UniProt ID | Protein Name | Source |
---|---|---|
Q06210 | Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 |
HPO ID | HPO Term |
---|---|
HP:0009077 | Weakness of long finger extensor muscles |
HP:0002650 | Scoliosis |
HP:0000651 | Diplopia |
HP:0003443 | Decreased size of nerve terminals |
HP:0012515 | Hip flexor weakness |
HP:0002875 | Exertional dyspnea |
HP:0001315 | Reduced tendon reflexes |
HP:0003484 | Upper limb muscle weakness |
HP:0000508 | Ptosis |
HP:0003402 | Decreased miniature endplate potentials |
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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