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:0004347 | Weakness of muscles of respiration |
HP:0004396 | Poor appetite |
HP:0004878 | Intercostal muscle weakness |
HP:0005216 | Impaired mastication |
HP:0006380 | Knee flexion contracture |
HP:0006466 | Ankle flexion contracture |
HP:0009004 | Hypoplasia of the musculature |
HP:0009027 | Foot dorsiflexor weakness |
HP:0011470 | Nasogastric tube feeding in infancy |
HP:0011807 | Type 1 muscle fiber atrophy |
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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