Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
4684 | NCAM1 | neural cell adhesion molecule 1 | |
4706 | NDUFAB1 | NADH:ubiquinone oxidoreductase subunit AB1 | |
5130 | PCYT1A | phosphate cytidylyltransferase 1A, choline | |
5236 | PGM1 | phosphoglucomutase 1 | |
5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
5973 | RENBP | renin binding protein | |
6389 | SDHA | succinate dehydrogenase complex flavoprotein subunit A |
UniProt ID | Protein Name | Source |
---|---|---|
Q13093 | Platelet-activating factor acetylhydrolase | |
Q14118 | Dystroglycan 1 | |
Q16836 | Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial | |
Q29983 | MHC class I polypeptide-related sequence A | |
Q6ZVN8 | Hemojuvelin | |
Q9H9S5 | Ribitol 5-phosphate transferase FKRP | |
Q9UKY4 | Protein O-mannosyl-transferase 2 | |
Q9Y259 | Choline/ethanolamine kinase |
HPO ID | HPO Term |
---|---|
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0003621 | Juvenile onset |
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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