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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 |
|---|---|---|---|---|---|
| C0020459 | Hyperinsulinism | PFKFB1 | 5207 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 | P16118 |
| C0020459 | Hyperinsulinism | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0020459 | Hyperinsulinism | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0020459 | Hyperinsulinism | G6PC2 | 57818 | glucose-6-phosphatase catalytic subunit 2 | Q9NQR9 |
| C0020459 | Hyperinsulinism | UGDH | 7358 | UDP-glucose 6-dehydrogenase | O60701 |
| C0020459 | Hyperinsulinism | NEIL1 | 79661 | nei like DNA glycosylase 1 | Q96FI4 |
| C0020459 | Hyperinsulinism | CANX | 821 | calnexin | P27824 |
| C0020459 | Hyperinsulinism | KL | 9365 | klotho | Q9UEF7 |
| C0020459 | Hyperinsulinism | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| C0020459 | Hyperinsulinism | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0020459 | Hyperinsulinism | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0020459 | Hyperinsulinism | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C0020459 | Hyperinsulinism | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0020459 | Hyperinsulinism | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0020459 | Hyperinsulinism | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0020459 | Hyperinsulinism | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C0020459 | Hyperinsulinism | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0020459 | Hyperinsulinism | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0020459 | Hyperinsulinism | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C0020459 | Hyperinsulinism | LIPC | 3990 | lipase C, hepatic type | P11150 |
| C0020459 | Hyperinsulinism | LPL | 4023 | lipoprotein lipase | P06858 |
| C0020459 | Hyperinsulinism | MELTF | 4241 | melanotransferrin | P08582 |
| C0020459 | Hyperinsulinism | CRYL1 | 51084 | crystallin lambda 1 | Q9Y2S2 |
| C0020459 | Hyperinsulinism | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0020459 | Hyperinsulinism | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
