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:0110130 | Bardet-Biedl syndrome 8 | |
DOID:0110131 | Bardet-Biedl syndrome 9 | |
DOID:0110132 | Bardet-Biedl syndrome 10 | |
DOID:0110133 | Bardet-Biedl syndrome 11 | |
DOID:0110134 | Bardet-Biedl syndrome 12 | |
DOID:0110135 | Bardet-Biedl syndrome 13 | |
DOID:0110136 | Bardet-Biedl syndrome 14 | |
DOID:0110137 | Bardet-Biedl syndrome 15 | |
DOID:0110138 | Bardet-Biedl syndrome 16 | |
DOID:0110139 | Bardet-Biedl syndrome 17 |
HPO ID | HPO Term |
---|---|
HP:0000480 | Retinal coloboma |
HP:0000486 | Strabismus |
HP:0000505 | Visual impairment |
HP:0000508 | Ptosis |
HP:0000518 | Cataract |
HP:0000543 | Optic disc pallor |
HP:0000556 | Retinal dystrophy |
HP:0000567 | Chorioretinal coloboma |
HP:0000570 | Abnormal saccadic eye movements |
HP:0000572 | Visual loss |
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 |
---|---|---|---|
103675239 | URSMA30225 | ||
114048715 | VOMUR14805 | ||
113901817 | BOBOX20440 | ||
100945799 | OTOGA07747 | ||
101070553 | TAKRU29398 | ||
102006700 | CHILA21580 | ||
105712173 | AOTNA27126 | ||
110205343 | PHACI21137 | ||
101031749 | SAIBB34823 | ||
101602482 | JACJA05635 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024