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:0006579 | Prolonged neonatal jaundice |
HP:0006801 | Hyperactive deep tendon reflexes |
HP:0007178 | Motor polyneuropathy |
HP:0007258 | Severe demyelination of the white matter |
HP:0007328 | Impaired pain sensation |
HP:0007377 | Abnormality of somatosensory evoked potentials |
HP:0007965 | Undetectable visual evoked potentials |
HP:0008058 | Aplasia/Hypoplasia of the optic nerve |
HP:0008070 | Sparse hair |
HP:0008311 | Spinal cord posterior columns myelin loss |
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 |
---|---|---|---|
113568088 | ELEEL15560 | ||
113574179 | ELEEL15560 | ||
100195336 | SALSA31811 | ||
106567858 | SALSA31811 | ||
106604323 | SALSA124598 | ||
106612209 | SALSA124598 | ||
115148987 | SALTR104494 | ||
115154449 | SALTR104494 | ||
115167895 | SALTR44102 | ||
115205660 | SALTR110383 |
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