UniProt | Protein Name |
---|---|
Q9BT40 |
|
GO Term | Evidence Code | PMID |
---|---|---|
negative regulation of protein kinase activity | ||
negative regulation of peptidyl-serine phosphorylation | ||
actin cytoskeleton organization |
|
|
regulation of glycogen biosynthetic process | ||
G protein-coupled receptor signaling pathway |
DO ID | Disease Name | Source |
---|---|---|
DOID:0110241 | cataract 41 | |
DOID:0110242 | cataract 13 with adult i phenotype | |
DOID:0110243 | cataract 46 juvenile-onset | |
DOID:0110245 | cataract 38 | |
DOID:0110246 | cataract 26 multiple types | |
DOID:0110248 | cataract 30 | |
DOID:0110249 | cataract 11 multiple types | |
DOID:0110250 | cataract 16 multiple types | |
DOID:0110251 | cataract 15 multiple types | |
DOID:0110252 | cataract 37 |
HPO ID | HPO Term |
---|---|
HP:0002167 | Abnormality of speech or vocalization |
HP:0002334 | Abnormal cerebellar vermis morphology |
HP:0002650 | Scoliosis |
HP:0002673 | Coxa valga |
HP:0002808 | Kyphosis |
HP:0002827 | Hip dislocation |
HP:0003198 | Myopathy |
HP:0003202 | Skeletal muscle atrophy |
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0003241 | External genital hypoplasia |
Disease ID | Disease Name |
---|---|
OMIM:617404 |
|
ORPHA:559 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
177970 | WB:WBGene00012016 | ||
183643 | WB:WBGene00086546 | ||
32629 | FB:FBgn0030761 | ||
36911 | FB:FBgn0034179 | ||
103180576 | CALMI20696 | ||
102349489 | LATCH05930 | ||
100037338 | ZFIN:ZDB-GENE-070410-101 | DANRE08998 | |
566188 | ZFIN:ZDB-GENE-100408-3 | ||
103044237 | ASTMX13729 | ||
108277943 | ICTPU09831 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024