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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 |
|---|---|---|---|---|---|
| C0392514 | Hereditary hemochromatosis | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0392514 | Hereditary hemochromatosis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0392514 | Hereditary hemochromatosis | LGALS3 | 3958 | galectin 3 | P17931 |
| C0392514 | Hereditary hemochromatosis | STS | 412 | steroid sulfatase | P08842 |
| C0392514 | Hereditary hemochromatosis | ACO1 | 48 | aconitase 1 | P21399 |
| C0392514 | Hereditary hemochromatosis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0392514 | Hereditary hemochromatosis | SELE | 6401 | selectin E | P16581 |
| C0392514 | Hereditary hemochromatosis | SELL | 6402 | selectin L | P14151 |
| C0392514 | Hereditary hemochromatosis | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0392514 | Hereditary hemochromatosis | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C0392514 | Hereditary hemochromatosis | CD14 | 929 | CD14 molecule | P08571 |
| C0392514 | Hereditary hemochromatosis | GPC5 | 2262 | glypican 5 | P78333 |
| C0392514 | Hereditary hemochromatosis | GPC3 | 2719 | glypican 3 | P51654 |
| C0392514 | Hereditary hemochromatosis | GPC1 | 2817 | glypican 1 | P35052 |
| C0392514 | Hereditary hemochromatosis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0392514 | Hereditary hemochromatosis | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
| C0392514 | Hereditary hemochromatosis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0392514 | Hereditary hemochromatosis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0392514 | Hereditary hemochromatosis | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0392525 | Nephrolithiasis | ENO1 | 2023 | enolase 1 | P06733 |
| C0392525 | Nephrolithiasis | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0392525 | Nephrolithiasis | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0392525 | Nephrolithiasis | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0392525 | Nephrolithiasis | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0392525 | Nephrolithiasis | KL | 9365 | klotho | Q9UEF7 |
