UniProt | Protein Name |
---|---|
A0A140VJM1 |
|
A4D126 |
|
GO Term | Evidence Code | PMID |
---|---|---|
isoprenoid biosynthetic process | ||
axon guidance | ||
protein O-linked mannosylation |
GO Term | Evidence Code | PMID |
---|---|---|
D-ribitol-5-phosphate cytidylyltransferase activity | ||
protein homodimerization activity | ||
cytidylyltransferase activity |
DO ID | Disease Name | Source |
---|---|---|
DOID:0080092 | myofibrillar myopathy 1 | |
DOID:0080094 | myofibrillar myopathy 3 | |
DOID:0090130 | cortical dysplasia-focal epilepsy syndrome | |
DOID:0090132 | complex cortical dysplasia with other brain malformations 7 | |
DOID:0090137 | complex cortical dysplasia with other brain malformations 1 | |
DOID:0110096 | short-rib thoracic dysplasia 14 with polydactyly | |
DOID:0110273 | autosomal dominant limb-girdle muscular dystrophy | |
DOID:0110274 | autosomal recessive limb-girdle muscular dystrophy | |
DOID:0110275 | autosomal recessive limb-girdle muscular dystrophy type 2A | |
DOID:0110276 | autosomal recessive limb-girdle muscular dystrophy type 2B |
HPO ID | HPO Term |
---|---|
HP:0002792 | Reduced vital capacity |
HP:0003198 | Myopathy |
HP:0003202 | Skeletal muscle atrophy |
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0003324 | Generalized muscle weakness |
HP:0003325 | Limb-girdle muscle weakness |
HP:0003326 | Myalgia |
HP:0003394 | Muscle spasm |
HP:0003457 | EMG abnormality |
HP:0003458 | EMG: myopathic abnormalities |
Disease ID | Disease Name |
---|---|
ORPHA:370980 |
|
ORPHA:352479 |
|
OMIM:616052 |
|
ORPHA:899 |
|
OMIM:614643 |
|
ORPHA:588 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
104968457 | BOVIN27712 | ||
102187829 | CAPHI23970 | ||
100337768 | RABIT14426 | ||
75847 | MGI:1923097 | MOUSE08853 | |
493574 | RGD:1359368 | RATNO35992 | |
100946143 | OTOGA17955 | ||
105716156 | AOTNA04192 | ||
101028455 | SAIBB30447 | ||
101974291 | ICTTR09821 | ||
102417983 | MYOLU02671 |
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Last updated: August 19, 2024