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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 |
|---|---|---|---|---|---|
| C0001815 | Primary Myelofibrosis | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0001815 | Primary Myelofibrosis | CEACAM6 | 4680 | CEA cell adhesion molecule 6 | P40199 |
| C0001815 | Primary Myelofibrosis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0001815 | Primary Myelofibrosis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0001815 | Primary Myelofibrosis | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0024620 | Primary Malignant Liver Neoplasm | ACOT12 | 134526 | acyl-CoA thioesterase 12 | Q8WYK0 |
| C0024620 | Primary Malignant Liver Neoplasm | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0024620 | Primary Malignant Liver Neoplasm | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0024620 | Primary Malignant Liver Neoplasm | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0024620 | Primary Malignant Liver Neoplasm | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0024620 | Primary Malignant Liver Neoplasm | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C3714618 | Primary Hyperthyroidism | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C3714618 | Primary Hyperthyroidism | CAT | 847 | catalase | P04040 |
| C0020501 | Primary Hyperoxaluria | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0020501 | Primary Hyperoxaluria | UGDH | 7358 | UDP-glucose 6-dehydrogenase | O60701 |
| C0020501 | Primary Hyperoxaluria | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| C0020501 | Primary Hyperoxaluria | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C0020501 | Primary Hyperoxaluria | HAO2 | 51179 | hydroxyacid oxidase 2 | Q9NYQ3 |
| C0020501 | Primary Hyperoxaluria | CRYL1 | 51084 | crystallin lambda 1 | Q9Y2S2 |
| C0020501 | Primary Hyperoxaluria | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C0020501 | Primary Hyperoxaluria | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0020501 | Primary Hyperoxaluria | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C0020501 | Primary Hyperoxaluria | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0014805 | Primary Erythermalgia | GLA | 2717 | galactosidase alpha | P06280 |
| C4551720 | Primary Ciliary Dyskinesia | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
