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: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 |
---|---|---|---|
176016 | WB:WBGene00020107 | ||
39132 | FB:FBgn0036030 | ||
103177083 | CALMI01322 | ||
102365931 | LATCH09778 | ||
140620 | ZFIN:ZDB-GENE-011212-5 | DANRE35525 | |
560827 | ZFIN:ZDB-GENE-030131-4011 | DANRE06575 | |
103031347 | ASTMX10717 | ||
103045742 | ASTMX01151 | ||
108269253 | ICTPU33645 | ||
128629352 | ICTPU33645 |
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