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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 |
|---|---|---|---|---|---|
| C3179455 | Niemann-Pick Disease, Type C1 | CD22 | 933 | CD22 molecule | P20273 |
| C3179455 | Niemann-Pick Disease, Type C1 | GPC1 | 2817 | glypican 1 | P35052 |
| C3179349 | Gastrointestinal Stromal Sarcoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C3179349 | Gastrointestinal Stromal Sarcoma | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C3179349 | Gastrointestinal Stromal Sarcoma | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C3179349 | Gastrointestinal Stromal Sarcoma | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C3179349 | Gastrointestinal Stromal Sarcoma | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C3179349 | Gastrointestinal Stromal Sarcoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3179349 | Gastrointestinal Stromal Sarcoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C3179349 | Gastrointestinal Stromal Sarcoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C3179349 | Gastrointestinal Stromal Sarcoma | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C3179194 | GALNS Deficiency | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C3179194 | GALNS Deficiency | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C3179194 | GALNS Deficiency | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C3178806 | Right Atrial Isomerism | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C3178805 | Heterotaxy Syndrome | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C3178805 | Heterotaxy Syndrome | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C3164344 | Adult onset autosomal dominant leukodystrophy | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C3163622 | Papillary Meningioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C3161650 | Primary immunoglobulin A nephropathy (disorder) | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C3161650 | Primary immunoglobulin A nephropathy (disorder) | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
| C3161174 | Hemoglobin H Disease | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C3160738 | FANCONI ANEMIA, COMPLEMENTATION GROUP D2 | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C3160738 | FANCONI ANEMIA, COMPLEMENTATION GROUP D2 | NTHL1 | 4913 | nth like DNA glycosylase 1 | P78549 |
| C3160718 | PARKINSON DISEASE, LATE-ONSET | ST3GAL2 | 6483 | ST3 beta-galactoside alpha-2,3-sialyltransferase 2 | Q16842 |
