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:0110273 | autosomal dominant limb-girdle muscular dystrophy | |
DOID:0110274 | autosomal recessive limb-girdle muscular dystrophy | |
DOID:0110275 | autosomal recessive limb-girdle muscular dystrophy type 2A | |
DOID:0110276 | autosomal recessive limb-girdle muscular dystrophy type 2B | |
DOID:0110277 | autosomal recessive limb-girdle muscular dystrophy type 2C | |
DOID:0110278 | autosomal recessive limb-girdle muscular dystrophy type 2D | |
DOID:0110279 | autosomal recessive limb-girdle muscular dystrophy type 2E | |
DOID:0110280 | autosomal recessive limb-girdle muscular dystrophy type 2F | |
DOID:0110281 | autosomal recessive limb-girdle muscular dystrophy type 2G | |
DOID:0110282 | autosomal recessive limb-girdle muscular dystrophy type 2H |
HPO ID | HPO Term |
---|---|
HP:0004279 | Short palm |
HP:0004322 | Short stature |
HP:0005743 | Avascular necrosis of the capital femoral epiphysis |
HP:0005916 | Abnormal metacarpal morphology |
HP:0007126 | Proximal amyotrophy |
HP:0009126 | Increased adipose tissue |
HP:0009830 | Peripheral neuropathy |
HP:0010508 | Metatarsus valgus |
HP:0010547 | Muscle flaccidity |
HP:0011463 | Childhood onset |
Disease ID | Disease Name |
---|---|
OMIM:617404 |
|
ORPHA:559 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
454410 | PANTR13179 | ||
100294645 | PONAB11525 | ||
480647 | CANLF19143 | ||
112933092 | VULVU29049 | ||
123777088 | URSAM15043 | ||
100467068 | AILME13999 | ||
101683037 | MUSPF15651 | ||
101085842 | FELCA31778 | ||
118886220 | BALMU11242 | ||
100663160 | LOXAF07794 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024