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:0002460 | Distal muscle weakness |
HP:0002463 | Language impairment |
HP:0002509 | Limb hypertonia |
HP:0002522 | Areflexia of lower limbs |
HP:0002650 | Scoliosis |
HP:0002719 | Recurrent infections |
HP:0002721 | Immunodeficiency |
HP:0002788 | Recurrent upper respiratory tract infections |
HP:0002808 | Kyphosis |
HP:0002936 | Distal sensory impairment |
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 |
---|---|---|---|
176016 | WB:WBGene00020107 | ||
39132 | FB:FBgn0036030 | ||
103177083 | CALMI01322 | ||
102365931 | LATCH09778 | ||
140620 | ZFIN:ZDB-GENE-011212-5 | DANRE35525 | |
560827 | ZFIN:ZDB-GENE-030131-4011 | DANRE06575 | |
103031347 | ASTMX10717 | ||
103045742 | ASTMX01151 | ||
108269253 | ICTPU33645 | ||
128629352 | ICTPU33645 |
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