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 |
UniProt ID | Protein Name | Source |
---|---|---|
Q9UKY4 | Protein O-mannosyl-transferase 2 | |
Q9Y2B1 | Ribitol-5-phosphate xylosyltransferase 1 | |
Q9Y5P6 | Mannose-1-phosphate guanyltransferase beta | |
Q9Y6A1 | Protein O-mannosyl-transferase 1 |
HPO ID | HPO Term |
---|---|
HP:0001339 | Lissencephaly |
HP:0001460 | Aplasia/Hypoplasia involving the skeletal musculature |
HP:0002119 | Ventriculomegaly |
HP:0002126 | Polymicrogyria |
HP:0002269 | Abnormality of neuronal migration |
HP:0002334 | Abnormal cerebellar vermis morphology |
HP:0002536 | Abnormal cortical gyration |
HP:0003202 | Skeletal muscle atrophy |
HP:0003560 | Muscular dystrophy |
HP:0007731 | Chorioretinal dysplasia |
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