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:0014667 | disease of metabolism | |
DOID:0050539 | Charcot-Marie-Tooth disease type 2 | |
DOID:0050542 | Charcot-Marie-Tooth disease type X | |
DOID:0050566 | X-linked nonsyndromic deafness | |
DOID:0050647 | Arts syndrome | |
DOID:0060249 | scoliosis | |
DOID:0060600 | obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum | |
DOID:0060843 | hereditary neuropathy with liability to pressure palsies | |
DOID:0070161 | hereditary sensory and autonomic neuropathy type 2 | |
DOID:0080144 | childhood acute lymphocytic leukemia |
HPO ID | HPO Term |
---|---|
HP:0001250 | Seizure |
HP:0001251 | Ataxia |
HP:0001252 | Hypotonia |
HP:0001256 | Intellectual disability, mild |
HP:0001260 | Dysarthria |
HP:0001262 | Excessive daytime somnolence |
HP:0001263 | Global developmental delay |
HP:0001270 | Motor delay |
HP:0001271 | Polyneuropathy |
HP:0001284 | Areflexia |
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 |
---|---|---|---|
481011 | CANLF20037 | ||
112932027 | VULVU27702 | ||
100465510 | AILME09389 | ||
101674476 | MUSPF06267 | ||
101086044 | FELCA38674 | ||
123378925 | FELCA38674 | ||
101322320 | TURTR03994 | ||
118888926 | BALMU19547 | ||
100054730 | HORSE44480 | ||
100517744 | PIGXX37823 |
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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