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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 |
|---|---|---|---|---|---|
| C1334657 | Mediastinal B-Cell Lymphoma, Unclassifiable, with Features Intermediate between Diffuse Large B-Cell Lymphoma and Classic Hodgkin Lymphoma | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C1334660 | Mediastinal Leiomyosarcoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1334665 | Mediastinal Lymphoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1334665 | Mediastinal Lymphoma | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C0025064 | Mediastinitis | ARSA | 410 | arylsulfatase A | P15289 |
| C0220710 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | ARSA | 410 | arylsulfatase A | P15289 |
| C0220710 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0220710 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | ACADM | 34 | acyl-CoA dehydrogenase medium chain | P11310 |
| C0220710 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0220710 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0220710 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | ACADS | 35 | acyl-CoA dehydrogenase short chain | P16219 |
| C0206693 | Medullary carcinoma | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0206693 | Medullary carcinoma | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0206693 | Medullary carcinoma | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0206693 | Medullary carcinoma | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0206693 | Medullary carcinoma | HK2 | 3099 | hexokinase 2 | P52789 |
| C0206693 | Medullary carcinoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0206693 | Medullary carcinoma | SHMT1 | 6470 | serine hydroxymethyltransferase 1 | P34896 |
| C0860580 | Medullary carcinoma of breast | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C0238462 | Medullary carcinoma of thyroid | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0238462 | Medullary carcinoma of thyroid | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0238462 | Medullary carcinoma of thyroid | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0238462 | Medullary carcinoma of thyroid | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0238462 | Medullary carcinoma of thyroid | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0238462 | Medullary carcinoma of thyroid | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
