Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
1120 | CHKB | choline kinase beta | |
1497 | CTNS | cystinosin, lysosomal cystine transporter | |
1605 | DAG1 | dystroglycan 1 | |
1634 | DCN | decorin | |
1636 | ACE | angiotensin I converting enzyme | |
1800 | DPEP1 | dipeptidase 1 | |
2023 | ENO1 | enolase 1 | |
2218 | FKTN | fukutin | |
2548 | GAA | alpha glucosidase | |
2710 | GK | glycerol kinase |
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