UniProt | Protein Name |
---|---|
A0A0S2A4E4 |
|
P35573 |
|
GO Term | Evidence Code | PMID |
---|---|---|
glycogen catabolic process | ||
response to glucocorticoid | ||
response to nutrient | ||
glycogen biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
4-alpha-glucanotransferase activity | ||
beta-maltose 4-alpha-glucanotransferase activity | ||
glycogen debranching enzyme activity | ||
protein binding | ||
amylo-alpha-1,6-glucosidase 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:0003693 | Distal amyotrophy |
HP:0004322 | Short stature |
HP:0005280 | Depressed nasal bridge |
HP:0011800 | Midface retrusion |
Disease ID | Disease Name |
---|---|
OMIM:232400 |
|
ORPHA:366 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
105485456 | MACNE30445 | ||
101009695 | PAPAN18577 | ||
105548513 | MANLE25909 | ||
101124513 | GORGO18639 | ||
100970156 | PANPA01891 | ||
469392 | PANTR21651 | ||
100462408 | PONAB18190 | ||
479931 | CANLF16878 | ||
112918465 | VULVU10607 | ||
123795170 | URSAM25337 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024