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:26 | pancreas disease | |
DOID:10003 | sensorineural hearing loss | |
DOID:10554 | meningoencephalitis | |
DOID:10584 | retinitis pigmentosa | |
DOID:1059 | intellectual disability | |
DOID:10595 | Charcot-Marie-Tooth disease | |
DOID:1074 | kidney failure | |
DOID:1142 | alternating exotropia | |
DOID:1143 | exotropia | |
DOID:11771 | spontaneous ocular nystagmus |
HPO ID | HPO Term |
---|---|
HP:0003537 | Hypouricemia |
HP:0003577 | Congenital onset |
HP:0003693 | Distal amyotrophy |
HP:0003712 | Skeletal muscle hypertrophy |
HP:0003819 | Death in childhood |
HP:0003828 | Variable expressivity |
HP:0004322 | Short stature |
HP:0004639 | Elevated amniotic fluid alpha-fetoprotein |
HP:0004887 | Respiratory failure requiring assisted ventilation |
HP:0005280 | Depressed nasal bridge |
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