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:0110300 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1A | |
DOID:0110301 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1B | |
DOID:0110302 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1C | |
DOID:0110303 | autosomal dominant limb-girdle muscular dystrophy type 1H | |
DOID:0110304 | autosomal dominant limb-girdle muscular dystrophy type 2 | |
DOID:0110305 | autosomal dominant limb-girdle muscular dystrophy type 1 | |
DOID:0110306 | autosomal dominant limb-girdle muscular dystrophy type 3 | |
DOID:0110639 | congenital muscular dystrophy due to integrin alpha-7 deficiency | |
DOID:0111231 | congenital muscular dystrophy-dystroglycanopathy type A8 | |
DOID:0111234 | congenital muscular dystrophy-dystroglycanopathy A7 |
HPO ID | HPO Term |
---|---|
HP:0008981 | Calf muscle hypertrophy |
HP:0008994 | Proximal muscle weakness in lower limbs |
HP:0008997 | Proximal muscle weakness in upper limbs |
HP:0010508 | Metatarsus valgus |
HP:0011446 | Abnormality of mental function |
HP:0011463 | Childhood onset |
HP:0012400 | Abnormal circulating aldolase concentration |
HP:0012548 | Fatty replacement of skeletal muscle |
HP:0100022 | Abnormality of movement |
HP:0100543 | Cognitive impairment |
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