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:0110140 | Bardet-Biedl syndrome 18 | |
DOID:0110141 | Bardet-Biedl syndrome 19 | |
DOID:0110213 | isolated cleft palate | |
DOID:0110594 | primary ciliary dyskinesia 1 | |
DOID:0110861 | autosomal recessive polycystic kidney disease | |
DOID:0110980 | Joubert syndrome 1 | |
DOID:10426 | Klippel-Feil syndrome | |
DOID:10487 | Hirschsprung's disease | |
DOID:1056 | oculocerebrorenal syndrome | |
DOID:1059 | intellectual disability |
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 |
---|---|---|---|
607443 | CANLF19266 | ||
112906951 | VULVU32419 | ||
123796350 | URSAM17330 | ||
100468432 | AILME07197 | ||
101677772 | MUSPF11443 | ||
101093901 | FELCA29855 | ||
122204727 | PANLE26132 | ||
100670120 | LOXAF00423 | ||
100068731 | HORSE23894 | ||
110258074 | PIGXX38804 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024