UniProt ID | Protein Name | Source |
---|---|---|
Q06210 | Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 |
HPO ID | HPO Term |
---|---|
HP:0005659 | Thoracic kyphoscoliosis |
HP:0002194 | Delayed gross motor development |
HP:0002747 | Respiratory insufficiency due to muscle weakness |
HP:0011968 | Feeding difficulties |
HP:0000689 | Dental malocclusion |
HP:0000303 | Mandibular prognathia |
HP:0003680 | Nonprogressive |
HP:0001290 | Generalized hypotonia |
HP:0003199 | Decreased muscle mass |
HP:0003554 | Type 2 muscle fiber atrophy |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024