UniProt ID | Protein Name | Source |
---|---|---|
O75503 | Bis(monoacylglycero)phosphate synthase CLN5 | |
P07602 | Prosaposin | |
P09382 | Galectin-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:0000975 | Hyperhidrosis |
HP:0001129 | Large central visual field defect |
HP:0001250 | Seizure |
HP:0001272 | Cerebellar atrophy |
HP:0001300 | Parkinsonism |
HP:0001348 | Brisk reflexes |
HP:0001627 | Abnormal heart morphology |
HP:0001649 | Tachycardia |
HP:0002015 | Dysphagia |
HP:0002059 | Cerebral atrophy |
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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