Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
1636 | ACE | angiotensin I converting enzyme | |
1718 | DHCR24 | 24-dehydrocholesterol reductase | |
2023 | ENO1 | enolase 1 | |
2026 | ENO2 | enolase 2 | |
2220 | FCN2 | ficolin 2 | |
2539 | G6PD | glucose-6-phosphate dehydrogenase | |
2581 | GALC | galactosylceramidase | |
2821 | GPI | glucose-6-phosphate isomerase | |
3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 | |
3425 | IDUA | alpha-L-iduronidase |
HPO ID | HPO Term |
---|---|
HP:0003487 | Babinski sign |
HP:0005327 | Loss of facial expression |
HP:0006943 | Diffuse spongiform leukoencephalopathy |
HP:0007009 | Central nervous system degeneration |
HP:0007017 | Progressive forgetfulness |
HP:0007158 | Progressive extrapyramidal muscular rigidity |
HP:0007183 | Focal T2 hyperintense basal ganglia lesion |
HP:0007256 | Abnormal pyramidal sign |
HP:0007686 | Abnormal pupillary function |
HP:0010542 | Vestibular nystagmus |
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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