UniProt ID | Protein Name | Source |
---|---|---|
O75503 | Bis(monoacylglycero)phosphate synthase CLN5 | |
P07602 | Prosaposin | |
P09382 | Galectin-1 | |
P09874 | Poly [ADP-ribose] polymerase 1 | |
P50897 | Palmitoyl-protein thioesterase 1 | |
P53396 | ATP-citrate synthase | |
P98161 | Polycystin-1 | |
Q96EG1 | Arylsulfatase G | |
Q9UMR5 | Lysosomal thioesterase PPT2 |
HPO ID | HPO Term |
---|---|
HP:0001272 | Cerebellar atrophy |
HP:0001288 | Gait disturbance |
HP:0001336 | Myoclonus |
HP:0002059 | Cerebral atrophy |
HP:0002069 | Bilateral tonic-clonic seizure |
HP:0002123 | Generalized myoclonic seizure |
HP:0002167 | Abnormality of speech or vocalization |
HP:0002333 | Motor deterioration |
HP:0002360 | Sleep abnormality |
HP:0002371 | Loss of speech |
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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