Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
952 | CD38 | CD38 molecule | |
1120 | CHKB | choline kinase beta | |
2218 | FKTN | fukutin | |
4534 | MTM1 | myotubularin 1 | |
9200 | HACD1 | 3-hydroxyacyl-CoA dehydratase 1 | |
9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
10585 | POMT1 | protein O-mannosyltransferase 1 | |
11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 | |
55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
64419 | MTMR14 | myotubularin related protein 14 |
HPO ID | HPO Term |
---|---|
HP:0001824 | Weight loss |
HP:0002015 | Dysphagia |
HP:0002058 | Myopathic facies |
HP:0002086 | Abnormality of the respiratory system |
HP:0002205 | Recurrent respiratory infections |
HP:0002315 | Headache |
HP:0002360 | Sleep abnormality |
HP:0002421 | Poor head control |
HP:0002650 | Scoliosis |
HP:0002747 | Respiratory insufficiency due to 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