UniProt ID | Protein Name | Source |
---|---|---|
O43505 | Beta-1,4-glucuronyltransferase 1 |
HPO ID | HPO Term |
---|---|
HP:0000028 | Cryptorchidism |
HP:0000175 | Cleft palate |
HP:0000176 | Submucous cleft hard palate |
HP:0000193 | Bifid uvula |
HP:0000238 | Hydrocephalus |
HP:0000252 | Microcephaly |
HP:0000256 | Macrocephaly |
HP:0000358 | Posteriorly rotated ears |
HP:0000369 | Low-set ears |
HP:0000411 | Protruding ear |
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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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024