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:0110183 | Charcot-Marie-Tooth disease type 4C | |
DOID:0110184 | Charcot-Marie-Tooth disease type 4J | |
DOID:0110185 | Charcot-Marie-Tooth disease type 4A | |
DOID:0110186 | Charcot-Marie-Tooth disease type 4D | |
DOID:0110187 | Charcot-Marie-Tooth disease type 4K | |
DOID:0110190 | Charcot-Marie-Tooth disease type 4B2 | |
DOID:0110191 | Charcot-Marie-Tooth disease type 4B1 | |
DOID:0110192 | Charcot-Marie-Tooth disease type 4H | |
DOID:0110193 | Charcot-Marie-Tooth disease type 4F | |
DOID:0110194 | Charcot-Marie-Tooth disease type 4B3 |
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 |
---|---|---|---|
105589544 | CERAT41487 | ||
101867414 | MACFA44894 | ||
702529 | MACMU48127 | ||
101127155 | GORGO44491 | ||
100979842 | PANPA41881 | ||
100996146 | PANPA41881 | ||
465800 | PANTR46546 | ||
472640 | PANTR46546 | ||
100171465 | PONAB37863 | ||
100432259 | PONAB37863 |
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