylinositol biosynthetic process |
|
|
negative regulation of translation |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0070115 | Meckel syndrome 1 | |
DOID:0080212 | polycystic kidney disease 4 | |
DOID:0090053 | episodic kinesigenic dyskinesia 1 | |
DOID:0110123 | Bardet-Biedl syndrome 1 | |
DOID:0110124 | Bardet-Biedl syndrome 2 | |
DOID:0110125 | Bardet-Biedl syndrome 3 | |
DOID:0110126 | Bardet-Biedl syndrome 4 | |
DOID:0110127 | Bardet-Biedl syndrome 5 | |
DOID:0110128 | Bardet-Biedl syndrome 6 | |
DOID:0110129 | Bardet-Biedl syndrome 7 |
HPO ID | HPO Term |
---|---|
HP:0000588 | Optic disc coloboma |
HP:0000612 | Iris coloboma |
HP:0000613 | Photophobia |
HP:0000617 | Abnormality of ocular smooth pursuit |
HP:0000639 | Nystagmus |
HP:0000657 | Oculomotor apraxia |
HP:0000662 | Nyctalopia |
HP:0000718 | Aggressive behavior |
HP:0000742 | Self-mutilation |
HP:0000750 | Delayed speech and language development |
Disease ID | Disease Name |
---|---|
ORPHA:75858 |
|
ORPHA:475 |
|
OMIM:213300 |
|
ORPHA:220493 |
|
OMIM:610156 |
|
ORPHA:1454 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
39404 | FB:FBgn0036273 | ||
102357566 | LATCH19413 | ||
606579 | ZFIN:ZDB-GENE-050809-23 | DANRE36968 | |
108255662 | ICTPU17312 | ||
113572910 | ELEEL12580 | ||
106580015 | SALSA72883 | ||
106585421 | SALSA89541 | ||
115164728 | SALTR60491 | ||
115199907 | SALTR21802 | ||
115548478 | GADMO56978 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024