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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0020615 | Hypoglycemia | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0020615 | Hypoglycemia | PFKFB3 | 5209 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 | Q16875 |
| C0020615 | Hypoglycemia | PCK2 | 5106 | phosphoenolpyruvate carboxykinase 2, mitochondrial | Q16822 |
| C0020615 | Hypoglycemia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0020615 | Hypoglycemia | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0020615 | Hypoglycemia | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0020615 | Hypoglycemia | CYP2C8 | 1558 | cytochrome P450 family 2 subfamily C member 8 | P10632 |
| C0020615 | Hypoglycemia | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0020615 | Hypoglycemia | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C0020615 | Hypoglycemia | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0020615 | Hypoglycemia | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C0020615 | Hypoglycemia | HMGCL | 3155 | 3-hydroxy-3-methylglutaryl-CoA lyase | P35914 |
| C0020615 | Hypoglycemia | HMGCS2 | 3158 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 | P54868 |
| C0020615 | Hypoglycemia | ACADL | 33 | acyl-CoA dehydrogenase long chain | P28330 |
| C0020615 | Hypoglycemia | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C0020615 | Hypoglycemia | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0020615 | Hypoglycemia | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0020615 | Hypoglycemia | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0020615 | Hypoglycemia | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0020615 | Hypoglycemia | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0020615 | Hypoglycemia | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0020615 | Hypoglycemia | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C0020608 | Hypodontia | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0020608 | Hypodontia | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0020608 | Hypodontia | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
