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:0000467 | Neck muscle weakness |
HP:0002910 | Elevated circulating hepatic transaminase concentration |
HP:0001270 | Motor delay |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024