Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
34 | ACADM | acyl-CoA dehydrogenase medium chain | |
411 | ARSB | arylsulfatase B | |
501 | ALDH7A1 | aldehyde dehydrogenase 7 family member A1 | |
1312 | COMT | catechol-O-methyltransferase | |
1376 | CPT2 | carnitine palmitoyltransferase 2 | |
1605 | DAG1 | dystroglycan 1 | |
1717 | DHCR7 | 7-dehydrocholesterol reductase | |
1718 | DHCR24 | 24-dehydrocholesterol reductase | |
2131 | EXT1 | exostosin glycosyltransferase 1 | |
2203 | FBP1 | fructose-bisphosphatase 1 |
HPO ID | HPO Term |
---|---|
HP:0001274 | Agenesis of corpus callosum |
HP:0000639 | Nystagmus |
HP:0002410 | Aqueductal stenosis |
HP:0000280 | Coarse facial features |
HP:0001360 | Holoprosencephaly |
HP:0004374 | Hemiplegia/hemiparesis |
HP:0001250 | Seizure |
HP:0000238 | Hydrocephalus |
HP:0001331 | Absent septum pellucidum |
HP:0002516 | Increased intracranial pressure |
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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