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:4676 | uremia | |
DOID:5082 | liver cirrhosis | |
DOID:5672 | large intestine cancer | |
DOID:612 | primary immunodeficiency disease | |
DOID:811 | lipodystrophy | |
DOID:9256 | colorectal cancer | |
DOID:9266 | cystinuria | |
DOID:9521 | Laron syndrome | |
DOID:9870 | galactosemia | |
DOID:9884 | muscular dystrophy |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000219 | Thin upper lip vermilion |
HP:0000233 | Thin vermilion border |
HP:0000272 | Malar flattening |
HP:0000293 | Full cheeks |
HP:0000455 | Broad nasal tip |
HP:0000490 | Deeply set eye |
HP:0001256 | Intellectual disability, mild |
HP:0001324 | Muscle weakness |
HP:0001395 | Hepatic fibrosis |
Disease ID | Disease Name |
---|---|
OMIM:232400 |
|
ORPHA:366 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100565632 | ANOCA06015 | ||
103669338 | URSMA19258 | ||
114047443 | VOMUR24126 | ||
113889569 | BOBOX08683 | ||
102534130 | VICPA00485 | ||
100964110 | OTOGA16678 | ||
101071621 | TAKRU33237 | ||
102030231 | CHILA09669 | ||
108248238 | KRYMA25071 | ||
105721400 | AOTNA25061 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024