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: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 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
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