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 |
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:0008527 | Congenital sensorineural hearing impairment |
HP:0008936 | Axial hypotonia |
HP:0009830 | Peripheral neuropathy |
HP:0010536 | Central sleep apnea |
HP:0011185 | EEG with focal epileptiform discharges |
HP:0011220 | Prominent forehead |
HP:0011463 | Childhood onset |
HP:0011471 | Gastrostomy tube feeding in infancy |
HP:0011476 | Profound sensorineural hearing impairment |
HP:0011903 | HbH hemoglobin |
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 |
---|---|---|---|
781227 | BOVIN36697 | ||
102173923 | CAPHI32016 | ||
101115347 | SHEEP20244 | ||
105991379 | DIPOR14153 | ||
105992816 | DIPOR14153 | ||
19139 | MGI:97775 | MOUSE65845 | |
328099 | MOUSE07952 | ||
29562 | RGD:61955 | RATNO35265 | |
314140 | RGD:1359636 | RATNO35265 | |
100725562 | CAVPO16703 |
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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