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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 |
|---|---|---|---|---|---|
| C0334583 | Pilocytic Astrocytoma | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0334583 | Pilocytic Astrocytoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0334583 | Pilocytic Astrocytoma | LGALS3 | 3958 | galectin 3 | P17931 |
| C0334583 | Pilocytic Astrocytoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0334583 | Pilocytic Astrocytoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0334583 | Pilocytic Astrocytoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0334583 | Pilocytic Astrocytoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0334583 | Pilocytic Astrocytoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0334583 | Pilocytic Astrocytoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0334583 | Pilocytic Astrocytoma | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C0334583 | Pilocytic Astrocytoma | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C1368275 | Pigmented Basal Cell Carcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0549567 | Pigmentation Disorders | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0549567 | Pigmentation Disorders | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C1271398 | Pigment dispersion syndrome (disorder) | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1271398 | Pigment dispersion syndrome (disorder) | CD38 | 952 | CD38 molecule | P28907 |
| C1271398 | Pigment dispersion syndrome (disorder) | GPNMB | 10457 | glycoprotein nmb | Q14956 |
| C1271398 | Pigment dispersion syndrome (disorder) | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C1271398 | Pigment dispersion syndrome (disorder) | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0031900 | Pierre Robin Syndrome | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0031900 | Pierre Robin Syndrome | COG1 | 9382 | component of oligomeric golgi complex 1 | Q8WTW3 |
| C0031900 | Pierre Robin Syndrome | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0080024 | Piebaldism | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0080024 | Piebaldism | CALR | 811 | calreticulin | P27797 |
| C0236642 | Pick Disease of the Brain | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
