UniProt ID | Protein Name | Source |
---|---|---|
O00330 | Pyruvate dehydrogenase protein X component, mitochondrial |
HPO ID | HPO Term |
---|---|
HP:0001520 | Large for gestational age |
HP:0001738 | Exocrine pancreatic insufficiency |
HP:0001952 | Glucose intolerance |
HP:0001953 | Diabetic ketoacidosis |
HP:0001998 | Neonatal hypoglycemia |
HP:0002594 | Pancreatic hypoplasia |
HP:0003074 | Hyperglycemia |
HP:0003076 | Glycosuria |
HP:0004924 | Abnormal oral glucose tolerance |
HP:0008255 | Transient neonatal diabetes mellitus |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024