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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 |
|---|---|---|---|---|---|
| C0524620 | Metabolic Syndrome X | OLR1 | 4973 | oxidized low density lipoprotein receptor 1 | P78380 |
| C0524620 | Metabolic Syndrome X | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0524620 | Metabolic Syndrome X | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0524620 | Metabolic Syndrome X | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0524620 | Metabolic Syndrome X | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0524620 | Metabolic Syndrome X | PLCB4 | 5332 | phospholipase C beta 4 | Q15147 |
| C0524620 | Metabolic Syndrome X | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0524620 | Metabolic Syndrome X | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0524620 | Metabolic Syndrome X | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0524620 | Metabolic Syndrome X | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0524620 | Metabolic Syndrome X | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0524620 | Metabolic Syndrome X | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0524620 | Metabolic Syndrome X | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0524620 | Metabolic Syndrome X | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0524620 | Metabolic Syndrome X | CYP4F2 | 8529 | cytochrome P450 family 4 subfamily F member 2 | P78329 |
| C0524524 | Pseudoaphakia | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0524524 | Pseudoaphakia | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0524524 | Pseudoaphakia | GALK1 | 2584 | galactokinase 1 | P51570 |
| C0524524 | Pseudoaphakia | ALDH3A1 | 218 | aldehyde dehydrogenase 3 family member A1 | P30838 |
| C0522631 | Acute myeloid leukemia, minimal differentiation | KLRK1 | 22914 | killer cell lectin like receptor K1 | P26718 |
| C0522631 | Acute myeloid leukemia, minimal differentiation | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0522274 | Humoral immune defect | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0522274 | Humoral immune defect | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0521694 | Atrophic retina | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0521694 | Atrophic retina | FKTN | 2218 | fukutin | O75072 |
