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:0014667 | disease of metabolism | |
DOID:0050539 | Charcot-Marie-Tooth disease type 2 | |
DOID:0050542 | Charcot-Marie-Tooth disease type X | |
DOID:0050566 | X-linked nonsyndromic deafness | |
DOID:0050647 | Arts syndrome | |
DOID:0060249 | scoliosis | |
DOID:0060600 | obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum | |
DOID:0060843 | hereditary neuropathy with liability to pressure palsies | |
DOID:0070161 | hereditary sensory and autonomic neuropathy type 2 | |
DOID:0080144 | childhood acute lymphocytic leukemia |
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 |
---|---|---|---|
105589544 | CERAT41487 | ||
101867414 | MACFA44894 | ||
702529 | MACMU48127 | ||
101127155 | GORGO44491 | ||
100979842 | PANPA41881 | ||
100996146 | PANPA41881 | ||
465800 | PANTR46546 | ||
472640 | PANTR46546 | ||
100171465 | PONAB37863 | ||
100432259 | PONAB37863 |
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