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 |
Gene ID | Gene Symbol | Description | Source | Organism |
---|---|---|---|---|
414570 | pomgnt1.L | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) L homeolog | Xenopus laevis (African clawed frog) | |
495292 | pomgnt1.S | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) S homeolog | Xenopus laevis (African clawed frog) | |
100158594 | pomgnt1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Xenopus tropicalis (tropical clawed frog) |
HPO ID | HPO Term |
---|---|
HP:0003560 | Muscular dystrophy |
HP:0100297 | Increased endomysial connective tissue |
HP:0003307 | Hyperlordosis |
HP:0003712 | Skeletal muscle hypertrophy |
HP:0001270 | Motor delay |
HP:0003676 | Progressive |
HP:0011003 | High myopia |
HP:0003551 | Difficulty climbing stairs |
HP:0000007 | Autosomal recessive inheritance |
HP:0003621 | Juvenile onset |
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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