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:0001285 | Spastic tetraparesis |
HP:0001288 | Gait disturbance |
HP:0001319 | Neonatal hypotonia |
HP:0001324 | Muscle weakness |
HP:0001337 | Tremor |
HP:0001344 | Absent speech |
HP:0001347 | Hyperreflexia |
HP:0001369 | Arthritis |
HP:0001419 | X-linked recessive inheritance |
HP:0001510 | Growth delay |
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 |
---|---|---|---|
101566211 | OCTDE20745 | ||
101588173 | OCTDE20745 | ||
100014432 | MONDO01100 | ||
102537339 | VICPA04964 | ||
102540095 | VICPA04964 | ||
105863545 | MICMU10985 | ||
105880179 | MICMU10985 | ||
105882441 | MICMU10985 | ||
101076743 | TAKRU09798 | ||
102019073 | CHILA19371 |
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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