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:0002104 | Apnea |
HP:0002126 | Polymicrogyria |
HP:0002195 | Dysgenesis of the cerebellar vermis |
HP:0002240 | Hepatomegaly |
HP:0002251 | Aganglionic megacolon |
HP:0002269 | Abnormality of neuronal migration |
HP:0002335 | Agenesis of cerebellar vermis |
HP:0002342 | Intellectual disability, moderate |
HP:0002365 | Hypoplasia of the brainstem |
HP:0002419 | Molar tooth sign on MRI |
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 |
---|---|---|---|
116817507 | CHEAB00605 | ||
105298576 | PTEVA08326 | ||
115048613 | ECHNA21490 | ||
115398351 | SALFA06432 | ||
113486499 | ATHCN17807 | ||
105818699 | PROCO27662 | ||
109078005 | CYPCA12490 | ||
103741211 | NANGA21143 | ||
116454341 | CORMO10662 | ||
115616951 | STRHB17768 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024