GO Term | Evidence Code | PMID |
---|---|---|
nervous system development | ||
purine nucleobase metabolic process | ||
ribonucleoside monophosphate biosynthetic process | ||
hypoxanthine biosynthetic process | ||
5-phosphoribose 1-diphosphate biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
ribose phosphate diphosphokinase complex | ||
cytosol |
|
|
cytoplasm |
GO Term | Evidence Code | PMID |
---|---|---|
kinase activity | ||
magnesium ion binding | ||
protein homodimerization activity | ||
ATP binding | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110195 | Charcot-Marie-Tooth disease type 4E | |
DOID:0110196 | Charcot-Marie-Tooth disease type 4G | |
DOID:0110197 | Charcot-Marie-Tooth disease dominant intermediate B | |
DOID:0110198 | Charcot-Marie-Tooth disease recessive intermediate C | |
DOID:0110199 | Charcot-Marie-Tooth disease dominant intermediate C | |
DOID:0110200 | Charcot-Marie-Tooth disease dominant intermediate D | |
DOID:0110202 | Charcot-Marie-Tooth disease dominant intermediate A | |
DOID:0110203 | Charcot-Marie-Tooth disease recessive intermediate D | |
DOID:0110204 | Charcot-Marie-Tooth disease recessive intermediate B | |
DOID:0110205 | Charcot-Marie-Tooth disease dominant intermediate E |
HPO ID | HPO Term |
---|---|
HP:0001511 | Intrauterine growth retardation |
HP:0001518 | Small for gestational age |
HP:0001522 | Death in infancy |
HP:0001525 | Severe failure to thrive |
HP:0001761 | Pes cavus |
HP:0001919 | Acute kidney injury |
HP:0001997 | Gout |
HP:0001999 | Abnormal facial shape |
HP:0002015 | Dysphagia |
HP:0002069 | Bilateral tonic-clonic seizure |
Disease ID | Disease Name |
---|---|
ORPHA:423479 |
|
OMIM:311070 |
|
ORPHA:411543 |
|
OMIM:301835 |
|
OMIM:304500 |
|
ORPHA:1187 |
|
ORPHA:411536 |
|
OMIM:300661 |
|
ORPHA:99014 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
115552517 | GADMO01075 | ||
101169709 | ORYLA01259 | ||
399237 | Xenbase:XB-GENE-1008574 | ||
394745 | Xenbase:XB-GENE-1008569 | ||
109306067 | CROPO18745 | ||
109310923 | CROPO18745 | ||
113446846 | PSETE19966 | ||
100083258 | ORNAN23088 | ||
100406823 | CALJA44847 | ||
105572401 | CERAT41487 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
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