Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
84892 | POMGNT2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | |
120071 | LARGE2 | LARGE xylosyl- and glucuronyltransferase 2 | |
124872 | B4GALNT2 | beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) | |
148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | |
729920 | CRPPA | CDP-L-ribitol pyrophosphorylase A |
HPO ID | HPO Term |
---|---|
HP:0002359 | Frequent falls |
HP:0003701 | Proximal muscle weakness |
HP:0001265 | Hyporeflexia |
HP:0011727 | Peroneal muscle weakness |
HP:0003391 | Gowers sign |
HP:0000767 | Pectus excavatum |
HP:0003593 | Infantile onset |
HP:0001371 | Flexion contracture |
HP:0008981 | Calf muscle hypertrophy |
HP:0003307 | Hyperlordosis |
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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