Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
43 | ACHE | acetylcholinesterase (Yt blood group) | |
3423 | IDS | iduronate 2-sulfatase | |
4534 | MTM1 | myotubularin 1 | |
8776 | MTMR1 | myotubularin related protein 1 | |
8897 | MTMR3 | myotubularin related protein 3 | |
8898 | MTMR2 | myotubularin related protein 2 | |
9107 | MTMR6 | myotubularin related protein 6 | |
9108 | MTMR7 | myotubularin related protein 7 | |
9110 | MTMR4 | myotubularin related protein 4 | |
55613 | MTMR8 | myotubularin related protein 8 |
UniProt ID | Protein Name | Source |
---|---|---|
P22303 | Acetylcholinesterase | |
P22304 | Iduronate 2-sulfatase | |
Q13613 | Myotubularin-related protein 1 | |
Q13614 | Myotubularin-related protein 2 | |
Q8NCE2 | Myotubularin-related protein 14 |
HPO ID | HPO Term |
---|---|
HP:0001622 | Premature birth |
HP:0003755 | Type 1 fibers relatively smaller than type 2 fibers |
HP:0000478 | Abnormality of the eye |
HP:0002098 | Respiratory distress |
HP:0000268 | Dolichocephaly |
HP:0002540 | Inability to walk |
HP:0001558 | Decreased fetal movement |
HP:0006829 | Severe muscular hypotonia |
HP:0002033 | Poor suck |
HP:0000218 | High palate |
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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