UniProt ID | Protein Name | Source |
---|---|---|
Q06210 | Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 |
HPO ID | HPO Term |
---|---|
HP:0003803 | Type 1 muscle fiber predominance |
HP:0002091 | Restrictive ventilatory defect |
HP:0010628 | Facial palsy |
HP:0002792 | Reduced vital capacity |
HP:0000961 | Cyanosis |
HP:0003458 | EMG: myopathic abnormalities |
HP:0000218 | High palate |
HP:0003202 | Skeletal muscle atrophy |
HP:0003722 | Neck flexor weakness |
HP:0001446 | Abnormality of the musculature of the upper limbs |
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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