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:0000601 | Hypotelorism |
HP:0000618 | Blindness |
HP:0000639 | Nystagmus |
HP:0000648 | Optic atrophy |
HP:0000707 | Abnormality of the nervous system |
HP:0000763 | Sensory neuropathy |
HP:0000791 | Uric acid nephrolithiasis |
HP:0000873 | Diabetes insipidus |
HP:0001116 | Macular coloboma |
HP:0001249 | Intellectual disability |
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