Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
56953 | NT5M | 5',3'-nucleotidase, mitochondrial | |
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:0001251 | Ataxia |
HP:0002353 | EEG abnormality |
HP:0000348 | High forehead |
HP:0001561 | Polyhydramnios |
HP:0000177 | Abnormal upper lip morphology |
HP:0002079 | Hypoplasia of the corpus callosum |
HP:0000960 | Sacral dimple |
HP:0004209 | Clinodactyly of the 5th finger |
HP:0001510 | Growth delay |
HP:0000112 | Nephropathy |
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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