Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
43 | ACHE | acetylcholinesterase (Yt blood group) | |
1116 | CHI3L1 | chitinase 3 like 1 | |
1203 | CLN5 | CLN5 intracellular trafficking protein | |
2629 | GBA1 | glucosylceramidase beta 1 | |
2752 | GLUL | glutamate-ammonia ligase | |
2992 | GYG1 | glycogenin 1 | |
2997 | GYS1 | glycogen synthase 1 | |
2998 | GYS2 | glycogen synthase 2 | |
5211 | PFKL | phosphofructokinase, liver type | |
5728 | PTEN | phosphatase and tensin homolog |
HPO ID | HPO Term |
---|---|
HP:0002121 | Generalized non-motor (absence) seizure |
HP:0100318 | Lafora bodies |
HP:0001268 | Mental deterioration |
HP:0002540 | Inability to walk |
HP:0001250 | Seizure |
HP:0002360 | Sleep abnormality |
HP:0007537 | Severe photosensitivity |
HP:0001336 | Myoclonus |
HP:0000716 | Depression |
HP:0002133 | Status epilepticus |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 19, 2024