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:0080199 | colorectal carcinoma | |
DOID:0090003 | agenesis of the corpus callosum with peripheral neuropathy | |
DOID:0110148 | Charcot-Marie-Tooth disease type 1A | |
DOID:0110149 | Charcot-Marie-Tooth disease type 1F | |
DOID:0110150 | Charcot-Marie-Tooth disease type 1D | |
DOID:0110151 | Charcot-Marie-Tooth disease type 1C | |
DOID:0110152 | Charcot-Marie-Tooth disease type 1B | |
DOID:0110153 | Charcot-Marie-Tooth disease type 1E | |
DOID:0110154 | Charcot-Marie-Tooth disease type 2A1 | |
DOID:0110155 | Charcot-Marie-Tooth disease type 2A2A |
HPO ID | HPO Term |
---|---|
HP:0008527 | Congenital sensorineural hearing impairment |
HP:0008936 | Axial hypotonia |
HP:0009830 | Peripheral neuropathy |
HP:0010536 | Central sleep apnea |
HP:0011185 | EEG with focal epileptiform discharges |
HP:0011220 | Prominent forehead |
HP:0011463 | Childhood onset |
HP:0011471 | Gastrostomy tube feeding in infancy |
HP:0011476 | Profound sensorineural hearing impairment |
HP:0011903 | HbH hemoglobin |
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 |
---|---|---|---|
107569609 | SINGR95577 | ||
107592351 | SINGR22018 | ||
106824331 | EQUAS31306 | ||
106839725 | EQUAS31306 | ||
115049718 | ECHNA28495 | ||
115401704 | SALFA02019 | ||
852211 | SGD:S000000164 | ||
856375 | SGD:S000001003 | ||
856836 | SGD:S000000901 | ||
109101815 | CYPCA84367 |
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