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:0001181 | Adducted thumb |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
HP:0001265 | Hyporeflexia |
HP:0001270 | Motor delay |
HP:0001272 | Cerebellar atrophy |
HP:0001274 | Agenesis of corpus callosum |
HP:0001276 | Hypertonia |
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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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024