Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
178 | AGL | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | |
353 | APRT | adenine phosphoribosyltransferase | |
411 | ARSB | arylsulfatase B | |
811 | CALR | calreticulin | |
1376 | CPT2 | carnitine palmitoyltransferase 2 | |
1636 | ACE | angiotensin I converting enzyme | |
2215 | FCGR3B | Fc gamma receptor IIIb | |
2523 | FUT1 | fucosyltransferase 1 (H blood group) | |
2538 | G6PC1 | glucose-6-phosphatase catalytic subunit 1 |
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
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Last updated: August 19, 2024