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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 |
|---|---|---|---|---|---|
| C1333292 | Diffuse infiltrative lymphocytosis syndrome | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1333292 | Diffuse infiltrative lymphocytosis syndrome | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C1258104 | Diffuse Scleroderma | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C1258104 | Diffuse Scleroderma | CAT | 847 | catalase | P04040 |
| C1258104 | Diffuse Scleroderma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0079757 | Diffuse Mixed-Cell Lymphoma | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0079757 | Diffuse Mixed-Cell Lymphoma | SHMT1 | 6470 | serine hydroxymethyltransferase 1 | P34896 |
| C0079744 | Diffuse Large B-Cell Lymphoma | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0079744 | Diffuse Large B-Cell Lymphoma | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0079744 | Diffuse Large B-Cell Lymphoma | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0079744 | Diffuse Large B-Cell Lymphoma | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0079744 | Diffuse Large B-Cell Lymphoma | CDS1 | 1040 | CDP-diacylglycerol synthase 1 | Q92903 |
| C0079744 | Diffuse Large B-Cell Lymphoma | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0079744 | Diffuse Large B-Cell Lymphoma | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0079744 | Diffuse Large B-Cell Lymphoma | ENO2 | 2026 | enolase 2 | P09104 |
| C0079744 | Diffuse Large B-Cell Lymphoma | FBP1 | 2203 | fructose-bisphosphatase 1 | P09467 |
| C0079744 | Diffuse Large B-Cell Lymphoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0079744 | Diffuse Large B-Cell Lymphoma | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0079744 | Diffuse Large B-Cell Lymphoma | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0079744 | Diffuse Large B-Cell Lymphoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0079744 | Diffuse Large B-Cell Lymphoma | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0079744 | Diffuse Large B-Cell Lymphoma | SDC1 | 6382 | syndecan 1 | P18827 |
| C0079744 | Diffuse Large B-Cell Lymphoma | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C0079744 | Diffuse Large B-Cell Lymphoma | CALR | 811 | calreticulin | P27797 |
| C0079744 | Diffuse Large B-Cell Lymphoma | KL | 9365 | klotho | Q9UEF7 |
