Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
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 | |
160418 | TMTC3 | transmembrane O-mannosyltransferase targeting cadherins 3 | |
729920 | CRPPA | CDP-L-ribitol pyrophosphorylase A |
HPO ID | HPO Term |
---|---|
HP:0000215 | Thick upper lip vermilion |
HP:0004305 | Involuntary movements |
HP:0000639 | Nystagmus |
HP:0012856 | Abnormal scrotal rugation |
HP:0001252 | Hypotonia |
HP:0000347 | Micrognathia |
HP:0002365 | Hypoplasia of the brainstem |
HP:0000028 | Cryptorchidism |
HP:0001257 | Spasticity |
HP:0000062 | Ambiguous genitalia |
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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