UniProt ID | Protein Name | Source |
---|---|---|
O75874 | Isocitrate dehydrogenase [NADP] cytoplasmic | |
P48735 | Isocitrate dehydrogenase [NADP], mitochondrial | |
Q16394 | Exostosin-1 | |
Q93063 | Exostosin-2 |
HPO ID | HPO Term |
---|---|
HP:0000853 | Goiter |
HP:0001482 | Subcutaneous nodule |
HP:0001510 | Growth delay |
HP:0002015 | Dysphagia |
HP:0002650 | Scoliosis |
HP:0002653 | Bone pain |
HP:0002757 | Recurrent fractures |
HP:0002797 | Osteolysis |
HP:0002893 | Pituitary adenoma |
HP:0002897 | Parathyroid adenoma |
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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