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:0110156 | Charcot-Marie-Tooth disease type 2B1 | |
DOID:0110157 | Charcot-Marie-Tooth disease type 2J | |
DOID:0110158 | Charcot-Marie-Tooth disease type 2I | |
DOID:0110159 | Charcot-Marie-Tooth disease type 2B | |
DOID:0110160 | Charcot-Marie-Tooth disease axonal type 2T | |
DOID:0110161 | Charcot-Marie-Tooth disease type 2R | |
DOID:0110163 | Charcot-Marie-Tooth disease axonal type 2F | |
DOID:0110164 | Charcot-Marie-Tooth disease type 2D | |
DOID:0110165 | Charcot-Marie-Tooth disease type 2E | |
DOID:0110166 | Charcot-Marie-Tooth disease axonal type 2H |
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 |
---|---|---|---|
115552517 | GADMO01075 | ||
101169709 | ORYLA01259 | ||
399237 | Xenbase:XB-GENE-1008574 | ||
394745 | Xenbase:XB-GENE-1008569 | ||
109306067 | CROPO18745 | ||
109310923 | CROPO18745 | ||
113446846 | PSETE19966 | ||
100083258 | ORNAN23088 | ||
100406823 | CALJA44847 | ||
105572401 | CERAT41487 |
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