Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
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 | |
79147 | FKRP | fukutin related protein |
Gene ID | Gene Symbol | Description | Source | Organism |
---|---|---|---|---|
100498555 | large1 | LARGE xylosyl- and glucuronyltransferase 1 | Xenopus tropicalis (tropical clawed frog) | |
108704366 | large1.L | LARGE xylosyl- and glucuronyltransferase 1 L homeolog | Xenopus laevis (African clawed frog) | |
108712551 | large1.S | LARGE xylosyl- and glucuronyltransferase 1 S homeolog | Xenopus laevis (African clawed frog) |
HPO ID | HPO Term |
---|---|
HP:0001290 | Generalized hypotonia |
HP:0003701 | Proximal muscle weakness |
HP:0000666 | Horizontal nystagmus |
HP:0003458 | EMG: myopathic abnormalities |
HP:0009473 | Joint contracture of the hand |
HP:0001771 | Achilles tendon contracture |
HP:0000158 | Macroglossia |
HP:0002269 | Abnormality of neuronal migration |
HP:0003560 | Muscular dystrophy |
HP:0004322 | Short stature |
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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