Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
84197 | POMK | protein O-mannose kinase | |
84892 | POMGNT2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | |
135228 | CD109 | CD109 molecule | |
148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | |
729920 | CRPPA | CDP-L-ribitol pyrophosphorylase A |
HPO ID | HPO Term |
---|---|
HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
HP:0100022 | Abnormality of movement |
HP:0100543 | Cognitive impairment |
HP:0000248 | Brachycephaly |
HP:0000268 | Dolichocephaly |
HP:0000298 | Mask-like facies |
HP:0000750 | Delayed speech and language development |
HP:0000767 | Pectus excavatum |
HP:0001263 | Global developmental delay |
HP:0001357 | Plagiocephaly |
Gene ID | Gene Symbol | Description |
---|---|---|
10585 | POMT1 | protein O-mannosyltransferase 1 |
148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 |
2218 | FKTN | fukutin |
29925 | GMPPB | GDP-mannose pyrophosphorylase B |
29954 | POMT2 | protein O-mannosyltransferase 2 |
55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
729920 | CRPPA | CDP-L-ribitol pyrophosphorylase A |
79147 | FKRP | fukutin related protein |
9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 |
10329 | RXYLT1 | ribitol xylosyltransferase 1 |
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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