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:0080199 | colorectal carcinoma | |
DOID:0090003 | agenesis of the corpus callosum with peripheral neuropathy | |
DOID:0110148 | Charcot-Marie-Tooth disease type 1A | |
DOID:0110149 | Charcot-Marie-Tooth disease type 1F | |
DOID:0110150 | Charcot-Marie-Tooth disease type 1D | |
DOID:0110151 | Charcot-Marie-Tooth disease type 1C | |
DOID:0110152 | Charcot-Marie-Tooth disease type 1B | |
DOID:0110153 | Charcot-Marie-Tooth disease type 1E | |
DOID:0110154 | Charcot-Marie-Tooth disease type 2A1 | |
DOID:0110155 | Charcot-Marie-Tooth disease type 2A2A |
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 |
---|---|---|---|
102024983 | CHILA19371 | ||
110194736 | PHACI05178 | ||
101963035 | ICTTR04080 | ||
101612473 | JACJA12112 | ||
101617220 | JACJA10591 | ||
118319444 | SCOMX05827 | ||
101818242 | FICAL06993 | ||
100582020 | NOMLE38620 | ||
100605807 | NOMLE38620 | ||
107565138 | SINGR89920 |
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