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 |
---|---|---|---|
481011 | CANLF20037 | ||
112932027 | VULVU27702 | ||
100465510 | AILME09389 | ||
101674476 | MUSPF06267 | ||
101086044 | FELCA38674 | ||
123378925 | FELCA38674 | ||
101322320 | TURTR03994 | ||
118888926 | BALMU19547 | ||
100054730 | HORSE44480 | ||
100517744 | PIGXX37823 |
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