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 |
GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity | ||
inositol trisphosphate phosphatase activity | ||
phosphatidylinositol trisphosphate phosphatase activity | ||
inositol bisphosphate phosphatase activity | ||
phosphatidylinositol phosphate 5-phosphatase activity |
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:0003306 | Spinal rigidity |
HP:0003307 | Hyperlordosis |
HP:0003391 | Gowers sign |
HP:0003510 | Severe short stature |
HP:0003552 | Muscle stiffness |
HP:0003560 | Muscular dystrophy |
HP:0003577 | Congenital onset |
HP:0003593 | Infantile onset |
HP:0003676 | Progressive |
HP:0003701 | Proximal muscle weakness |
Disease ID | Disease Name |
---|---|
OMIM:617404 |
|
ORPHA:559 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
101875341 | MELUD09472 | ||
100619651 | MONDO15625 | ||
102464080 | PELSI03516 | ||
103667174 | URSMA14083 | ||
113877320 | BOBOX15650 | ||
105857975 | MICMU10287 | ||
100945090 | OTOGA04234 | ||
101066042 | TAKRU03971 | ||
102020444 | CHILA18171 | ||
105714390 | AOTNA32100 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024