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:0110183 | Charcot-Marie-Tooth disease type 4C | |
DOID:0110184 | Charcot-Marie-Tooth disease type 4J | |
DOID:0110185 | Charcot-Marie-Tooth disease type 4A | |
DOID:0110186 | Charcot-Marie-Tooth disease type 4D | |
DOID:0110187 | Charcot-Marie-Tooth disease type 4K | |
DOID:0110190 | Charcot-Marie-Tooth disease type 4B2 | |
DOID:0110191 | Charcot-Marie-Tooth disease type 4B1 | |
DOID:0110192 | Charcot-Marie-Tooth disease type 4H | |
DOID:0110193 | Charcot-Marie-Tooth disease type 4F | |
DOID:0110194 | Charcot-Marie-Tooth disease type 4B3 |
HPO ID | HPO Term |
---|---|
HP:0003149 | Hyperuricosuria |
HP:0003196 | Short nose |
HP:0003240 | Increased phosphoribosylpyrophosphate synthetase level |
HP:0003323 | Progressive muscle weakness |
HP:0003383 | Onion bulb formation |
HP:0003431 | Decreased motor nerve conduction velocity |
HP:0003444 | EMG: chronic denervation signs |
HP:0003477 | Peripheral axonal neuropathy |
HP:0003481 | Segmental peripheral demyelination/remyelination |
HP:0003487 | Babinski sign |
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