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 |
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:0001626 | Abnormality of the cardiovascular system |
HP:0008997 | Proximal muscle weakness in upper limbs |
HP:0002792 | Reduced vital capacity |
HP:0003691 | Scapular winging |
HP:0006785 | Limb-girdle muscular dystrophy |
HP:0008981 | Calf muscle hypertrophy |
HP:0003677 | Slowly progressive |
HP:0000007 | Autosomal recessive inheritance |
HP:0007340 | Lower limb muscle weakness |
HP:0003236 | Elevated circulating creatine kinase concentration |
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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