Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
3482 | IGF2R | insulin like growth factor 2 receptor | |
3635 | INPP5D | inositol polyphosphate-5-phosphatase D | |
3958 | LGALS3 | galectin 3 | |
4190 | MDH1 | malate dehydrogenase 1 | |
4594 | MMUT | methylmalonyl-CoA mutase | |
4684 | NCAM1 | neural cell adhesion molecule 1 | |
4967 | OGDH | oxoglutarate dehydrogenase | |
5223 | PGAM1 | phosphoglycerate mutase 1 | |
5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta |
HPO ID | HPO Term |
---|---|
HP:0002067 | Bradykinesia |
HP:0002072 | Chorea |
HP:0002073 | Progressive cerebellar ataxia |
HP:0002283 | Global brain atrophy |
HP:0002312 | Clumsiness |
HP:0002401 | Stroke-like episode |
HP:0002446 | Astrocytosis |
HP:0002464 | Spastic dysarthria |
HP:0002529 | Neuronal loss in central nervous system |
HP:0002922 | Increased CSF protein concentration |
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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