UniProt ID | Protein Name | Source |
---|---|---|
Q9Y2B1 | Ribitol-5-phosphate xylosyltransferase 1 |
HPO ID | HPO Term |
---|---|
HP:0003202 | Skeletal muscle atrophy |
HP:0003560 | Muscular dystrophy |
HP:0007731 | Chorioretinal dysplasia |
HP:0007957 | Corneal opacity |
HP:0007973 | Retinal dysplasia |
HP:0008736 | Hypoplasia of penis |
HP:0010508 | Metatarsus valgus |
HP:0012400 | Abnormal circulating aldolase concentration |
HP:0007033 | Cerebellar dysplasia |
HP:0000133 | Gonadal dysgenesis |
Gene ID | Gene Symbol | Description |
---|---|---|
10329 | RXYLT1 | ribitol xylosyltransferase 1 |
10585 | POMT1 | protein O-mannosyltransferase 1 |
11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 |
148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 |
1605 | DAG1 | dystroglycan 1 |
2218 | FKTN | fukutin |
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 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024