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:0110167 | Charcot-Marie-Tooth disease axonal type 2K | |
DOID:0110168 | Charcot-Marie-Tooth disease type 2Y | |
DOID:0110169 | Charcot-Marie-Tooth disease axonal type 2P | |
DOID:0110170 | Charcot-Marie-Tooth disease axonal type 2Q | |
DOID:0110173 | Charcot-Marie-Tooth disease axonal type 2U | |
DOID:0110174 | Charcot-Marie-Tooth disease axonal type 2L | |
DOID:0110175 | Charcot-Marie-Tooth disease axonal type 2O | |
DOID:0110177 | Charcot-Marie-Tooth disease axonal type 2N | |
DOID:0110179 | Charcot-Marie-Tooth disease type 2B2 | |
DOID:0110182 | Charcot-Marie-Tooth disease axonal type 2C |
HPO ID | HPO Term |
---|---|
HP:0001511 | Intrauterine growth retardation |
HP:0001518 | Small for gestational age |
HP:0001522 | Death in infancy |
HP:0001525 | Severe failure to thrive |
HP:0001761 | Pes cavus |
HP:0001919 | Acute kidney injury |
HP:0001997 | Gout |
HP:0001999 | Abnormal facial shape |
HP:0002015 | Dysphagia |
HP:0002069 | Bilateral tonic-clonic seizure |
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 |
---|---|---|---|
113568088 | ELEEL15560 | ||
113574179 | ELEEL15560 | ||
100195336 | SALSA31811 | ||
106567858 | SALSA31811 | ||
106604323 | SALSA124598 | ||
106612209 | SALSA124598 | ||
115148987 | SALTR104494 | ||
115154449 | SALTR104494 | ||
115167895 | SALTR44102 | ||
115205660 | SALTR110383 |
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