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) |
HPO ID | HPO Term |
---|---|
HP:0007256 | Abnormal pyramidal sign |
HP:0007260 | Type II lissencephaly |
HP:0012110 | Hypoplasia of the pons |
HP:0012443 | Abnormal brain morphology |
HP:0012695 | Decreased thalamic volume |
HP:0001249 | Intellectual disability |
HP:0000007 | Autosomal recessive inheritance |
HP:0001270 | Motor delay |
HP:0003577 | Congenital onset |
Gene ID | Gene Symbol | Description |
---|---|---|
10585 | POMT1 | protein O-mannosyltransferase 1 |
29925 | GMPPB | GDP-mannose pyrophosphorylase B |
29954 | POMT2 | protein O-mannosyltransferase 2 |
55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
79147 | FKRP | fukutin related protein |
84197 | POMK | protein O-mannose kinase |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.1.0
Last updated: December 9, 2024