Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
56052 | ALG1 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | |
79147 | FKRP | fukutin related protein | |
84197 | POMK | protein O-mannose kinase | |
84892 | POMGNT2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | |
148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | |
729920 | CRPPA | CDP-L-ribitol pyrophosphorylase A |
HPO ID | HPO Term |
---|---|
HP:0001262 | Excessive daytime somnolence |
HP:0001319 | Neonatal hypotonia |
HP:0001344 | Absent speech |
HP:0002023 | Anal atresia |
HP:0002079 | Hypoplasia of the corpus callosum |
HP:0002085 | Occipital encephalocele |
HP:0002187 | Intellectual disability, profound |
HP:0002365 | Hypoplasia of the brainstem |
HP:0002438 | Cerebellar malformation |
HP:0002803 | Congenital contracture |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
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