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:0000202 | Orofacial cleft |
HP:0000238 | Hydrocephalus |
HP:0000252 | Microcephaly |
HP:0000256 | Macrocephaly |
HP:0000276 | Long face |
HP:0000286 | Epicanthus |
HP:0000368 | Low-set, posteriorly rotated ears |
HP:0000369 | Low-set ears |
HP:0000426 | Prominent nasal bridge |
HP:0000463 | Anteverted nares |
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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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024