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:0110206 | Charcot-Marie-Tooth disease dominant intermediate F | |
DOID:0110207 | Charcot-Marie-Tooth disease X-linked dominant 6 | |
DOID:0110208 | Charcot-Marie-Tooth disease X-linked recessive 2 | |
DOID:0110209 | Charcot-Marie-Tooth disease X-linked dominant 1 | |
DOID:0110210 | Charcot-Marie-Tooth disease X-linked recessive 5 | |
DOID:0110211 | Charcot-Marie-Tooth disease X-linked recessive 3 | |
DOID:0110212 | Charcot-Marie-Tooth disease X-linked recessive 4 | |
DOID:0110734 | neurodegeneration with brain iron accumulation | |
DOID:0111260 | phosphoribosylpyrophosphate synthetase superactivity | |
DOID:0111739 | X-linked deafness 1 |
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 |
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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