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:0110183 | Charcot-Marie-Tooth disease type 4C | |
DOID:0110184 | Charcot-Marie-Tooth disease type 4J | |
DOID:0110185 | Charcot-Marie-Tooth disease type 4A | |
DOID:0110186 | Charcot-Marie-Tooth disease type 4D | |
DOID:0110187 | Charcot-Marie-Tooth disease type 4K | |
DOID:0110190 | Charcot-Marie-Tooth disease type 4B2 | |
DOID:0110191 | Charcot-Marie-Tooth disease type 4B1 | |
DOID:0110192 | Charcot-Marie-Tooth disease type 4H | |
DOID:0110193 | Charcot-Marie-Tooth disease type 4F | |
DOID:0110194 | Charcot-Marie-Tooth disease type 4B3 |
HPO ID | HPO Term |
---|---|
HP:0001285 | Spastic tetraparesis |
HP:0001288 | Gait disturbance |
HP:0001319 | Neonatal hypotonia |
HP:0001324 | Muscle weakness |
HP:0001337 | Tremor |
HP:0001344 | Absent speech |
HP:0001347 | Hyperreflexia |
HP:0001369 | Arthritis |
HP:0001419 | X-linked recessive inheritance |
HP:0001510 | Growth delay |
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 |
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