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: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 |
---|---|---|---|
105580571 | CERAT35531 | ||
102140416 | MACFA10924 | ||
710121 | MACMU12924 | ||
105471932 | MACNE30138 | ||
101025577 | PAPAN07714 | ||
105543313 | MANLE16741 | ||
101150746 | GORGO41372 | ||
100973295 | PANPA40663 | ||
748603 | PANTR45270 | ||
100445730 | PONAB36088 |
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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