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:0000505 | Visual impairment |
HP:0000508 | Ptosis |
HP:0000510 | Rod-cone dystrophy |
HP:0000529 | Progressive visual loss |
HP:0000540 | Hypermetropia |
HP:0000543 | Optic disc pallor |
HP:0000545 | Myopia |
HP:0000556 | Retinal dystrophy |
HP:0000572 | Visual loss |
HP:0000577 | Exotropia |
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