Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
8972 | MGAM | maltase-glucoamylase | |
9104 | RGN | regucalcin | |
9200 | HACD1 | 3-hydroxyacyl-CoA dehydratase 1 | |
9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
10020 | GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | |
10329 | RXYLT1 | ribitol xylosyltransferase 1 | |
10585 | POMT1 | protein O-mannosyltransferase 1 | |
11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 | |
22933 | SIRT2 | sirtuin 2 | |
26033 | ATRNL1 | attractin like 1 |
HPO ID | HPO Term |
---|---|
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0011712 | Right bundle branch block |
HP:0002119 | Ventriculomegaly |
HP:0006785 | Limb-girdle muscular dystrophy |
HP:0001328 | Specific learning disability |
HP:0003691 | Scapular winging |
HP:0007126 | Proximal amyotrophy |
HP:0002355 | Difficulty walking |
HP:0001263 | Global developmental delay |
HP:0003697 | Scapuloperoneal amyotrophy |
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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