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:0002500 | Abnormal cerebral white matter morphology |
HP:0002505 | Loss of ambulation |
HP:0002876 | Episodic tachypnea |
HP:0003739 | Myoclonic spasms |
HP:0005324 | Disturbance of facial expression |
HP:0007010 | Poor fine motor coordination |
HP:0007064 | Progressive language deterioration |
HP:0007183 | Focal T2 hyperintense basal ganglia lesion |
HP:0007256 | Abnormal pyramidal sign |
HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
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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