Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
2876 | GPX1 | glutathione peroxidase 1 | |
2878 | GPX3 | glutathione peroxidase 3 | |
3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 | |
3294 | HSD17B2 | hydroxysteroid 17-beta dehydrogenase 2 | |
3417 | IDH1 | isocitrate dehydrogenase (NADP(+)) 1 | |
3958 | LGALS3 | galectin 3 | |
4065 | LY75 | lymphocyte antigen 75 | |
4153 | MBL2 | mannose binding lectin 2 | |
4190 | MDH1 | malate dehydrogenase 1 |
HPO ID | HPO Term |
---|---|
HP:0000407 | Sensorineural hearing impairment |
HP:0000969 | Edema |
HP:0001635 | Congestive heart failure |
HP:0001644 | Dilated cardiomyopathy |
HP:0001727 | Thromboembolic stroke |
HP:0002875 | Exertional dyspnea |
HP:0003198 | Myopathy |
HP:0003457 | EMG abnormality |
HP:0011675 | Arrhythmia |
HP:0012378 | Fatigue |
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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