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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 |
|---|---|---|---|---|---|
| C0206663 | Neuroectodermal Tumor, Primitive | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0206663 | Neuroectodermal Tumor, Primitive | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0206663 | Neuroectodermal Tumor, Primitive | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0206663 | Neuroectodermal Tumor, Primitive | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0206663 | Neuroectodermal Tumor, Primitive | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0206663 | Neuroectodermal Tumor, Primitive | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0206094 | Neuroectodermal Tumor, Melanotic | MELTF | 4241 | melanotransferrin | P08582 |
| C0524851 | Neurodegenerative Disorders | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0524851 | Neurodegenerative Disorders | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0524851 | Neurodegenerative Disorders | GALC | 2581 | galactosylceramidase | P54803 |
| C0524851 | Neurodegenerative Disorders | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0524851 | Neurodegenerative Disorders | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0524851 | Neurodegenerative Disorders | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0524851 | Neurodegenerative Disorders | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
| C0524851 | Neurodegenerative Disorders | GUSB | 2990 | glucuronidase beta | P08236 |
| C0524851 | Neurodegenerative Disorders | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0524851 | Neurodegenerative Disorders | ARSA | 410 | arylsulfatase A | P15289 |
| C0524851 | Neurodegenerative Disorders | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0524851 | Neurodegenerative Disorders | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0524851 | Neurodegenerative Disorders | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0524851 | Neurodegenerative Disorders | OGA | 10724 | O-GlcNAcase | O60502 |
| C0524851 | Neurodegenerative Disorders | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0524851 | Neurodegenerative Disorders | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0524851 | Neurodegenerative Disorders | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0524851 | Neurodegenerative Disorders | HPSE | 10855 | heparanase | Q9Y251 |
