Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
246 | ALOX15 | arachidonate 15-lipoxygenase | |
414 | ARSD | arylsulfatase D | |
847 | CAT | catalase | |
1103 | CHAT | choline O-acetyltransferase | |
2026 | ENO2 | enolase 2 | |
2203 | FBP1 | fructose-bisphosphatase 1 | |
2348 | FOLR1 | folate receptor alpha | |
2350 | FOLR2 | folate receptor beta | |
3029 | HAGH | hydroxyacylglutathione hydrolase | |
3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 |
HPO ID | HPO Term |
---|---|
HP:0002300 | Mutism |
HP:0002353 | EEG abnormality |
HP:0002360 | Sleep abnormality |
HP:0002371 | Loss of speech |
HP:0002376 | Developmental regression |
HP:0002505 | Loss of ambulation |
HP:0002540 | Inability to walk |
HP:0002650 | Scoliosis |
HP:0002793 | Abnormal pattern of respiration |
HP:0002808 | Kyphosis |
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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