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:0110287 | autosomal recessive limb-girdle muscular dystrophy type 2S | |
DOID:0110289 | autosomal recessive limb-girdle muscular dystrophy type 2Y | |
DOID:0110292 | autosomal recessive limb-girdle muscular dystrophy type 2O | |
DOID:0110293 | autosomal recessive limb-girdle muscular dystrophy type 2P | |
DOID:0110294 | autosomal recessive limb-girdle muscular dystrophy type 2T | |
DOID:0110295 | autosomal recessive limb-girdle muscular dystrophy type 2U | |
DOID:0110296 | autosomal recessive limb-girdle muscular dystrophy type 2M | |
DOID:0110297 | autosomal recessive limb-girdle muscular dystrophy type 2K | |
DOID:0110298 | autosomal recessive limb-girdle muscular dystrophy type 2N | |
DOID:0110299 | autosomal recessive limb-girdle muscular dystrophy type 2I |
HPO ID | HPO Term |
---|---|
HP:0002350 | Cerebellar cyst |
HP:0002353 | EEG abnormality |
HP:0002355 | Difficulty walking |
HP:0002359 | Frequent falls |
HP:0002365 | Hypoplasia of the brainstem |
HP:0002435 | Meningocele |
HP:0002500 | Abnormal cerebral white matter morphology |
HP:0002505 | Loss of ambulation |
HP:0002536 | Abnormal cortical gyration |
HP:0002751 | Kyphoscoliosis |
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 |
---|---|---|---|
117012507 | RHIFE26792 | ||
114607101 | PODMU26666 | ||
105822436 | PROCO10857 | ||
103258165 | CARSF01841 |
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Last updated: August 19, 2024