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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 |
|---|---|---|---|---|---|
| C0024454 | Maffucci Syndrome | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0024454 | Maffucci Syndrome | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0024449 | Mycetoma | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0024449 | Mycetoma | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0024449 | Mycetoma | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0024441 | Macular Holes | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0024441 | Macular Holes | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0024440 | Macular Edema, Cystoid | CAT | 847 | catalase | P04040 |
| C0024440 | Macular Edema, Cystoid | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0024439 | Macular corneal dystrophy | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C0024439 | Macular corneal dystrophy | CHST6 | 4166 | carbohydrate sulfotransferase 6 | Q9GZX3 |
| C0024437 | Macular degeneration | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0024437 | Macular degeneration | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0024437 | Macular degeneration | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C0024419 | Waldenstrom Macroglobulinemia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0024419 | Waldenstrom Macroglobulinemia | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0024419 | Waldenstrom Macroglobulinemia | NAMPT | 10135 | nicotinamide phosphoribosyltransferase | P43490 |
| C0024419 | Waldenstrom Macroglobulinemia | ANXA5 | 308 | annexin A5 | P08758 |
| C0024419 | Waldenstrom Macroglobulinemia | CLEC12A | 160364 | C-type lectin domain family 12 member A | Q5QGZ9 |
| C0024419 | Waldenstrom Macroglobulinemia | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0024419 | Waldenstrom Macroglobulinemia | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0024419 | Waldenstrom Macroglobulinemia | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
| C0024419 | Waldenstrom Macroglobulinemia | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0024419 | Waldenstrom Macroglobulinemia | HAS1 | 3036 | hyaluronan synthase 1 | Q92839 |
| C0024419 | Waldenstrom Macroglobulinemia | CD22 | 933 | CD22 molecule | P20273 |
