Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
2720 | GLB1 | galactosidase beta 1 | |
3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
3418 | IDH2 | isocitrate dehydrogenase (NADP(+)) 2 | |
3612 | IMPA1 | inositol monophosphatase 1 | |
3633 | INPP5B | inositol polyphosphate-5-phosphatase B | |
3958 | LGALS3 | galectin 3 | |
4153 | MBL2 | mannose binding lectin 2 | |
5286 | PIK3C2A | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | |
5373 | PMM2 | phosphomannomutase 2 | |
5553 | PRG2 | proteoglycan 2, pro eosinophil major basic protein |
UniProt ID | Protein Name | Source |
---|---|---|
P12821 | Angiotensin-converting enzyme | |
P13727 | Bone marrow proteoglycan | |
P14410 | Sucrase-isomaltase, intestinal | |
P16070 | CD44 antigen | |
P16112 | Aggrecan core protein | |
P16278 | Beta-galactosidase | |
P16444 | Dipeptidase 1 | |
P17931 | Galectin-3 | |
P18054 | Polyunsaturated fatty acid lipoxygenase ALOX12 | |
P22303 | Acetylcholinesterase |
HPO ID | HPO Term |
---|---|
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0002027 | Abdominal pain |
HP:0003687 | Centrally nucleated skeletal muscle fibers |
HP:0001249 | Intellectual disability |
HP:0003391 | Gowers sign |
HP:0003803 | Type 1 muscle fiber predominance |
HP:0002515 | Waddling gait |
HP:0000729 | Autistic behavior |
HP:0003325 | Limb-girdle muscle weakness |
HP:0003701 | Proximal muscle weakness |
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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