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: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 |
---|---|---|---|
781227 | BOVIN36697 | ||
102173923 | CAPHI32016 | ||
101115347 | SHEEP20244 | ||
105991379 | DIPOR14153 | ||
105992816 | DIPOR14153 | ||
19139 | MGI:97775 | MOUSE65845 | |
328099 | MOUSE07952 | ||
29562 | RGD:61955 | RATNO35265 | |
314140 | RGD:1359636 | RATNO35265 | |
100725562 | CAVPO16703 |
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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