Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
5837 | PYGM | glycogen phosphorylase, muscle associated | |
6383 | SDC2 | syndecan 2 | |
6476 | SI | sucrase-isomaltase | |
6484 | ST3GAL4 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | |
6519 | SLC3A1 | solute carrier family 3 member 1 | |
8813 | DPM1 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | |
8818 | DPM2 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | |
8867 | SYNJ1 | synaptojanin 1 | |
8871 | SYNJ2 | synaptojanin 2 |
Gene ID | Gene Symbol | Description | Source | Organism |
---|---|---|---|---|
414570 | pomgnt1.L | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) L homeolog | Xenopus laevis (African clawed frog) | |
495292 | pomgnt1.S | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) S homeolog | Xenopus laevis (African clawed frog) | |
100158594 | pomgnt1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Xenopus tropicalis (tropical clawed frog) |
UniProt ID | Protein Name | Source |
---|---|---|
Q9P2X0 | Dolichol-phosphate mannosyltransferase subunit 3 | |
Q9UKY4 | Protein O-mannosyl-transferase 2 | |
Q9Y259 | Choline/ethanolamine kinase | |
Q9Y2B1 | Ribitol-5-phosphate xylosyltransferase 1 | |
Q9Y5P6 | Mannose-1-phosphate guanyltransferase beta | |
Q9Y6A1 | Protein O-mannosyl-transferase 1 |
HPO ID | HPO Term |
---|---|
HP:0003560 | Muscular dystrophy |
HP:0100297 | Increased endomysial connective tissue |
HP:0003307 | Hyperlordosis |
HP:0003712 | Skeletal muscle hypertrophy |
HP:0001270 | Motor delay |
HP:0003676 | Progressive |
HP:0011003 | High myopia |
HP:0003551 | Difficulty climbing stairs |
HP:0000007 | Autosomal recessive inheritance |
HP:0003621 | Juvenile onset |
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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