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:0001269 | Hemiparesis |
HP:0000505 | Visual impairment |
HP:0002381 | Aphasia |
HP:0001317 | Abnormal cerebellum morphology |
HP:0000006 | Autosomal dominant inheritance |
HP:0002354 | Memory impairment |
HP:0003678 | Rapidly progressive |
HP:0007076 | Extrapyramidal muscular rigidity |
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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