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:0001644 | Dilated cardiomyopathy |
HP:0008981 | Calf muscle hypertrophy |
HP:0002540 | Inability to walk |
HP:0100543 | Cognitive impairment |
HP:0003551 | Difficulty climbing stairs |
HP:0002194 | Delayed gross motor development |
HP:0006913 | Frontal cortical atrophy |
HP:0003560 | Muscular dystrophy |
HP:0011463 | Childhood onset |
HP:0001270 | Motor delay |
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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