Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
2548 | GAA | alpha glucosidase | |
2581 | GALC | galactosylceramidase | |
2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
2717 | GLA | galactosidase alpha | |
2992 | GYG1 | glycogenin 1 | |
3423 | IDS | iduronate 2-sulfatase | |
3425 | IDUA | alpha-L-iduronidase | |
3482 | IGF2R | insulin like growth factor 2 receptor | |
3990 | LIPC | lipase C, hepatic type | |
4125 | MAN2B1 | mannosidase alpha class 2B member 1 |
UniProt ID | Protein Name | Source |
---|---|---|
Q04446 | 1,4-alpha-glucan-branching enzyme | |
Q96AD5 | Patatin-like phospholipase domain-containing protein 2 | |
Q96AT9 | Ribulose-phosphate 3-epimerase | |
Q9GZR5 | Very long chain fatty acid elongase 4 | |
Q9HAW7 | UDP-glucuronosyltransferase 1A7 | |
Q9HAW8 | UDP-glucuronosyltransferase 1A10 | |
Q9HAW9 | UDP-glucuronosyltransferase 1A8 | |
Q9NRA2 | Sialin |
HPO ID | HPO Term |
---|---|
HP:0002747 | Respiratory insufficiency due to muscle weakness |
HP:0001324 | Muscle weakness |
HP:0008947 | Infantile muscular hypotonia |
HP:0000365 | Hearing impairment |
HP:0003701 | Proximal muscle weakness |
HP:0012379 | Abnormal circulating enzyme concentration or activity |
HP:0001712 | Left ventricular hypertrophy |
HP:0000183 | Difficulty in tongue movements |
HP:0002098 | Respiratory distress |
HP:0005165 | Shortened PR interval |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024