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:8927 | learning disability | |
DOID:9220 | central sleep apnea | |
DOID:9256 | colorectal cancer | |
DOID:93 | language disorder | |
DOID:9409 | diabetes insipidus | |
DOID:9521 | Laron syndrome | |
DOID:9649 | congenital nystagmus | |
DOID:9650 | pathologic nystagmus | |
DOID:9923 | developmental coordination disorder | |
DOID:9952 | acute lymphoblastic leukemia |
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 |
---|---|---|---|
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