UniProt ID | Protein Name | Source |
---|---|---|
Q9BT22 | Chitobiosyldiphosphodolichol beta-mannosyltransferase | |
Q9P2R7 | Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial | |
Q9Y6A2 | Cholesterol 24-hydroxylase |
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