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 |
HPO ID | HPO Term |
---|---|
HP:0003326 | Myalgia |
HP:0002505 | Loss of ambulation |
HP:0008994 | Proximal muscle weakness in lower limbs |
HP:0000478 | Abnormality of the eye |
HP:0003707 | Calf muscle pseudohypertrophy |
HP:0011446 | Abnormality of mental function |
HP:0003202 | Skeletal muscle atrophy |
HP:0000158 | Macroglossia |
HP:0003325 | Limb-girdle muscle weakness |
HP:0008305 | Exercise-induced myoglobinuria |
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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